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  7. Leucine-rich repeat serine/threonine-protein kinase 2

Tchem Leucine-rich repeat serine/threonine-protein kinase 2

Positively regulates autophagy through a calcium-dependent activation of the CaMKK/AMPK signaling pathway. The process involves activation of nicotinic acid adenine dinucleotide phosphate (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes. Together with RAB29, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner. Regulates neuronal process morphology in the intact central nervous system (CNS). Plays a role in synaptic vesicle trafficking. Phosphorylates PRDX3. Has GTPase activity. May play a role in the phosphorylation of proteins central to Parkinson disease.

This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]

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Property Summary

NCBI Gene PubMed Count 699
PubMed Score 1111.18
PubTator Score 1294.44

Knowledge Summary

Patent (36,126)

TINX Plot

  Disease (8)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Parkinson's disease 364 7.863 3.9
Crohn's disease 304 3.006 1.5
Disease Target Count Z-score Confidence
Neurodegenerative disease 383 0.0 4.0
Disease Target Count
Parkinson disease 8 1

Expression

  Differential Expression (18)

Disease log2 FC p
osteosarcoma -3.506 5.0e-04
medulloblastoma -2.500 3.3e-05
atypical teratoid / rhabdoid tumor -2.200 3.6e-05
medulloblastoma, large-cell -3.200 6.1e-05
acute quadriplegic myopathy 2.021 1.1e-04
tuberculosis 3.200 2.0e-07
non-small cell lung cancer -4.006 1.1e-25
intraductal papillary-mucinous adenoma (... -1.800 6.9e-04
intraductal papillary-mucinous carcinoma... -1.700 6.2e-03
diabetes mellitus -1.200 4.6e-03
lung adenocarcinoma -2.100 9.4e-11
pilocytic astrocytoma 1.800 2.1e-04
lung carcinoma -5.300 2.2e-42
Pick disease -1.300 1.2e-03
mucosa-associated lymphoid tissue lympho... 2.146 6.4e-03
invasive ductal carcinoma -1.100 7.6e-03
ulcerative colitis 1.700 5.3e-04
ovarian cancer -1.600 3.8e-07

Synonym

Accession Q5S007 A6NJU2 Q6ZS50 Q8NCX9
Symbols PARK8
RIPK7
ROCO2
AURA17
DARDARIN

Gene

LRRK2

PANTHER Protein Class (4)

PDB

2ZEJ   3D6T  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

  TechDev Info (1)

Gary Johnson 302 Kinome profile via MIB/MS Technology

 UniProt Keyword (35)

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 GO Function (25)

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 GO Component (38)

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 GO Process (82)

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 Compartment GO Term (122)

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 OMIM Phenotype (1)

 MGI Phenotype (14)

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 GWAS Trait (4)

 HCA RNA Cell Line (44)

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Pathway (9)

Drug (1)

Structure of sunitinib

sunitinib
pIC50 7.55

Ligand (454)

Structure of CHEMBL3641807

CHEMBL3641807
pKi 7.54

Structure of CHEMBL2170016

CHEMBL2170016
pIC50 7.54

Structure of CHEMBL3122120

CHEMBL3122120
pIC50 7.54

Structure of CHEMBL3651763

CHEMBL3651763
pKi 7.54

Structure of CHEMBL3651802

CHEMBL3651802
pKi 7.54

Structure of CHEMBL2347823

CHEMBL2347823
pIC50 7.55

Structure of CHEMBL2347805

CHEMBL2347805
pIC50 7.55

Structure of CHEMBL3641893

CHEMBL3641893
pKi 7.55

Structure of CHEMBL3797298

CHEMBL3797298
pKi 7.55

Structure of CHEMBL3641836

CHEMBL3641836
pKi 7.55

Structure of CHEMBL2326726

CHEMBL2326726
pIC50 7.55

Structure of CHEMBL3393354

CHEMBL3393354
pIC50 7.55

Structure of CHEMBL3393343

CHEMBL3393343
pIC50 7.55

Structure of CHEMBL3641832

CHEMBL3641832
pKi 7.56

Structure of CHEMBL3651732

CHEMBL3651732
pKi 7.57

Structure of CHEMBL2333126

CHEMBL2333126
pIC50 7.57

Structure of CHEMBL2178127

CHEMBL2178127
pIC50 7.57

Structure of CHEMBL2347811

CHEMBL2347811
pIC50 7.57

Structure of CHEMBL2178137

CHEMBL2178137
pIC50 7.57

Structure of CHEMBL3694809

CHEMBL3694809
pKi 7.57

Gene RIF (760)

PMID Text
27004687 This is the first study indicating that Sp1 signaling plays an important role in the regulation of human LRRK2 gene expression.
26930193 Data show that cyclin-dependent kinase 5 (Cdk5) could phosphorylate the adjacent S1627 in the leucine-rich repeat kinase 2 (LRRK2) R1628P mutant.
26865512 Elevated ratio of phosphorylated LRRK2 to total LRRK2 in urine predicted parkinsonian phenotypes in male LRRK2 carriers.
26844546 The results support a preferential association of LRRK2 variants with excessive pro-inflammatory responses in Leprosy.
26747879 none of the G2019S or R1441G/C/H mutations of LRRK2 were found in any of the 125 screened patients with Idiopathic REM Sleep Behavior disorder.
26651604 Induced pluripotent stem cells - derived sensory neurons with Parkinson's Disease-related LRRK2 G2019S mutation exhibited normal neurite length but had large microtubule-containing neurite aggregations.
26600626 The LRRK2 p.G2019S mutation is not an important causal factor of Parkinson Disease in Colombia having similar frequencies to those reported in other Latin American populations
26536050 Results indicate that non-manifesting carriers of the G2019S mutation in the leucine-rich repeat kinase 2 gene have a specific cognitive profile with executive functions
26519280 Fibroblasts isolated from skin biopsy specimens from patients with genetic forms of Parkinson's disease, carriers of mutations in LRRK2 and PARK2 genes, and from a healthy volunteer were reprogrammed into induced pluripotent stem cells.
26468079 This study demonstrated that The sleep phenotype in leucine-rich repeat kinase 2 mutations parallels that of idiopathic PD, except for absent rapid eye movement sleep behavior disorder here in the presymptomatic and symptomatic stages.
26403521 The assays offer a high-throughput method of monitoring LRRK2 kinase activity.
26384650 Phosphorylation of p53 by LRRK2 induces p21(WAF1/CIP1) expression and apoptosis.
26375402 p21-activated kinase 6 (PAK6) as a novel interactor of leucine-rich repeat kinase 2 (LRRK2), a kinase involved in Parkinson's disease
26366513 This study demostrated that G2019S LRRK2 mutation parkinson disease and REM sleep behavior disorder.
26365310 Lrrk2 phosphorylates and inhibits focal adhesion kinase.
26355680 findings suggest that the alteration of Notch signaling in mature neurons is a component of PD etiology linked to LRRK2
26346174 Cognitive impairments are not correlated with different LRRK2 S1647T polymorphisms in Chinese Parkinson's individuals.
26311745 Parkinson disease LRRK2 risk variant carriers showed greater motor progression compared with noncarrier patients.
26310572 The LRRK2-R1441C Parkinson disease-related mutation results in decreased GTPase activity.
26306001 Most asymptomatic LRRK2 with possible surrogate markers of parkinson's disease such as abnormal dopamine transporter imaging-SPECT
26268663 This study showed the presence of six LRRK2 p.G2019S and nine GBA p.N370S mutation carriers in Parkinson disease.
26268594 LRRK2 facilitates tau phosphorylation indirectly by recruiting tau or cdk5 rather than by directly phosphorylating tau
26234753 LRRK2 A419V variant is a risk factor for Parkinson's disease in Asian population.
26213354 This sttudy showed that the Novel LRRK2 mutations in Parkinsonism.
26177462 Sleep complaints are frequent in LRRK2-Parkinson disease.
26159606 In C. elegans carrying human LRRK2 and alpha-synuclein, expressing alpha-synuclein with G2019S or WT LRRK2 caused age-related synergistic inhibition of autophagy and increase in degeneration of dopaminergic neurons, especially in those expressing G2019S LRRK2.
26123485 Selective expression of Parkinson's disease-related Leucine-rich repeat kinase 2 G2019S missense mutation in midbrain dopaminergic neurons impairs dopamine release and dopaminergic gene expression
26062626 Penetrance of LRRK2 G2019S in Ashkenazi Jews is only 26% and lower than reported in other ethnic groups.
26056228 I2020T mutant LRRK2 iPSC-derived neurons in the Sagamihara family exhibit increased Tau phosphorylation through the AKT/GSK-3beta signaling pathway
26011561 results are consistent with increased iron load in LRRK2- and Parkin-mutation carriers. The increased R2* in asymptomatic PD-mutation carriers suggests that iron deposition occurs early during the preclinical phase of the disease
26009181 we review current knowledge about the link between LRRK2, TPC- and Rab-mediated vesicular trafficking to and from the late endosome related to Parkinson's disease .
25962553 In this meta-analysis, sporadic Parkinson's disease is characterized by a sex effect, with more affected men than women, LRRK2-associated Parkinson's disease lacks a sex effect.
25952961 A rare association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease.
25939886 Calyculin A treatment prevents inhibitor and PD mutant induced dephosphorylation and reverts LRRK2 to a lesser ubiquitinated species, thus directly implicating phosphatase activity in LRRK2 ubiquitination
25926623 The interaction between G2019S LRRK2 and actin-regulatory proteins can be blocked by LRRK2 kinase inhibitors, although we did not find evidence that LRRK2 phosphorylated these interacting proteins
25899316 Comprehensive mutation screening of selected exons of LRRK2 was performed in 486 Serbian Parkinson disease patients showed that G2019S is the most common, pathogenic mutation.
25888648 Recently, using animal models, several attempts have been made to understand if LRRK2 may mediate sensitivity to environmental neurotoxicants.
25842821 In this review LRRK2 influence on protein aggregation, cytoskeletal dynamics, apoptosis rate and inflammatory response is discussed.
25840672 Mutations of the LRRK2 gene in Parkinson's disease patients were associated with less cognitive and neuropsychiatric impairment.
25834052 LRRK2 kinase inhibition decreases HIV-1 Tat-induced phosphorylation of p38 MAPK and JNK in microglia cells
25830304 neither the expression of wild type or mutant LRRK2, nor the inhibition of LRRK2 kinase activity affect neurite complexity and cellular adhesion
25821816 These data suggest that most of the variants despite being located in different domains of LRRK2 appear to exert a potential pathogenic effect possibly through an increased kinase activity, supporting a gain of function mechanism.
25809001 Carriers of the G2019S LRRK2 mutation have subtle non-motor symptoms, possibly early/prodromal features of Parkinson.
25804954 LRRK2 and tau do not interact to exacerbate behavioral, biochemical or pathological abnormalities in neurodegeneration and that LRRK2 and tau exert their pathogenic effects through independent mechanisms.
25786808 Data showed that whole-blood mRNA signatures correlating with LRRK2 genotype and with PD disease state.
25761573 we demonstrated an association between a known PD risk variant, LRRK2 R1628P, with ET. Subjects carrying the R1628P variant had twice the risk of developing ET.
25731749 These observations suggest a potential role for kinase activity in LRRK2-associated Parkinson's disease.
25703537 reviewed current knowledge on the link between LRRK2 and several diseases, including PD, AD, CD, leprosy, and cancer, and discussed the possibility of targeting LRRK2 in such diseases
25650144 This cross-sectional study demonstrates better performance on certain cognitive tests, as well as lower rates of dementia in LRRK2-related Parkinson disease.
25648416 Interactions involving LRRK2, a protein of largely unknown function linked to familial forms of Parkinson's disease. [Review]
25605758 results suggest that LRRK2 kinase activity functions as a Rab5b GTPase activating protein and thus, negatively regulates Rab5b signalling
25521227 Findings confirm that LRRK2 is a susceptible gene to leprosy in Han Chinese population.
25511328 An association analysis of R1628P and G2385R polymorphisms of LRRK2 showed that they are not risk factors for multiple system atrophy in a Chinese Han population.
25500533 Phosphorylation of LRRK2 by casein kinase 1alpha regulates trans-Golgi clustering via differential interaction with ARHGEF7.
25487881 The Parkinson's disease motor phenotype and motor scores were similar in the LRRK2-associated Parkinson's disease
25446991 findings reveal a previously unidentified target of LRRK2 G2019S, showing that Bcl-2 serves as a point of crosstalk between LRRK2 G2019S-mediated mitochondrial disorder and dysregulation of autophagy
25434972 Genetic carriers for LRRK2 were more likely to manifest the postural instability gait difficulty in Parkinson's disease.
25427558 LRRK2 and clathrin-light chains co-localize on endosomes and inhibit Rac1 activity.
25416817 TPC2 is thus a potential drug target within a pathogenic LRRK2 cascade that disrupts Ca(2+)-dependent trafficking in Parkinson disease
25401981 This multinational study from 5 centers demonstrates that LRRK2 G2019S mutation carriers have an overall increased risk of cancer, especially hormone-related cancer and breast cancer in women.
25401511 Lewy body pathology is not present in all patients with LRRK2-related Parkinson disease. The mutation p.G2019S is more frequently associated with LB pathology compared with other LRRK2 mutations.
25394383 novel insights into the multiple mechanisms that dictate the association between LRRK2 and mitophagy in sporadic Parkinson's disease
25378673 Findings provide evidence that LRRK2 exonic variants may contribute to susceptibility to multiple system atrophy
25360523 Rab32 may regulate the physiological functions of LRRK2.
25353650 Data indicate that leucine rich repeat kinase 2 (LRRK2) is genetically linked to Parkinson's disease (PD) and the potent LRRK2 inhibitors PF-06447475 is brain penetrant.
25316291 LRRK2 containing pathogenic Roc-COR domain mutations associates with deacetylated microtubules, and inhibits axonal transport and locomotor deficits.
25301747 Results suggest that LRRK2 alters actin dynamics and F-actin structure both in brain neurons and skin fibroblasts, indicate that LRRK2-dependent changes in the cytoskeleton might have functional consequences on postsynaptic NMDA receptor localization
25243190 Screened the G2385R and R1628P variants of the LRRK2 gene in 1,202 Malaysian subjects consisting of 695 Parkinson's disease cases and 507 controls.
25228699 Data indicate that a unique ATP-binding pocket structure in leucine-rich repeat kinase 2 (LRRK2) allows for potent and specific activity-selective and mutant-selective small molecule inhibitors.
25201882 LRRK2 regulates the anterograde endoplasmic reticulum (ER)-Golgi transport through anchoring Sec16A at the endoplasmic reticulum exit sites (ERES).
25174890 This study demonistrated that LRRK2 mutation(R1441C) cause the abnormalitie of nuclear of midbrain dopaminergic neurons.
25127457 This study demonistrated that significant differences were not detected between R1441G-PD and i-PD in cognitive, depression and anxiety scales.
25107341 This study provided that G2019S LRRK2 confers a hyperkinetic phenotype.
25080504 Regulation of Rab7 activity by mutant LRRK2 in Parkinson's disease impairs membrane trafficking at very late stages of the endocytic pathway.
25062988 Study suggests that non-motor symptoms are quite common in Chinese Parkinson's disease population and that there are no differences in the non-motor symptom phenotype between patients with and without LRRK2 G2385R and R1628P variants
25048644 This stuidy do not support an association between LRRK2-G2019S mutation and an increased cancer risk.
25027012 Results suggest that the LRRK2 G2385R variants contribute to the susceptibility of Parkinson's disease (PD) especially in Chinese PD. Meanwhile, it is possible that age is not the risk factor to facilitate G2385R gene mutation.
25017139 Fibroblasts from Parkinson's disease patients with the G2019S LRRK2 mutation display a higher sensitivity to MPP+ induced autophagy.
25008396 Disease penetrance affects populations of LRRK2 parkinsonism in Tunisia and Norway.
25000966 Neuroimaging using dopaminergic PET did not recapitulate prior studies in human LRRK2 mutation carriers. LRRK2 p.G2019S rats do not develop overt neurodegeneration; however, they do exhibit behavioral abnormalities.
24997548 Certain LRRK2 variants appear to be generally distributed between p.R1628P and risk of developing PD in the appropriated sample-sized cohort
24973808 is a causative gene of autosomal dominant familial Parkinson's disease (PD).
24957201 A discussion on the diversity of mechanisms of different pathogenic mutations and risk factor variants of LRRK2 (review).
24947832 LRRK2 protein is redistributed from cytoplasm to filamentous aggregates after inhibition, but LRRK1 is not.
24942733 Arsenite stress stimulates LRRK2 self-association and association with protein phosphatase 1alpha, decreases kinase activity and GTP binding in vitro, and induces translocation of LRRK2 to centrosomes
24916379 These data establish that LRRK2 can protect neurons from apoptotic insult through a survival pathway in which LRRK2 signals to activate Akt, and then inhibits FOXO1.
24903616 The LRRK2*G2019S mutation status has no discernible effect on the rate of motor disease progression in Ashkenazi-Jewish Parkinson's disease patients.
24863511 No mutations were found in both patients and controls which can be attributed to the relatively small sample size and selection bias.
24849765 The present high-resolution melting assay is a reliable and rapid method for genotyping R1628P and G2385R loci in LRRK2 gene.
24836358 Basal phosphorylation status varied among Ser910, 935 and 955 mutants. T2035A kinase-inactive mutant underwent basal phosphorylation in a similar manner to WT LRRK2.
24830390 This study provides the evidence that mutant (G2019S) LRRK2 causes early-phase dysfunctions of SNpc dopaminergic neurons and impairment of corticostriatal LTD in the (G2019S) LRRK2 transgenic mouse.
24816003 Parkinson's disease patients with LRRK2 mutations are more likely to be women, suggesting a stronger genetic load compared to idiopathic Parkinson's disease
24794857 This work shows that LRRK2 activity is regulated by RGS2.
24788225 LRRK2 controls monocyte attachment to endothelial cells. LRRK2 overexpression induces VCAM-1 expression and NF-kappa b transcriptional activity.
24777780 Findings suggest that the interaction LRRK2-SNCA regulating their expression as the molecular basis underlying the observed Lewy Body associations.
24758914 a significant association between SNP rs66737902 in LRRK2 and the risk of developing Parkinson disease
24754922 Yeast-two-hybrid screening using human LRRK2 kinase domain as bait identified microtubule associated protein 1B (MAP1B) as a LRRK2 interactor.
24729340 changes Gly2019Ser and Gly2385Arg of LRRK2 are a rare cause of Parkinson's disease in Mexican-mestizo population
24725412 Study shows that ribosomal protein s15 is a key pathogenic LRRK2 substrate in Drosophila and human neuron Parkinson's disease models.
24695735 The Parkinson disease-linked LRRK2 protein mutation I2020T stabilizes an active state conformation leading to increased kinase activity.
24687852 These data demonstrate a critical role of the WD40 domain within LRRK2 function.
24652679 Results indicate that mutant LRRK2 does not affect PGRN mRNA expression or intracellular PGRN protein levels/PGRN degradation in cell culture
24633735 LRRK2-G2019S expression derived from human BAC constructs causes LRRK2 to be expressed in additional brain neuron subtypes in the rat such as striatal cholinergic interneurons and the substantia nigra pars compacta
24631561 the LRRK2 variants are unlikely to be actively involved in schizophrenia in Han Chinese.
24591621 The R1441H mutation causes a twofold reduction in GTPase activity without affecting the structure, thermal stability, and GDP-binding affinity of its GTPase domain, Roc.
24576675 Both the loss of capacity of LRRK2 pathogenic mutants to protect against oxidative stress and their enhancement of dysfunction may be important for the development of PD during the aging process.
24559644 Its variant alone was associated with an increased risk for PD.
24482120 G2019S carriers do not manifest changes in gray matter volume or diffusivity parameters in Parkinson's disease-related structures prior to the appearance of motor symptoms.
24470158 This manuscript provides a detailed assessment of the possible functions of each of the six putative domains of LRRK2, and how their structure and function may be affected by Parkinsonism-associated variations.
24403142 LRRK2 levels are more important than kinase activity per se in predicting toxicity and implicate synuclein as a major mediator of LRRK2-induced neurodegeneration.
24398085 Methylation of LRRK2 DNA is a useful diagnostic biomarker in Parkinson's disease patients.
24375786 This study provide evidence that the novel A1442P mutant and the previously investigated R1441C pathogenic mutant exhibit increased intracellular degradation, a property reportedly demonstrated for the pathogenic LRRK2 kinase domain mutant I2020T.
24360742 It appears to be critically involved in inflammatory pathway.
24357540 THis study did not detect an overall lower rate of cancers in patients with PD in comparison with cancer registry data or in LRRK2 mutation carriers in comparison with iPD patients
24351927 LRRK2 kinase activity is modulated by PKA-mediated binding of 14-3-3 to S1444; 14-3-3 interaction with LRRK2 is hampered in R1441C/G/H-mediated Parkinson Disease pathogenesis
24339985 two new missense mutations (R767H and S885N) regarding LRRK2 in PD patients were identified.
24326068 The selective fluorescent NAADP analog, Ned-19, stained the same subcellular regions as LysoTracker, suggesting that these stores are the targets of NAADP action.
24275654 Data indicate that leucine-rich repeat kinase 2 (LRRK2) selectively interacts with three beta-tubulin isoforms: TUBB, TUBB4, and TUBB6.
24262189 Based on current literature, genetic testing of LRRK2 (particularly for G2019S) certainly has a clinical role, though it is applicable primarily in select scenarios and in certain at-risk populations.
24251413 The significant increase in the expression of uncoupling protein 2 (UCP2) was only detected in affected individuals with the G2019S mutation in LRRK2.
24243757 Parrkin disease in Ashkenazi Jews LRRK2 G2019S mutation carriers is similar to idiopathic PD but is characterized by more frequent lower extremity involvement at onset and PIGD without the associated cognitive impairment.
24211199 These data highlight the autophagy and lysosomal pathways as read outs for pathogenic LRRK2 function and as a marker for disease, and provide insight into the mechanisms linking LRRK2 function and mutations
24167564 LRRK2 affects the levels of dopamine receptor D1 on the membrane surface in neuronal cells
24148854 Results link LRRK2 mutations to mtDNA damage and validate a new cellular phenotype that can be used for examining pathogenic mechanisms.
24123150 Among patients with Parkinson disease, the G2019S mutation in the LRRK2 gene is apparently associated with increased gait variability, an increased fall risk, and the postural instability sub-type.
24095219 Mutations in the LRRK2 gene are the most frequent genetic cause associated with autosomal dominant Parkinson disease.
24080176 study found no association between the LRRK2 gene and Alzheimer's disease (AD), suggesting that LRRK2 gene variants may not affect the development of AD in Han Chinese individuals
24046064 This study found that the G2385R variant was significantly associated with motor complications and that this variant was an independent risk factor for motor fluctuation in females.
24040382 analysis of linkage disequilibrium of LRRK2 across different races
24018986 The findings of this study suggested that 22q11.2 deletions represent a novel genetic risk factor for early-onset PD with variable neuropathological presentation reminiscent of LRRK2-associated PD neuropathology
24015287 LRRK2 and RIPK2 variants in the NOD 2-mediated signaling pathway are associated with susceptibility to Mycobacterium leprae in Indian populations.
24014121 The results of this study supported the idea that genetic risk factors in LRRK2 for Parkinson disease are ethnicity-specific.
23967090 this study provides novel insights into LRRK2 expression, splicing and regulation with a potential link to the etiology of CD.
23963289 This study identified three novel LRRK2 mutations and reported a higher frequency in Calabria in Italy.
23938341 The mutations in LRRK2 can cause Parkinson's disease.
23937295 Results show sporadic Parkinson's Disease cases seem to have marked olfactory impairment already at the time of diagnosis, hyposmia is not as prominent in LRRK2 PD as in sporadic cases, and healthy LRRK2 mutation carriers have preserved sense of smell
23937259 identified PP1 (protein phosphatase 1) as a key LRRK2 phosphatase in physiological and pathological conditions.
23932063 In Israeli Jews with Parkinson's disease, outcome of subthalamic stimulation was not influenced by LRRK2 G2019S mutation.
23924436 study characterized the autophosphorylation of LRRK2 and identified Thr1348, Thr1349 and Thr1357 as the major autophosphorylation sites; results highlight the differential effects of familial mutations in LRRK2 on its conformation and enzymatic properties
23916833 The resulting data demonstrate that inhibition of LRRK2 kinase activity stimulates macroautophagy.
23913756 study details the allele frequencies for the novel Parkinson disease risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K-R1398H-K1423K)
23895867 LRRK2 genetic screening should be taken into account in atypical Parkinson disease cases
23886663 these results define a pathway for LRRK2 extracellular release, clarify one function of the LRRK2 14-3-3 interaction and provide a foundation for utilization of LRRK2 as a biomarker in clinical trials.
23842774 The most common mutations in an AD gene involved in FP is the LRRK2 gene whereas mutations in several other genes including the Parkin gene causes an autosomal recessive inherited form of PD
23824357 Our study suggests that LRRK2 G2019S does not predispose to breast cancer in a western European population
23820587 This study confirmed the associations of LRRK2 with parkinson disease susceptibility and fail to show significant associations of alzheimer disease genome-wide association study (GWAS) top hits with PD susceptibility in a Korean population.
23771111 A419V is not an important LRRK2 risk variant in our Asian cohort of patients with PD. Our data are further supported by a literature review which showed that 4 out of 6 published studies reported a negative association of this variant in PD.
23764467 Carriers of the LRRK2 mutation had less autonomic impairment than those with idiopathic Parkinson's disease
23726462 This comprehensive study confirms that p.Gly2019Ser mutation of LRRK2 is the most important genetic cause of Parkinson's disease known so far in
23664753 Its mutation is the most common cause of genetic-related parkinsonism. (review)
23628791 LRRK2 down-regulation potentiates manganese toxicity in both control and DAT-transfected cell as well as potentiates dopamine toxicity.
23624603 This study provides the first evidence that G2385R polymorphism of LRRK2 gene is a risk factor for sporadic Parkinson's disease in Han-Chinese population of south-eastern China.
23588498 No pathogenic LRRK2 mutations are found in Chamorro participants on Guam who have amyotrophic lateral sclerosis and parkinsonism-dementia complex.
23531835 Several mutations in LRRK2 and PARK2 were identified in a cohort of 216 unrelated Slovak patients
23507417 This results are consistent with a recently published study that also did not find significant interactions of either smoking or caffeine intake with SNPs in SNCA, MAPT, or LRRK2 genes
23472874 study found LRRK2 G2019S induced dysregulation of CPNE8, MAP7, UHRF2, ANXA1, and CADPS2; LRRK2 G2019S induced increased extracellular-signal-regulated kinase 1/2 phosphorylation; results reveal molecular details for the pathogenesis of mutant LRRK2 and possible new targets for the development of new therapeutics for patients with Parkinson's disease
23455607 LRRK2 has a self-perpetuating inhibitory effect on chaperone-mediated autophagy which could underlie toxicity in Parkinson's disease.
23421816 The R1628P variant within LRRK2 plays a protective role in a Han Chinese population with Alzheimer's disease.
23389884 he observed p.S1761R carrier frequency in Parkinson disease patients of Spanish ancestry is less than 1 per 1,000
23379419 Because the G2019S mutation lies in the DXG motif (DYG in LRRK2 but DFG in most other kinases) of the activation loop, we explored the structural consequence of the mutation on loop dynamics using an enhanced sampling method called metadynamics.
23357204 Non-manifesting G2019S mutation of LRRK2 carriers and non-carriers performed similarly on the task and on all other assessed measures
23325906 Thr results of this study indicated that altered premotor biomarker in LRRK2 G2019S-associated PD was SN hyperechogenicity, whereas abnormal DaT-SPECT predominated in older, unaffected mutation carriers.
23318930 These findings suggest that LRRK2 and microtubules mutually interact both in non-neuronal cells and in neurons
23300640 a significant decrease in plasma total alpha-synuclein levels in idiopathic PD
23268655 Our data support the concept that the LRRK2 G2385R mutation may be involved in the pathogenesis of autosomal-dominant Parkinson's disease in a Chinese family.
23250886 This study demonistrated that asymptomatic LRRK2-G2019S mutation carriers have a functional impairment in the striatum.
23241745 These data suggest that Ser(1292) autophosphorylation may be a useful indicator of LRRK2 kinase activity in vivo and may contribute to the cellular effects of certain Parkinson's disease mutations.
23241358 GTPase activity regulates kinase activity of LRRK2.
23227859 The proband, with restless legs syndrome, and her sister were analyzed for mutations in LRRK2 gene and resulted to carry one heterozygous G2019S mutation in LRRK2 gene. The father, one sister, two cousins and one uncle were affected by Parkinson disease.
23220480 these findings suggest the possibility of a dominant-negative mechanism of neurodegeneration in PD caused by I2020T LRRK2 mutation.
23190742 LRRK2 kinase inhibition decreases HIV-1 Tat-induced phosphorylation of p38 MAPK and JNK in microglia cells
23183827 LRRK2 interactions with alpha-synuclein in Parkinson's disease brains.
23182315 genetic variants of both SNCA and LRRK2 genes are associated with susceptibility to sporadic Parkinson's disease
23125283 Downregulation of miR-205 may contribute to pathogenic elevation of LRRK2 protein in the brains of patients with sporadic Parkinson's disease, while overexpression of miR-205 may suppress the abnormal upregulation of LRRK2 protein in Parkinson's disease.
23115130 common variation within LRRK2 conveys susceptibility for Parkinson's disease in individuals of European ancestry.
23082216 A potential interaction of LRRK2 and 4E-BP1 in mammalian cells and brain, is investigated.
23075850 results identify the nucleus as a previously unknown cellular organelle in Parkinson's disease pathology and may help to open new avenues for Parkinson's disease diagnoses as well as for the potential development of therapeutics targeting this fundamental cell structure
23074843 Data suggest that the mutation LRRK2 G2019S may be a rare cause of Parkinson disease in the Hungarian population.
23055502 The revelance of a mitochondrial-associated pathway was linked to LRRK2 and parkin-related pathogenesis in animal models of Parkinson's disease.
22998870 The results of this study propose a model in which LRRK2 kinase activity is part of an EndoA phosphorylation cycle that facilitates efficient vesicle formation at synapses.
22988882 REVIEW of LRRK2 biology
22988880 The LRRK2 gene are the most common cause of Parkinson's disease and a functional association between LRRK2 and autophagy.
22988879 The knowledge of the link between LRRK2 and autophagic-lysosomal clearance, including regulation of Ca2+-dependent events involving NAADP.
22988878 REVIEW: LRRK2 is highly expressed in tissue and circulating immune cells and is suggestive of a potential role for LRRK2 in innate immunity
22988877 The LRRK2 has been associated with the process of autophagy regulation. Autophagy is an intracellular catabolic mechanism whereby a cell recycles or degrades damaged proteins and cytoplasmic organelles.
22988875 The evidence regarding a potential role of LRRK2 in the regulation of membrane trafficking from vesicle generation to the movement along cytoskeleton and finally to vesicle fusion with cell membrane.
22988874 The given the pathological events occurring at the synapses of PD patients, the presynaptic site may represent a promising target for early diagnostic therapeutic intervention.
22988873 REVIEW: cellular phosphorylation of LRRK2 and the relation to it's function/dysfunction
22988872 The function of LRRK1 and both the physiological and the pathological roles of LRRK2 are only beginning to unfold.
22988870 bioinformatic analyses of the human LRRK2 amino acid sequence to predict the repeat size, number and likely boundaries for the armadillo repeat, ankyrin repeat, the leucine-rich repeat and WD40 repeat regions of LRRK2
22988868 The kinase and GTPase activity of LRRK2 seem to be important in regulating LRRK2-dependent cellular signalling pathways.
22988867 The LRRK2 mutants can promote the redistribution of LRRK2 from diffuse cytosolic staining to more discrete structures, at least at high expression levels achieved in transfection experiments.
22988866 The GTPase function is therefore a pivotal functionality within the LRRK2-mediated signalling cascade which includes partners encoded by other LRRK2 domains as well as other cellular signalling partners.
22988865 The common G2019S mutation increases kinase activity in vitro suggests that altered phosphorylation of LRRK2 targets may have pathological outcomes.
22988863 results implicate compartment-specific synaptic dysfunction caused by altered protein synthesis, cytoskeletal dynamics and mitochondrial transport in LRRK2 pathogenesis and offer a new paradigm for understanding and ultimately treating LRRK2-related Parkinson's disease
22988862 The pathogenic mutations in LRRK2 impair the nigrostriatal dopaminergic pathway, and LRRK2 plays an essential role in the dynamic regulation of autophagy function in vivo.
22988861 The LRRK2 (leucine-rich repeat kinase 2) is a gene of unknown function that has been linked to a number a human diseases, including PD (Parkinson's disease), IBD (inflammatory bowel disease), leprosy and cancer.
22981185 we provide further evidence that confirms LRRK2 G2385R and LRRK2 R1628P to be the common genetic risk factors for PD in a Han Chinese population from Southern China.
22956510 This systematic review included information from >5800 unique cases.The weighted mean proportion of cases with PARK2 (parkin), PINK1, and PARK7 (DJ-1) mutations was 8.6%, 3.7%, and 0.4%, respectively. PINK1 mutations were more common in Asian subjects.
22952710 several compounds such as IKK16, CHK1 inhibitors and GW441756 can inhibit LRRK2 Ser935 phosphorylation in cells and LRRK2 kinase activity in vitro
22952686 purified and active LRRK1 and LRRK2 can form dimers in their full-length conformation
22914834 Carrying the LRRK2 G2019S mutation was associated with lower executive performance in a population at risk for parkinson disease.
22914360 the presence of the G2019S LRRK2 mutation, one of the most prevalent in LRRK2, is accompanied by a deregulation of autophagy basal levels dependent on the MAPK1/3 (ERK2/1) pathway.
22842796 The A allele of the LRRK2 gene G2385R polymorphism is correlated with an increased risk of PD, particularly at an age of >/=50 years.
22807999 LRRK2 A419V variant is not a major risk factor for Parkinson's disease in different Chinese populations.
22773119 The G2019S mutation in LRRK2 induces autophagy via MEK/ERK pathway.
22736029 LRRK2 missense mutation(G2019S) causes uncoupling protein-mediated mitochondrial depolarization.
22703868 The LRRK2 G2019S mutation status has no discernable effect on the prevalence of levodopa-induced dyskinesias or on levodopa-induced dyskinesias latency in Israeli levodopa-treated Parkinson disease patients.
22689969 data give important insight in the LRRK2 activation mechanism and, most importantly, explain the G2019S-related increase in LRRK2 kinase activity
22684232 LRRK2 has minimal role as a candidate and susceptibility gene in Parkinson's disease pathogenesis among East Indians.
22669510 Our results support the notion that SNCA variants can modify the pathogenic effect of LRRK2 mutations as described previously for Parkinson disease.
22658533 In a Chinese cohort of Parkinson's disease (PD) patients, multiple PD-associated genetic factors modify both penetrance and patients' ages at onset of Asian-specific LRRK2 parkinsonism.
22652643 results suggest a previously undefined signaling mechanism underlying the neurotoxic effect of LRRK2 (G2019S), in which LRRK2 (G2019S) triggers oxidative stress in cells
22639965 The results of this study provided insights into the pathobiology of LRRK2 and suggest that LRRK2 G2019S may induce neuronal dysfunction or cell death by disturbing normal mitochondrial fission/fusion dynamics and function.
22612223 C-terminus of LRRK2 plays an important role in maintaining enzymatic function of the protein and G2385R mutation may be associated with Parkinson's disease in a way that is different from kinase-activating mutations
22607035 Scientific evaluation of a patent aiming for the development of pyrazolopyridine derivatives as LRRK2 kinase inhibitors, a potential therapeutic target for combating Parkinson's disease.
22594666 [review] The detrimental effects caused by Parkinson's disease LRRK2 mutations may initiate in the periphery and extend to the central nervous system as a consequence of increased levels of pro-inflammatory factors permeable to the blood brain barrier.
22575234 Meta-analysis found genetic associations between four LRRKS variants (G2019S, G2385R, R1628P and A419V) and increased Parkinson isease (PD) risk; there was no evidence of statistically significant association between P755L and PD.
22575062 This study demonstrated an association of the G2385R allele with risk for PD in a northern Han Chinese population.
22567899 Increased spontaneous apoptosis of peripheral blood lymphocytes is strongly associated with LRRK2 mutations in Parkinson's disease patients.
22534020 Human I2020T LRRK2 transgenic mouse exhibited impaired locomotive ability accompanied by several dopaminergic neuron abnormalities.
22528366 Overexpression of LRRK2 resulted in the altered splicing of two genes associated with Parkinson's disease, with an increased inclusion of exon 10 of microtubule-associated protein tau
22525366 LRRK2 I2020T mutation, a pathogenic mutation associated with PARK8, and found abnormal tau phosphorylation depositions in the brainstem.
22503729 Our result indicated that SCNA, LRRK2, UCHL1, HtrA2 and GIGYF2 genes' mutations might not be a main reason for Chinese Autosomal dorminant Parkinson's disease
22488887 study reports the identification of a pair of identical twins with the G2109S mutation who are discordant for Parkinson's disease by more than 10 years
22486164 Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most prevalent genetic cause of both familial (PARK8 type with autosomal dominant inheritance) and sporadic parkinson disease.
22445250 The LRRK2 p.Gly2019Ser mutation was not detected in Zambian patients with Parkinson's disease.and A novel LRRK2 missense variant (p.Ala1464Gly) of possible pathogenic role was found in one case.
22441981 In this review we discuss recent advances and unanswered questions in understanding the pathophysiology of LRRK2.
22436655 In a South Indian population, none of the samples (26 familial Parkinson Disease, 114 sporadic PD) were found to be positive for LRRK2 mutations.
22433811 Comparative analyses of the age-at-onset and main neurological symptoms in 13 patients with LRRK2-associated PD (8 with G2019S, 2 - V1613A and 1 - R1441C) and 80 PD patients without mutations in the LRRK2 gene did not reveal any differences.
22423108 The basic pathobiology of LRRK2 indicates an important role for the GTPase domain and GTPase activating protein ArfGAP1 in LRRK2-mediated toxicity.
22418733 We showed a significant association of LRRK2 A419V variant among early onset PD in the ethnic Han Chinese population but not among late onset PD
22415848 Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.
22393539 There is a role for LRRK2 function in vesicle trafficking and microtubule dynamic.Mutations in LRRK2 contribute to both familial and sporadic Parkinson's disease.
22357653 endogenous or human LRRK2 and A53T alpha-synuclein do not interact together to influence the number of nigrostriatal dopaminergic neurons.
22342962 enhanced neuroinflammation may contribute to neurodegeneration in Parkinson's disease patients carrying LRRK2 mutations
22323743 Ashkenazi Jewish patients with PD who harbor the G2019S LRRK2 mutation are more likely to have a concomitant non-skin cancer than noncarriers
22315971 These results suggest that changes in LRRK2 expression or activity lead to corresponding changes in mitochondrial function, autophagy, and protein translation.
22303461 LRRK2 plays an important role as a physiological regulator for phosphorylation-mediated dissociation of tau from microtubules.
22302802 LRRK2 regulates responses in immune cells of the brain and further implicates microglial involvement in late-onset Parkinson's disease.
22253261 LRRK2's role as a signaling hub in the cell could lead to diverse pathologies
22251894 The Parkinson's disease-causing mutations are likely to affect putative leucine-rich repeats in LRRK2 inter- and intramolecular interactions.
22243833 This study identified modest associations with common variants in SNCA and LRRK2 and a trend suggestive of an overrepresentation of rare variants in cases compared to controls for several genes.
22228096 LRRK2 regulates mitochondrial dynamics in neurons by increasing mitochondrial DLP1 through its direct interaction with DLP1, and LRRK2 kinase activity plays a critical role in this process.
22204929 The data of this study supported a role for LRRK2 in autophagy, raise the possibility that deficits in autophagy contribute to the pathophysiology of LRRK2.
22166428 This review summarizes Parkinson's disease (PD)-related pathologies and abnormal motor functions, providing valuable insight into the potential LRRK2-mediated pathogenesis of PD.
22162019 This report describing an Asian Parkinson's disease family with the p.Tyr1699Cys mutation in LRRK2.
22080837 observations identify a novel effect of LRRK2 PD mutations and highlight a potential role for microtubules in the pathogenesis of LRRK2-related neurodegeneration
22077787 Through unclear mechanisms, LRRK2 kinase regulates cytoskeleton architecture through control of protein translation, phosphorylation of cytoskeletal proteins, and response to cellular stressors.
22056842 Cognitive functions were similarly affected in Parkinson's disease patients with and without LRRK2 G2019S mutation
22047502 The monomer form of LRRK2 is predominant within cells, and that dimerization is dispensable for its enzymatic activity.
22038903 This study demonistrated that indicated that mutations interfering with LRRK2 ROC-COR domain dimerization lead to typical Parkinson's disease.
22004453 phosphorylation of serines 955 and 973; phosphorylation of Ser955 and 973 is disrupted in context of Parkinson's disease associated mutations; conclude mechanisms of regulation of Ser910/935/955/973 phosphorylation are similar and physiologically relevant
21989859 Transcranial sonography shows hyperechogenicity of the substantia nigra in both patients' cohorts as well as in asymptomatic LRRK2 mutation carriers.
21972245 Ribosomal and glycolytic biological functions were significantly up-regulated in LRRK2 G2019S transgenic mice compared with LRRK2 knockout mice.
21961647 The increased kinase activity of the G2019S mutant is substrate-dependent.
21954089 LRRK2 Gly2019Ser mutation among Parkinson's disease patients in Cantabria (Spain) is high-frequency and reduced-penetrance.
21924942 LRRK2 variants are an independent genetic risk factor for typical Parkinson disease, but BDNF variants can greatly increase LRRK2-induced risk for patients with an onset age of older than 60 indicating an additive effect between the 2 genes.
21922152 LRRK2 down-regulation was associated with a clearly decreased 4E-BP1 protein in a breast cancer cell line
21898123 Possible interactions between genetic factors in the microtubule-associated protein tau (MAPT) region and the LRRK2 gene influence the clinical course of Parkinson disease patients.
21885347 The results for LRRK2 show that several rare and common genetic variants in the same gene can have independent effects on disease risk. LRRK2, and the pathway in which it functions, is important in the cause and pathogenesis of Parkinson's disease.
21858031 Data show that while kinase activity of LRRK2 requires an intact ROC-GTPase domain, it is independent of GDP or GTP binding to ROC.
21857923 Findings establish a critical functional link between LRRK2 and ER stress.
21850687 Mutations in LRRK2 increases PRDX3 phosphorylation resulting in oxidative stress induced neuronal cell death in Parkinson disease.
21842440 This study suggested that pathogenic LRRK2 mutation in any of our sporadic and apparently familial Ghanaian Parkinson's disease patients.
21816655 This study provides no statistically significant evidence of gene-gene interaction effects for SNCA, MAPT and LRRK2 genes for Parkinson's disease
21806997 Autophosphorylation in the leucine-rich repeat kinase 2 (LRRK2) GTPase domain modifies kinase and GTP-binding activities.
21799870 LRRK2 is unlikely to play a direct role in modulation of gene expression
21796139 These observations support the possibility that p.G2385R is associated with an increased risk of PD (Parkinson's disease).
21753163 Although tremor is a more common presenting feature of LRRK2-PD than iPD and some nonmotor features differed in degree, the phenotype is largely overlapping.
21753159 Olfaction is impaired in LRRK2 G2019S-mutation related PD, although less overall than other PD.
21749573 Further functional studies are required to elucidate the potential therapeutic implications involving the dimerization of Dapk1 and Lrrk2 proteins as risk factors for Parkinson's disease.
21738687 Results provide further evidence for the emerging role of LRRK2 in immune cells and regulation at the transcriptional and translational level.
21720016 results suggest that overexpression of LRRK2, especially G2019S mutant, whose functions remain unclear, initiate the aggregate formation, release and transmission of alpha-synuclein
21714003 From the results of this study suggested that the lifelong penetrance of LRRK2-G2019S mutation usually does not exceed 25% to 35%, unless family history suggests otherwise.
21699405 The G2019S mutation in the LRRK2 gene is quite common in Egyptian patients with sporadic Parkinsons disease, and is associated with a higher degree of motor effect but does not seem to affect mentation or behavioral aspects of the disease.
21698001 Transgenic rats recapitulated the initiation process of dopaminergic dysfunction caused by pathogenic mutation in LRRK2.
21696411 Our data suggest that widespread dysregulation of LRRK2 mRNA expression may contribute to the pathogenesis of IPD.
21679126 Mutations in the gene encoding leucine-rich repeat kinase 2 (LRRK2) play a major role in the development of Parkinson's disease.
21676337 discusion of recent progress in understanding how LRRK2 mutations lead to Parkinson disease and how this might have therapeutic implications [review]
21661047 This studty identified two novel mutation related to Parkinson's disease.
21658387 Data show that LRRK2 directly phosphorylates Akt1, a central molecule involved in signal transduction for cell survival and prevention of apoptosis.
21641848 Healthy LRRK2 mutation carriers presented subclinical parkinsonian motor and non-motor signs in the apparent absence of olfactory loss
21641266 Families of patients with LRRK2 mutations and susceptibility alleles need to be informed about the current lack of disease preventative strategies and the implications surrounding incomplete penetrance [review]
21632271 The frequency of Lrrk2 p.Q1111H varies greatly in Latin American populations and suggests that this variant may have originated in an Amerindian population.
21611983 The results of the present study suggest a potential predictive value of olfactory and MIBG data in a clinical context. Both R1441G and G2019S mutations produced similar results in this study.
21611978 The results of this study suggested that possible association between premorbid mood disorders and leucine-rich repeat kinase Parkinson's disease, warranting further evaluation.
21552986 The resullts of this study speculated that the role of Lrrk2 in immune cells may also be relevant to the susceptibility of developing PD or its progression.
21538529 G2019S is not ubiquitously the most common leucine-rich repeat kinase 2 mutation; in Campania R1441C is more frequent.
21494637 Expression of G2019S mutant LRRK2 induces the degeneration of nigrostriatal pathway dopaminergic neurons in an age-dependent manner.
21483109 LRRK2 G2019S mutation does not contribute to Parkinson's disease in South India. Our findings support the current view that G2019S-associated PD may be population-specific.
21454543 pathological mutations in LRRK2 attenuates activation of Rac1, causing disassembly of actin filaments, leading to neurite retraction.
21449009 The frequency of mutations was greater in Puerto Ricans than in non-Puerto Ricans (25.0% vs 1.0%, Fischer's exact test, P = .01). Mean age at onset and sex did not differ between groups
21406209 LRRK2 Pro755Leu variant rarely increased risk for PD in ethnic Chinese population in Asia.
21370995 LRRK2 can interact directly with uMtCK to block its entry into mitochondria and its subsequent processing.
21362567 Dopaminergic neurons derived from G2019S-induced pluripotent stem cells showed increased expression of key oxidative stress-response genes and alpha-synuclein protein.
21353620 The study concluded that the lrrk2 p.Gly2019Ser mutation is a rare cause of disease in this Danish cohort of patients with neurodegenerative disorders.
21312285 The results suggested that the TCS findings of patients with the common G2019S mutation in the LRRK2 gene are not substantially different from idiopathic parkinson disease.
21307259 The LRRK2 modulates synaptic vesicle trafficking and distribution in neurons and in consequence participates in regulating the dynamics between vesicle pools inside the presynaptic bouton
21280089 association between the LRRK2-G2019S mutation carriers and gait; during dual-tasking and fast-walking, gait variability and the amplitude of the dominant peak of the accelerometer signal were significantly altered among the carriers
21238487 Autosomal dominant missense mutations in the gene for leucine-rich repeat kinase 2 (LRRK2/PARK8) are the most common known cause of Parkinson's disease.
21234781 absence of G2019S, I2012T, and I2020T in 624 ethnic Chinese Parkinson's disease patients from Taiwan
21221623 MIBG cardiac uptake in parkinsonian patients with LRRK2 mutations is abnormal but less impaired than in idiopathic Parkinson's disease , a finding that might be attributed to neuropathological heterogeneity among LRRK2 patients.
21220347 Data indicate that MET and LRRK2 cooperate to promote efficient tumor cell growth and survival in these cancers.
21168496 Mutant human LRRK2 is highly expressed in the hippocampus in the dorsal root ganglia and subventricular zone of adult transgenic mice.
21167764 Leucine-rich repeat kinase 2 (LRRK2 S1647T) genetic variant is associated with increased risk of Parkinson's disease in a Taiwanese population.
21159540 our study demonstrates the association of LRRK2 R1398H with decreased risk of Parkinson's disease in a Han Chinese population.
21115957 Our results provide evidence for impaired mitochondrial function and morphology in LRRK2(G2019S) mutant patient tissue.
21088684 The leucine-rich repeat kinase 2 (LRRK2)mutation is related to Parkinson's disease.
21073465 LRRK2 Tyr1699Cys kinase domain strengthens intra-molecular catalytic core interactions which alter the inter-molecular dimerization ultimately leading to altered GTPase activity.
21072187 Observational study of gene-disease association. (HuGE Navigator)
21060682 Together the identification of LRRK2's phosphorylation consensus motif, and the functional consequences of its phosphorylation, provide insights into downstream LRRK2-signaling pathways
21048939 Downstream effects of phosphorylation of ARHGEF7 through LRRK2 could be (i) a feedback control mechanism for LRRK2 activity as well as (ii) an impact of LRRK2 on actin cytoskeleton regulation
20969957 This review discusses recent advances in understanding the impact of mutations in LRRK2, which have yielded insights into synaptic dysfunction as a possible early pathogenic mechanism in Parkinson's disease.
20949042 detected four arrayed Ste20 serine/threonine kinase family members (TAOK3, STK3, STK24, STK25) as novel LRRK2 substrates and LRRK2 interacting proteins, respectively
20939082 dopamine turnover was found to be elevated in asymptomatic LRRK2 mutation carriers at increased risk of Parkinson Disease.
20933457 behavioral abnormalities, mostly depression and hallucinations, were more frequent in the LRRK2 G2019S carriers
20933457 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20921534 These observations indicate that LRRK2 is an IFN-gamma target gene, and it might be involved in signaling pathways relevant to Crohn's disease pathogenesis.
20881132 Expression of LRRK2 transgenes increases the recruitment of autoactivated Shaggy protein, thus inducing hyperphosphorylation and mislocalization of tau with resultant dendrite degeneration.
20850369 The phenotype and assay described provides a means to develop therapeutic agents that modulate the toxic gain-of-function conferred by mutant Lrrk2
20818658 Odor identification is diminished in LRRK2 parkinsonism but not to the same extent as in idiopathic Parkinson disease.
20818658 Observational study of gene-disease association. (HuGE Navigator)
20818610 our findings indicate an increased risk of nonskin cancers in LRRK2 G2019S mutation carriers, which may be related to toxic gain of function of mutated LRRK2.
20818610 Observational study of gene-disease association. (HuGE Navigator)
20729864 Disease-segregating mutations in LRRK2 lead to neurotoxicity in Parkinson disease, and inhibitors of this enzyme may protect against Parkinson disease.
20727385 LRRK2 mutations Gly2019Ser, Arg1441Gly, and Arg1441His may be rare causes of Parkinson's disease among Mexican-mestizos.
20727385 Observational study of gene-disease association. (HuGE Navigator)
20722494 Mutations R1441G, R1441C, R1441H, G2019S, Y1699C, I2020T, and I2012T were not found in 320 Eastern Indian Parkinson disease patients.
20722494 Observational study of gene-disease association. (HuGE Navigator)
20721916 This study indicated that Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)
20721916 Observational study of gene-disease association. (HuGE Navigator)
20721913 The present study underscores the importance of the LRRK2 gene in the Tunisian parkinson disease population.
20721913 Observational study of gene-disease association. (HuGE Navigator)
20721910 Our data, while limited by a small sample size, show that in LRKK2 G2019S mutation carriers, phenoconversion to PD can occur late in life.
20721910 Observational study of gene-disease association. (HuGE Navigator)
20720502 The localization of LRRK2 protein in the core of a subset of Lewy bodies (LB) demonstrates the contribution of LRRK2 to LB formation and Parkinson disease pathogenesis.
20711177 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20697102 PARK16 single nucleotide polymorphisms (SNPs)are found to be associated with a decreased risk in Parkinson's disease (PD), while PARK1 and PARK8 SNPs are associated with an increased risk of PD.
20697102 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20673920 The present study confirms that the LRRK2 Gly2385Arg variant is a risk factor for sporadic parkinson disease.
20673920 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20671708 LRRK2 interacts with the microRNA (miRNA) pathway to regulate protein synthesis.
20669305 Genetic studies have revealed a novel pathogenic LRRK2 mutation c.4309 A>C (p.Asn1437His) that co-segregates with disease manifestation
20669299 investigated the frequency of common LRRK2 variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients
20669299 Observational study of gene-disease association. (HuGE Navigator)
20659558 We hypothesize that Lrrk2 may impact on tau processing which subsequently leads to increased phosphorylation.
20629711 LRRK2 S1647T increases the risk of Parkinson's disease in southern China
20629711 Observational study of gene-disease association. (HuGE Navigator)
20626563 a new model is proposed for a possible function of LRRK2 and the consequence of the G2019S LRRK2 pathogenic mutation
20595391 Using phospho-specific antibodies, study found that all three putative autophosphorylation sites are phosphorylated in LRRK2, and two are important sites that regulate LRRK2 kinase activity.
20571044 Our results and those of others also suggest that LRRK2 R1628P may have originated in the area of modern Thailand thousands of years ago.
20544233 This reveals that the four South African G2019S-positive probands (three Caucasian and one of mixed ancestry) share a common ancestor with the other haplotype 1-associated Parkinson's disease families reported worldwide.
20515039 multiple events, including altered protein-protein interactions and post-translational modifications, contribute to the regulation of LRRK2 function, through modulation of membrane association and complex assembly
20506312 Studies indicate that molecular genetic analyses have identified five disease genes associated with familial Parkinson disease; SNCA, PARK2, PINK1, PARK7 and LRRK2.
20483373 Observational study of gene-disease association. (HuGE Navigator)
20473834 Data suggest that LRRK2 mutations do not appear to be a common cause of Parkinson's disease in Extremadura, Spain.
20473834 Observational study of gene-disease association. (HuGE Navigator)
20443975 Observational study of gene-disease association. (HuGE Navigator)
20413974 The frequency of LRRK2 G2019S is 30-41% in familial PD and 30-39% in apparently sporadic Parkinson disease in North Africa.
20386743 results provide insight into the basic pathobiology of LRRK2 and suggest that the GTPase domain may contribute to the toxicity of LRRK2.
20382224 Our transgenic LRRK2 C. elegans models recapitulate key features of PD including progressive neurodegeneration, impairment of dopamine-dependent behavior and locomotor function, and reduction in dopamine levels.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20232069 The cerebral cortex in familial PD linked with G2019S LRRK2 is affected in a similar way than that seen in sporadic parkinson disease without cognitive impairment.
20197701 The clinical and pathological data reviewed suggested specific mutations may be associated with alternative PSP-like degeneration phenotypes. different effect on Lrrk2 kinase activity may play a role in such heterogeneity a role in such heterogeneity
20197411 G2019S mutation of LRRK2 arose independently at least twice in humans.
20186690 Data provided the first evidence that multiple LRRK2 variants excert an individual effect and together modulate the risk of PD among Chinese.
20186690 Observational study of gene-disease association. (HuGE Navigator)
20182943 We compared Mini-Mental State Examination performance and self-reported cognitive impairment in early onset Parkinson diseaseparticipants genotyped for mutations in parkin, leucine-rich repeat kinase-2, and glucocerebrosidase
20182943 Observational study of gene-disease association. (HuGE Navigator)
20108944 Systematically mapped LRRK2 phosphorylation sites by mass spectrometry. Our analysis revealed a high degree of constitutive phosphorylation in a narrow serine-rich region preceding the LRR-domain.
20096956 These data show that the G2019S mutation affects the entire body and highlight some of the molecular events observed in the brain
20090955 results suggest that 4E-BP is a relatively poor direct substrate for LRRK2
20074637 LRRK2 was associated to a small but significant induction of SNCA, which was suppressed by treatment with the selective MAPK/ERK kinase inhibitor U0126.
20067578 These data demonstrate that MKKs and LRRK2 function in similar biological pathways, and support a role for LRRK2 in modulating the cellular stress response.
20018961 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20018409 The LRRK2 R1628P variant increases the risk of Alzheimer disease in our population and our in vitro findings suggest that it is a functional variant and predisposes to apoptosis.
20018409 Observational study of gene-disease association. (HuGE Navigator)
20008657 Early-onset Parkinson disease G2019S LRRK2 carriers are more likely to manifest the tremor dominant phenotype.
20008657 Observational study of gene-disease association. (HuGE Navigator)
20004703 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20001906 This work provides biochemical evidence that the ROC domain of LRRK2 functions as a small GTPase, and the Parkinson's disease-associated mutants do not appear to have reduced GTP hydrolysis activities.
19945904 Estimated frequencies of the LRRK2 G2019S mutation in Parkinson's disease in different populations were found to be variable
19915576 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19915575 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19912990 These results suggest that higher susceptibility of I2020T mutant LRRK2 to intracellular degradation than the wild-type molecule may be one of the mechanisms involved in the neurodegeneration associated with this LRRK2 mutation.
19890007 A mutation in LRRK2 causes a gain-of-function effect that promotes the rearrangement of actin cytoskeleton.
19879329 We identified a novel mutation in LRRK2 gene, which was the first mutation of LRRK2 found in the mainland Chinese population with familial Parkinson's disease.
19878656 these results suggest the possibility that in PD and related synucleinopathies, oxidative stress upregulates alpha-syn and Lrrk2 expression, paving the way for pathological interactions.
19854095 This study supports that the LRRK2 G2385R variant may be a genetic risk factor for sporadic Parkinson's disease n the Korean population.
19854095 Observational study of gene-disease association. (HuGE Navigator)
19847307 LRRK2 may have a role in the development of Parkinson's disease
19847307 Observational study of gene-disease association. (HuGE Navigator)
19833102 these results indicate a novel molecular feature characteristic to I(2020)T LRRK2, and provide a new insight into the mechanism of neurodegeneration caused by LRRK2.
19826009 Some PD-associated mutations that increase kinase activity in vitro significantly increase the proportion of dimer structures relative to total LRRK2 protein
19824698 Ser1403, Thr1404, Thr1410, Thr1491 located within the ROC domain, as well as Thr1967 and Thr1969 in the kinase domain, were identified as the autophosphorylation sites of LRRK2.
19822953 LRRK2 p.G2019S mutation is not common among Alzheimer's disease patients.
19822953 Observational study of gene-disease association. (HuGE Navigator)
19804413 LRRK2 in Parkinson's disease [review]
19800393 Four novel sequence variations (IVS49+178A>G, p.R1725Q, p.Q1823K, and p.D2175H) may be associated with PD status, albeit they may be very rare non-disease associated variations.
19770575 These data demonstrate the key role of LRRK2 in regulating autophagy.
19769964 LRRK2 kinase domain increases the generation of ROS and causes enhanced neurotoxicity under H(2)O(2) treatment
19760754 Observational study of gene-disease association. (HuGE Navigator)
19756366 LRRK2 protein distribution coincides with brain areas most affected by Parkinson's disease. The G2019S mutation is believed to be responsible for up-regulation of LRRK2 kinase activity, which may ultimately play a role in neuronal loss (Review)
19741132 Transgenic Drosophila overexpressing LRRK2 variant G2019S, but not the wild-tpe protein, exhibit late-onset loss of dopaminergic neurons accompanied by locomotion deficits.
19735093 This is the first neuropathological study of parkinson disease associated with brain with the R1441G mutation in LRRK2.
19733152 These data suggest that the kinase and GTPase activities of LRRK2 may exhibit complex autoregulatory interdependence.
19726410 Observational study of gene-disease association. (HuGE Navigator)
19714762 Multiple single nucleotide polymorphisms in LRRK2 gene is associated with 12q12 locus with Crohn Disease.
19699188 Our results confirm that the LRRK2 R1628P variant contributes to the pathogenesis of Parkinson's disease in Chinese Han populations.
19699188 Observational study of gene-disease association. (HuGE Navigator)
19692353 Ubiquitous expression of hLRRK2 increased lifespan and fertility of the flies.
19680143 LRRK2 normally localizes to the endosomal-lysosomal compartment within morphologically altered neurons in neurodegenerative diseases, particularly in the brains of patients with Lewy body diseases.
19672984 The data of this study confirmed that the LRRK2 R1628P variant is associated with an increased risk to develop late onset Parkinson's disease in the ethnic Han-Chinese population.
19672984 Observational study of gene-disease association. (HuGE Navigator)
19640926 Data demonstrate the functional involvement of LRRK2 in the endosomal-autophagic pathway and the recruitment to specific membrane microdomains suggesting a novel function for this important PD-related protein.
19640773 The Gly2385Arg variant of LRRK2 may not be a major risk factor for AD in pure Han Chinese patient.
19640773 Observational study of gene-disease association. (HuGE Navigator)
19625511 data suggest that LRRK2 plays an important role in modulating the response to mitochondrial inhibition and that mutations in LRRK2 may selectively enhance dopaminergic neurons' susceptibility to a stressor associated with Parkinson's disease
19625296 The LRRK2 Roc-COR domain and the DVL1 DEP domain were necessary and sufficient for LRRK2-DVL1 interaction.
19576176 G2019S mutation in Lrrk2 may cause Parkinson disease by generating pathological levels of phosphorylated alpha synuclein.
19570025 In this review, LRRK2 mutations are discussed as a surprisingly common cause of inherited Parkinson's disease.
19559761 These findings suggest that the interaction between LRRK2 and EF1A may reciprocally modulate their physiological function.
19545277 LRRK2 binds and phosphorylates brain tubulin-beta, enhancing tubulin polymerization in the presence of microtubule-associated proteins (MAPS) which may contribute to increased neurite outgrowth.
19538213 We screened a cohort of 88 clinically confirmed progressive supranuclear palsy (PSP) patients for mutations in exon 31. there is no evidence that mutations in exon 31 of LRRK2 are a major risk factor for PSP.
19538213 Observational study of gene-disease association. (HuGE Navigator)
19536328 LRRK2 stability is regulated by the E3 ubiquitin ligase CHIP
19535993 Our data identify the ability of LRRK2 to form inclusion-like aggregates that do not associate with alpha-synuclein.
19527940 The LRRK2 mutation is not associated with essential tremor.
19527940 Observational study of gene-disease association. (HuGE Navigator)
19513331 Observational study of gene-disease association. (HuGE Navigator)
19489756 low frequency alleles distributed throughout LRRK2 are a genetic background to a third of Parkinson's disease cases.
19489756 Observational study of gene-disease association. (HuGE Navigator)
19473361 G2019S and R1441G are common LRRK2 mutations in Parkinson's disease (PD) patients in southern Spain. PARKIN mutations override clinical features in LRRK2-associated PD.
19473361 Observational study of gene-disease association. (HuGE Navigator)
19472409 all LRRK2 variants reported are interpreted and their contribution to Parkinson disease is examined
19458969 LRRK2 or GBA mutations have roles in the initial presentation of Parkinson disease
19412725 The G2019S*LRKK2 mutation is more prevalent in Ashkenazi Parkinson disease patients than in controls or non-Ashkenazi patients, and its contribution to malignant melanoma predisposition in Jewish individuals needs to be explored further
19412725 Observational study of gene-disease association. (HuGE Navigator)
19405094 Observational study of gene-disease association. (HuGE Navigator)
19397894 These observations suggest that LRRK2 I2020T may prove resistant to inhibition with ATP-competitive kinase inhibitors in vivo or in cellular systems.
19357115 Observational study of gene-disease association. (HuGE Navigator)
19353692 In Iranian Parkinson's disease patients at least 0.5% of young cohort and in 3.5% of the familial cases was associated with a mutation in the five exons of LRRK2 screened.
19353692 Observational study of gene-disease association. (HuGE Navigator)
19343804 LRRK2(G2385R) mutations appear to be rare among Japanese patients with Parkinson's disease.
19343804 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19330201 In PARK2 and PARK8 patients, the frequency of mutation was 10.1%, predominantly in women but PARK8 patients did not have a relevant family history of Parkinson disease
19330201 Observational study of gene-disease association. (HuGE Navigator)
19308469 Data suggest that the R1441G mutation of Lrrk2 originated in the Basque population and that dispersion of the mutation then occurred through short-range gene flow that was largely limited to nearby regions in Spain.
19302196 Our findings present evidence of a new class of molecular targets for mutant LRRK2 that link to neurotoxicity, cellular stress, cytoskeletal dynamics and vesicular transport
19283415 Data suggest that Ashkenazi Jews with LRRK2 G2019S mutation share a common ancestor who lived approximately 1,830 (95% CI 1,560-2,160) years ago, around the second century, after the second Jewish Diaspora.
19224617 This study found that modest Modest associations (uncorrected P < 0.05) were observed for common variants around LRRK2 in Australia patient with Parkinson's disease.
19224617 Observational study of gene-disease association. (HuGE Navigator)
19205068 In this study identified the familial cases (late onset), 1 patient had a novel LRRK2 variant, Q923H.
19205068 Observational study of gene-disease association. (HuGE Navigator)
19204172 Observational study of gene-disease association. (HuGE Navigator)
19196961 HSP90 forms a complex with LRRK2, and inhibition of HSP90 chaperone activity by 17AAG leads to proteasomal degradation of LRRK2, resulting in increased cell viability
19172321 Results reveal a Turkish patient heterozygous for the G2019S mutation sharing the Japanese haplotype, and is the first time that the G2019S-associated Japanese haplotype has been reported in a different population.
19076219 only the most prevalent clinical mutation,G2019S, results in a robust enhancement of kinase activity with LRRKtideas the substrate
19065525 structure, function, mutation type and pathogenic mechanism of LRRK2 in Parkinson's disease
19041274 No association was found between age at onset in patients with LRRK2-linked Parkinson disease.
19029519 PET study of presymptomatic members of our LRRK2 kindred revealed dopaminergic dysfunction that progressed over time.
19025767 current state of knowledge regarding the domain structure, amino acid substitutions, and potential functional roles of LRRK2; role in Parkinsion disease [review]
19021752 it has been suggested that LRRK2 functions as an upstream regulator of Parkinson's disease pathogenesis; this minireview explores this model, in the context of current understanding of the biochemistry of LRRK2, alpha-synuclein & tau [review]
19020907 Observational study of gene-disease association. (HuGE Navigator)
19006185 A new LRRK2 mutation L1165P was associated with hippocampal neurofibrillary tangles. phospho-Ser-129-containing alpha-synuclein & cytoplasmic TDP-43 inclusions in the temporal cortex were seen in this pt and one with R793M but not those with G2019S.
18986508 Lifetime penetrance of LRRK2 in relatives of families with multiplex Parkinson's disease is greater than reported in sporadically ascertained LRRK2 cases.
18986508 Observational study of gene-disease association. (HuGE Navigator)
18981379 study found that dyskinesias were significantly more frequent in North African Parkinson disease patients with the G2019S mutation than in noncarriers
18981379 Observational study of gene-disease association. (HuGE Navigator)
18980856 LRRK2 mutations in Parkinson disease are widely distributed across South America but might differ by region in prevalence.
18980856 Observational study of gene-disease association. (HuGE Navigator)
18973807 The identification of autosomal-dominant mutations in the leucine-rich repeat kinase 2 gene (LRRK2) in a significant proportion of cases in some populations redefine the role of genetic susceptibility in Parkinson's disease.
18973254 The most common LRRK2 mutation, G2019S, was not detected in this cohort, suggesting that this mutation does not play a major role in Dutch early-onset Parkinson disease patients.
18973254 Observational study of gene-disease association. (HuGE Navigator)
18952485 This study demenestrated that pathogenic variant (R1441H) has been identified in four probands of diverse ethnicity with parkinsonism.
18936941 Data show that the proportion of LRRK2-immunopositive glial cytoplasmic inclusions is negatively associated with an increase in neuronal loss and alpha-synuclein-immunopositive dystrophic axons in multiple system atrophy.
18927607 No pathogenic mutations were found in LRRK2 protein and are not a frequent cause of Parkinson disease in Nigeria.
18927607 Observational study of gene-disease association. (HuGE Navigator)
18923807 LRRK2 P755L is a non-disease-associated polymorphism in sporadic Parkinson's disease.
18923807 Observational study of gene-disease association. (HuGE Navigator)
18848304 No case of LRRK2 gly2019ser mutation were found in parrkinson disease in Basque.
18809839 Odor identification is diminished in LRRK2 G2019S mutation parkinsonism but the asymptomatic carriers of the mutation had normal olfaction.
18809839 Observational study of gene-disease association. (HuGE Navigator)
18805725 LRRK2 G2019S and R1441C mutations associated with Parkinson's disease were not an uncommon mutation in a Sardinian population. The detection of the G2019S variant in ten unaffected relatives confirms a reduced penetrance of the underlying mutation.
18805725 Observational study of gene-disease association. (HuGE Navigator)
18804399 This study of PARK8-linked parkinsonism affecting several members of the same pedigree shows that the same gene mutation can induce diverse neuropathologies, even if the clinical picture and PET findings are virtually identical.
18781329 LRRK2 R1628P may have a role in Parkinson's disease
18752982 This study suggests that the LRRK2 gene may be a risk factor or the cause for a very small fraction of Parkinson's disease in American white population.
18752982 Observational study of gene-disease association. (HuGE Navigator)
18718805 From the results of this study were unable to identify a presymptomatic marker of LRRK2-related parkinson disease.
18716801 The Arg1628Pro variant is a second risk factor for Parkinson's disease in the Han Chinese population. Adding the estimated effects of Arg1628Pro and Gly2385Arg variants yields a total population attributable risk of approximately 10%.
18716801 Observational study of gene-disease association. (HuGE Navigator)
18704525 Observational study of gene-disease association. (HuGE Navigator)
18701920 chronic inactivation of 4E-BP by LRRK2 with pathogenic mutations deregulates protein translation, eventually resulting in age-dependent loss of DA neurons
18675914 Cells expressing LRRK2 mutants suffer a loss of protection normally derived from wild-type LRRK2, making them more vulnerable to oxidative stress.
18666856 Genetic screening of the G2019S mutation of the LRKK2 gene in Southwestern European, North African. and Sepahrdic Jewish subjects is reported.
18666856 Observational study of genotype prevalence. (HuGE Navigator)
18665323 The high frequency of Lrrk2 G2019S in the Ashkenazi and its absence in the Yemenite Jews suggests a specific ancestral pattern of inheritance in Ashkenazi Jews.
18665323 Observational study of gene-disease association. (HuGE Navigator)
18644660 A report on the relationship between age at onset, clinical course and genotype in a family with combined LRRK2 G2019S and Parkin exon 2 deletions.
18634852 LRRK2 may have direct functional role(s) in the neurophysiology of A9 midbrain doopaminergic neurons
18621566 The G2019S mutation frequency of the LRRK2 gene is rather low in overall patients (0.8%) and in the familial group (1.7%), suggesting that it may be an uncommon cause of Parkinson's disease in Southern Italy.
18621566 Observational study of gene-disease association. (HuGE Navigator)
18617409 We identified no patients with any of the studied mutations/polymorphisms. Very low prevalence of the LRRK2 G2019S mutation has been reported in other southern European populations.
18617409 Observational study of genotype prevalence. (HuGE Navigator)
18602856 Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are an important cause of late-onset, familial and sporadic Parkinson's disease.
18556235 findings indicate that the role of LRRK2 gene in conferring susceptibility to essential tremor is not relevant in Italian population
18544747 Insights into the molecular effects of some of the Parkinson disease-associated mutations of LRRK2, but may also help to improve understanding of intrinsic control mechanism between GTPase and a protein kinase within the same protein.
18541113 The wide clinical-pathologic variability associated with LRRK2 mutations points to the existence of strong modifiers, which are still unknow.
18539535 LRRK2 Gly2019Ser in Arab-Berber patients from Tunisia considerably increases susceptibility to neuronal degeneration, although the process might be mediated by many triggers.
18539535 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18539534 Mutations in LRRK2 are a clinically relevant cause of PD that merit testing in patients with hereditary PD and in subgroups of patients with Parkinson's disease.
18539534 Meta-analysis of gene-disease association. (HuGE Navigator)
18523869 clinical phenotypes and [(18)F]-dopa PET findings for subjects with R1441H or G2385R resembled those of patients with idiopathic PD; however, their lymphoblastoid cell lines showed increased apoptosis following exposure to a proteosome inhibitor
18523869 Observational study of gene-disease association. (HuGE Navigator)
18523722 The mean age of Parkinsonism onset among LRRK2 G2385R carriers was 42.7 years old for early-onset compared to 74.3 for late-onset patients. LRRK2 G2385R mutation appears to be as prevalent among early-onset as late-onset patients.
18523722 Observational study of gene-disease association. (HuGE Navigator)
18486522 In this study found two individuals were heterozygous for the common p.G2019S mutation in LRRK2.
18486522 Observational study of gene-disease association. (HuGE Navigator)
18484993 the overall prevalence of the G2019S mutation in LRRK2 in German Parkinson's disease patients is apparently somewhat lower than in patients from other nearby European countries
18484993 Observational study of gene-disease association. (HuGE Navigator)
18464276 PARK8 might be the second most important disease causing gene in early-onset Parkinson's disease Brazilian patients.
18464276 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18450497 We conclude that the Gly2385Arg variant is not associated with primary dystonia in Taiwan.
18450497 Observational study of gene-disease association. (HuGE Navigator)
18445495 Results suggest that LRRK2, in conjunction with its interaction with Rab5b, plays an important role in synaptic function by modulating the endocytosis of synaptic vesicles.
18435766 investigate the frequency of LRRK2 mutations in a sample of Russian Parkinson's disease patients
18435766 Observational study of gene-disease association. (HuGE Navigator)
18434642 Observational study of gene-disease association. (HuGE Navigator)
18412265 Herein we show evidence for leucine-rich repeat kinase 2 (LRRK2) c.4883G>C (R1628P) as a Parkinson Disease risk factor in ethnic Chinese populations.
18412265 Observational study of gene-disease association. (HuGE Navigator)
18397888 LRRK2 is a dimer that undergoes intramolecular autophosphorylation
18379513 The clinical picture of all patients with the LRRK2-G2019S mutation was typical for levodopa-responsive parkinsonism and age of disease onset varied widely (from 39 to 71 years).
18379513 Observational study of gene-disease association. (HuGE Navigator)
18378882 Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18353371 LRRK2 G2019S mutation occurred in patients with parkinsonism associated with either typical brainstem LB pathology or non-specific nigral degeneration, were not encountered in other neurodegenerative disorders associated with synuclein and tau deposition.
18353371 Observational study of gene-disease association. (HuGE Navigator)
18338801 Role of LRRK2 in cell signaling and its impact on proliferation, differentiation, and survival of neurons and mutation in Parkinson disease [REVIEW]
18337586 Age of onset and clinical features in Lrrk2 Arg1441Cys patients are similar to idiopathic and Lrrk2 Gly2019Ser parkinsonism.
18322396 LRRK2 is directly associated with the pathological structures of Parkinson's disease, dementia with Lewy bodies, and other related disorders using highly specific antibodies to LRRK2.
18322385 Overexpression of human LRRK2 strongly protects Caenorhabditis elegans against cellular responses to the mitochondrial toxin rotenone.
18316234 The LRRK2 Gly2385Arg variant is not a significant risk factor for ET in the population of this study.
18316234 Observational study of gene-disease association. (HuGE Navigator)
18272292 LRRK2 are active in the adult human cortex cerebri, hippocampus and striatum. Also seen in the young human thymus and tubular parts of the adult human kidney.
18265005 The lack of functional data, absence of segregation of the variant with disease, and the presence of the variant in apparently healthy individuals suggest that P755L is possibly a rare polymorphism in the Chinese population.
18265005 Observational study of gene-disease association. (HuGE Navigator)
18230735 The ROC domain may regulate LRRK2 kinase activity as a dimer, possibly via the C-terminal of ROC (COR) domain as a molecular hinge.
18214993 At a subcellular level, endogenous LRRK2 colocalizes with alpha/beta-tubulin in primary hippocampal neurons and interacts with microtubules, a structural component of the cell that is critically involved in the pathogenesis of Parkinson's disease.
18213618 sequencing of all coding exons in a series of 275 PD cases and 275 neurologically normal controls and analysis of the LRRK2 locus for whole gene multiplications or deletions
18213618 Observational study of gene-disease association. (HuGE Navigator)
18211709 This study found mutations in LRRK2 genes. Seven of the studied patients showed pathogenic mutations, in compound heterozygosity for LRRK2.
18211709 Observational study of genotype prevalence. (HuGE Navigator)
18201824 Our findings suggest that the LRRK2 p.G2019S mutation has a substantial contribution to PD susceptibility among Brazilian population and add new clues to current research of this disease.
18201824 Observational study of gene-disease association. (HuGE Navigator)
18201193 LRRK2 p.2385G>R substitution contributes to the development of PD in ethnic Han-Chinese population.
18197194 prevalence of mutations in two major functional domains of the leucine-rich repeat kinase 2 gene (LRRK2) in Belgian Parkinson's disease (PD) patients (N=304) of which 18.1% were familial PD patients
18182054 These results indicate an active role for autophagy in neurite remodeling induced by pathogenic mutation of LRRK2.
18098275 Results suggest a broader clinical heterogeneity related to LRRK2 mutations.
18097693 changes in the expression profiles of SH-SY5Y cells, a dopaminergic neuroblastoma cell line, induced by a depletion of LRRK2 levels by RNA interference
18097165 Mutations in LRRK2 as a cause of Parkinson's disease.
18045479 Endogenous human LRRK2 expression is detected during development in temporal lobe.
17999435 The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: phenotype in monozygotic twins.
17978862 show that the LRRK2 sequence and expression patterns are conserved between pig and human
17971075 an association of LRRK2 with possible early-stage alpha-synuclein pathology in the brainstem of Parkinson's disease
17960808 Observational study of gene-disease association. (HuGE Navigator)
17960808 LRRK2 Gly2385Arg variant is a potential ethnic-specific genetic risk factor of Parkinson's disease within Chinese Han ethnicity
17938369 Observational study of gene-disease association. (HuGE Navigator)
17938369 Our data suggest that the LRRK2 G2019S mutation plays an important role in the causality of familial and sporadic Parkinson disease (PD) in Israel and that gender affects its frequency among patients.
17914064 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
17914064 The clinical presentation of LRRK2-associated neurodegenerative disease may be more heterogeneous than previously assumed.
17880562 Observational study of gene-disease association. (HuGE Navigator)
17880562 glycine2019serine mutation of LRRK2 suggests a pivotal role in Greek patients with sporadic-late onset Parkinson's disease.
17868389 Observational study of gene-disease association. (HuGE Navigator)
17846883 we did not detect the G2019S mutation in any of 769 Italian Alzheimer disease patients
17846883 Observational study of genotype prevalence. (HuGE Navigator)
17804834 Results identify five novel variants in LRRK2, which correlate with familial later-onset Parkinson disease.
17803033 Observational study of genotype prevalence. (HuGE Navigator)
17803033 In our cohort, we were unable to detect any of the known mutations in these exons or identify novel mutations within the LRRK2 gene.
17803032 Observational study of gene-disease association. (HuGE Navigator)
17803032 We performed a case-control association study in 125 French-Canadian (FC) patients with PD and 95 FC controls and found that common variants in LRRK2 are unlikely to be a significant cause of late-onset PD in this founder population.
17720280 The common Gly2385Arg Asian variant of LRRK2 is unlikely to play a major role or modulate the risk of Alzheimer's disease in this Asian population.
17720280 Observational study of gene-disease association. (HuGE Navigator)
17706965 LRRK2 may play a central role in integrating pathways involved in neuronal cell signaling and the pathogenesis of Parkinson's disease.
17659642 Observational study of gene-disease association. (HuGE Navigator)
17659642 The relevance of Gly2385Arg as a genetic risk factor of parkinson disease may be restricted to selected Asian races.
17639429 Lrrk2 is linked to frontotemporal atrophy of PPND type caused by N279K tau mutation.
17625107 The results fit with the concept that in LRRK2 PD, parkinsonism, cardiac sympathetic denervation, and baroreflex failure can result from a common pathogenetic process.
17622782 Observational study of genotype prevalence. (HuGE Navigator)
17622782 The results also show that G2019S represents approximately half of the LRRK2 mutations in United States PD cases with a family history of the disease. We have identified two novel mutations in LRRK2.
17614198 Observational study of gene-disease association. (HuGE Navigator)
17614198 Lrrk2 G2019S may play an important role in Parkinson's disease on the South American Continent
17611037 Lrrk2 immunohistochemical staining was present in the subventricular zone, a region containing stem cells that give rise to both neurons and glia.
17596714 The LRRK2 G2019S mutation is as frequent in families with possible autosomal recessive PD (2.2%) as in the sporadic cases published elsewhere (1.9%).
17584768 autophosphorylation of LRRK2 is an intermolecular reaction and targets two residues within the activation segment, the G2019S mutation enhances the catalytic activity of LRRK2.
17540608 Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain.
17540608 Observational study of genotype prevalence. (HuGE Navigator)
17523199 Observational study of genotype prevalence. (HuGE Navigator)
17523199 This study detected a novel missense mutation (S973N) in a patient with familial, late-onset and dopa-responsive PD.
17512502 Involvement of LRRK2 in the molecular pathogenesis of familial and sporadic parkinsonism, with enzyme localization in the nigrostriatal dopaminergic pathway.
17482357 Observational study of genotype prevalence. (HuGE Navigator)
17482357 Therefore, we conclude that LRKK2 P755L variant is a rare cause of Caucasian PD and has no diagnostic utility in genetic testing of this population of patients.
17470139 Observational study of genotype prevalence. (HuGE Navigator)
17470139 LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease.
17469194 Observational study of gene-disease association. (HuGE Navigator)
17469194 The G2019S mutation of the LRRK2 gene is a very common genetic determinant among the Portuguese patients with Parkinson's disease, and the R1441H mutation is also present in this population.
17447891 Only one of the mutations analysed, namely G2019S, stimulated kinase activity. Four mutations inhibited LRRK2 kinase activity (R1941H, I2012T, I2020T and G2385R), whereas the remainder (R1441C, R1441G, Y1699C and T2356I) did not influence activity.
17440812 dysfunction of LRRK2 protein leads to neurodegeneration in parkinson disease--REVIEW
17433753 A founding haplotype for the G2019 (6055G>A) mutation of the LRRK2 gene was identified in our data and it is shared by families from Tunisia, US, European and Middle Eastern countries.
17427941 Observational study of genotype prevalence. (HuGE Navigator)
17427941 G2019S mutation carriers share the same ancestors who migrated to Australia originally from Europe and that other LRRK2 mutations (R1441H and A1442P) can be found in this population.
17419834 Observational study of gene-disease association. (HuGE Navigator)
17409193 Studies of protein domains in LRRK2 (LRR and WD40) show that disease-associated mutant LRRK2 cell toxicity is due to mitochondria-dependent apoptosis.
17395370 study indicated that the I2020T mutation, an essential pathogenic mutation of PARK8-related Parkinson's disease, had occurred independently in the two Parkinson's disease families
17394548 mutations in LRRK2 are more prone to form inclusion bodies in transfected cells and are more toxic than equivalent mutations in LRRK1
17388990 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
17388990 frequency of the LRRK2 G2019S was 0.7% amongst the sporadic Parkinson's disease patients (2/291) and 7.7% amongst familial Parkinson's disease (1/13) in Russia
17385669 The results of this pilot project indicate significant alterations in key signalling proteins in leukocytes from patients with PD, and were most pronounced in G2019S-associated PD.
17377919 Common variaations occur in Parkinson disease.
17353388 Observational study of genotype prevalence. (HuGE Navigator)
17353388 We identified 2 novel variants. Although the phenotype of LRRK2 mutation carriers closely resembles that of typical PD, the age at onset was younger (29 years in 1 patient) than previously described, and 3 patients were improved by deep brain stimulation.
17352347 Observational study of genotype prevalence. (HuGE Navigator)
17341485 Study describes the localization of LRRK2 in Golgi apparatus, plasma membrane and synaptic vesicles in HeLa and SH-SY5Y cells.
17335904 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17324517 Observational study of gene-disease association. (HuGE Navigator)
17314670 Observational study of gene-disease association. (HuGE Navigator)
17314670 Our results suggest that the LRRK2 G2385R variant is a risk factor for sporadic Parkinson disease in the Asian population.
17260967 binding of GTP to the ROC domain regulates the kinase activity of LRRK2 as well as its phosphorylation by other kinase(s).
17253937 Observational study of genotype prevalence. (HuGE Navigator)
17253937 The R1441G mutation was absent in our Parkinson's disease sporadic cases, but the G2019S mutation was present in 2 of them (1.9%).
17235449 Observational study of genotype prevalence. (HuGE Navigator)
17235449 These results confirm that the G2019S mutation is a relevant cause of sporadic Parkinson's disease cases in the Italian population.
17230458 Observational study of gene-disease association. (HuGE Navigator)
17230458 it is concluded that the G2019S mutation in the LRRK2 gene is unlikely to be associated with multiple system atrophy
17225181 Comparison of evolutionary interspecies sequences of LRRK1 and LRRK2 suggests they diverged from a common founder gene implicated in Parkinson disease.
17222580 Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia.
17222106 Observational study of gene-disease association. (HuGE Navigator)
17222106 LRRK2 mutations are present in patients with autosomal dominant Parkinson's disease (AdPD)and sporadic PD patients of Greek origin.
17216639 Observational study of gene-disease association. (HuGE Navigator)
17215492 This study provides accurate estimates of G2019S penetrance by minimizing the selection bias.
17200152 Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity.
17187665 Observational study of gene-disease association. (HuGE Navigator)
17187665 These data suggest that the G2385R variant contributes significantly to the etiology of PD in ethnic Han Chinese individuals.
17179858 Observational study of gene-disease association. (HuGE Navigator)
17179858 A novel P755L mutation in LRRK2 gene associated with Parkinson's disease.
17160203 The recent identification of a common genetic variant (LRRK2 G2385R) which is associated with a two-fold increased risk of sporadic Parkinson's Disease (PD) in two independent Chinese populations in Singapore and Taiwan.
17151837 This study identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman with frontotemporal lobar degeneration with ubiquitinated neuronal intranuclear inclusions and a possible family history of tremor.
17149721 Observational study of gene-disease association. (HuGE Navigator)
17116211 Observational study of gene-disease association. (HuGE Navigator)
17116211 Possibility of genetic testing for the G2019S mutation in patients with sporadic Parkinsin disease.
17115391 Observational study of gene-disease association. (HuGE Navigator)
17115391 The frequency of mutations in Tunisian families was 42% (38/91) and in U.S. families 2.6% (1/39), with the unique opportunity to compare homozygous (n = 23) and heterozygous (n = 109) Tunisian carriers of G2019S substitutions.
17097110 Observational study of genotype prevalence. (HuGE Navigator)
17097110 Hispanic female was heterozygous for the LRRK2 R1441G mutation, and six other cases including 2 non-Jewish/non-Hispanic whites, 3 Ashkenazi Jewish, and 1 Hispanic, were found to be heterozygous for the LRRK2 G2019S mutation.
17083102 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
17080443 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17078063 These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent.
17060595 R1441H LRRK2 mutation underlies disease entities representing transitional forms between Parkinson Disease and progressive supranuclear palsy.
17052850 Observational study of gene-disease association. (HuGE Navigator)
17050822 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
17050822 The G2019S mutation is a risk factor in both early- and late-onset Parkinson disease and confirms the previous report of a greater frequency of the G2019S mutation in Jewish than in non-Jewish cases with Parkinson disease.
17044089 Observational study of gene-disease association. (HuGE Navigator)
17044089 In Russia the frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD (1 [0.6%] of 157).
17020475 Observational study of genetic testing. (HuGE Navigator)
17019612 Observational study of gene-disease association. (HuGE Navigator)
17019612 heterozygous Gly2385Arg genotype remained associated with an increased risk of Parkinson disease compared to wild type genotype (odds ratio = 2.67, 95% CI: 1.43-4.99, P = 0.002)
17017534 LRRK2 may be central to the pathogenesis of several major neurodegenerative disorders associated with parkinsonism--REVIEW
17017533 LRRK2 mutations are relatively common genetic causes of familial and sporadic Parkinson disease--REVIEW
16991141 Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques.
16966681 The Parkinson disease gene LRRK2: evolutionary and structural insights.
16966502 Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect.
16966501 Five LRRK2 G2019S carriers were identified, of whom 4 had Parkinson disease (clinically and pathologically confirmed).
16966498 Mutation of LRRK2 are the most common cause of Parkinson disease.
16939701 Observational study of genotype prevalence. (HuGE Navigator)
16928343 LARRK2 displays a clinical, and a pathologic, phenotype that resembles very closely the common forms of patkonson disease.
16865326 We screened 54 patients with ALS for seven known Lrrk2 pathogenic substitutions in the Roc, COR and kinase domains. No mutations were observed suggesting that this locus does not have a major influence on the ALS phenotype.
16822348 Pathogenic mutations in the LRRK2 gene cause a significant proportion of clinically typical, late-onset PD. This review summarizes the current knowledge on the contribution of LRRK2 mutations in understanding parkinsonism.
16817197 Observational study of gene-disease association. (HuGE Navigator)
16781064 Glucocerebrosidase and LRRK2 mutations are discrete risk factors for parkinsonism in both Ashkenazi Jewish and non-Jewish subjects.
16758483 Observational study of genotype prevalence. (HuGE Navigator)
16750929 Observational study of gene-disease association. (HuGE Navigator)
16750929 Clinical features in carriers were those of typical, idiopathic Parkinson's disease; however, behavioural abnormalities were frequent (87%), suggesting a more widespread limbic involvement in G2019S carriers.
16750377 Neurons and neuronal cell lines undergo cell death after expression of this mutant protein in Parkinson disease.
16750377 The toxic effects of mutant LRRK2 protein can be prevented by altering the kinase domain so that the protein is "kinase-dead".
16728648 Observational study of genotype prevalence. (HuGE Navigator)
16671078 In patients carrying the LRRK2 Gly2019Ser mutation, the neurodegenerative process results in a pattern of nigrostriatal dopaminergic dysfunction similar to that observed in
16643318 Observational study of gene-disease association. (HuGE Navigator)
16633828 Observational study of gene-disease association. (HuGE Navigator)
16633828 Our findings suggest that the LRRK2 Gly2385Arg is the first identified, functionally relevant variant, which acts as common risk factor for sporadic PD in the population of Chinese ethnicity.
16632201 Observational study of gene-disease association. (HuGE Navigator)
16632201 LRRK2 mutation has a relatively high frequency in the population o fAshkenazi Jewish , is not fully penetrant for parkinsonism in the elderly, and does not appear to be commonly associated with late-onset dementia.
16622859 Observational study of genotype prevalence. (HuGE Navigator)
16622859 Mutation frequency raised from 1.2% in early onset PD to 4.0% in late onset Parkinson disease.
16622854 Heterozygous misssense mutations in exon 41 are common in Parksinson disease.
16616379 This review places the PD-associated mutations of leucine-rich repeat kinase 2 (LRRK2) in a structural and functional framework, with the ultimate aim of deciphering the molecular basis of LRRK2-associated pathogenesis.
16614029 Observational study of gene-disease association. (HuGE Navigator)
16614029 Our objectives were to determine G2019S mutation frequency in an unselected, community based cohort of idiopathic PD cases from the UK and to describe phenotypic characteristics among carriers
16602113 Observational study of genotype prevalence. (HuGE Navigator)
16602113 We highlight the first case of LRRK2 R1441C mutation in late onset sporadic PD of non-European ancestry. Furthermore, extensive mutational screen found LRRK2 mutations to be rare among patients who presented with PSP, MSA, CBGD, and AP.
16533964 Observational study of genotype prevalence. (HuGE Navigator)
16533964 The G2019S mutation frequency in PD patients from northeast Spain is similar to that reported in other European regions. The R1441G mutation is very uncommon in Catalonia.
16511860 Observational study of genotype prevalence. (HuGE Navigator)
16511860 The extreme rarity of the G2019S mutation in Taiwan in Parkinson disease suggests the occurrence of this mutation resulted from a common European founder
16467219 Observational study of gene-disease association. (HuGE Navigator)
16467219 This is the first comprehensive analysis of common variability within LRRK2 as a risk factor for Parkinson's disease (PD).
16437559 Lrrk2 G2019S was observed in approximately 2% (n = 8) of Parkinson's disease/Lewy body disease cases (n = 405).
16436782 The G2019S mutation appears to be an important cause of both familial and sporadic Parkinson's disease in a group of Ashkenazi Jewish subjects.
16436781 the frequency of the G2019S mutation in this gene is remarkably high in North African Arabs with familial Parkinsons's disease
16352719 LRRK2 may be involved in a pathogenic pathway with other parkinson's disease (PD) -related proteins such as parkin, which may help illuminate both familial and sporadic PD
16333314 LRRK2 mutations are frequent in autosomal dominant Parkinson's disease, and they cluster in the C-terminal half of the encoded protein
16321986 The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity.
16298482 Observational study of gene-disease association. (HuGE Navigator)
16275903 examination of mutations responsible for Parkinson disease
16272257 Observational study of gene-disease association. (HuGE Navigator)
16272257 the G2019S mutation in LRRK2 is the most common genetic determinant of Parkinson's disease identified so far
16269541 results suggest a gain-of-function mechanism for LRRK2-linked disease with a central role for kinase activity in the development of Parkinson disease
16269443 Observational study of gene-disease association. (HuGE Navigator)
16269443 The first evidence that common genetic variation within LRRK2 contributes to the risk of sporadic PD in the Chinese population was provided.
16254973 Observational study of gene-disease association. (HuGE Navigator)
16254973 We have therefore no evidence for the existence of a common variant in LRRK2 that has a strong influence on Parkinson's disease risk
16251215 Observational study of gene-disease association. (HuGE Navigator)
16250030 Observational study of gene-disease association. (HuGE Navigator)
16250030 LRRK2 G2019S is the single most common pathogenic mutation linked to neurodegenerative disease to date.
16247070 Sequence analysis of 29 exons coding for functional domains of LRRK2 in 160 nondominant Parkinson disease patients was performed. Two novel variants (R1067Q and IVS33 + 6 T>A) were found, which are likely to be pathogenic in five patients.
16240353 Observational study of genotype prevalence. (HuGE Navigator)
16240353 LRRK2 mutations appear to be a common cause of autosomal dominant PD, particularly in North Africa.
16172858 Lrrk2 pathogenic substitutions may have a role in Parkinson's disease
16157909 Observational study of gene-disease association. (HuGE Navigator)
16157909 These data confirm the important contribution of LRRK2 to PD susceptibility in a clinic-based population.
16157908 Observational study of gene-disease association. (HuGE Navigator)
16157908 Thus LRRK2 mutations only rarely cause idiopathic PD.
16157901 Observational study of gene-disease association. (HuGE Navigator)
16157901 The common coding variations in the LRRK2 gene neither constitute strong PD risk factors nor modify the age at onset; however, the possibility of a modest risk effect remains to be assessed in large datasets.
16149095 Observational study of gene-disease association. (HuGE Navigator)
16149095 G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.
16145815 analysis of a common founder effect in the G2019S mutation of LRRK2 dating from the 13th century
16115731 Observational study of gene-disease association. (HuGE Navigator)
16115731 It can be concluded that the G 2019 S and I 2020 T mutations in exon 41 of LRRK 2 gene are rare causes of Parkinson disease in a Polish population.
16102903 Observational study of gene-disease association. (HuGE Navigator)
16102903 We screened for the most common LRRK 2 mutation in a series of patients with Parkinson's Disease, Alzheimer's disease, Progressive Supranuclear Palsy, Multiple System Atrophy and frontotemporal dementia, as well as in neurologically normal controls.
16087219 Observational study of genotype prevalence. (HuGE Navigator)
16001413 A healthy octogenarian shows that a G2019S mutation carrier can live to old age free parkinson disease.
15955629 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15955629 This longitudinal analysis provides preliminary evidence that changes in platelet MAO activity and cholesterol, which may reflect changes in central serotonergic activity are associated with attention deficit in adolescents.
15955578 The LRRK2 mutation as a cause of Parkinson's disease.
15929036 the G2019S mutation of LRRK2 is responsible for 1 to 2% of Parkinson disease patients in a North American population
15925109 Observational study of gene-disease association. (HuGE Navigator)
15884041 Missense mutation Gly2019Ser of LRRK2 gene is associated of parkinson disease.
15880653 missense mutation in the kinase domain of the LRRK2 gene in members with autosomal dominant Parkinson's disease
15852371 Observational study of gene-disease association. (HuGE Navigator)
15732108 we describe two families with autosomal dominant Parkinson's disease caused by a LRRK2 G2019S mutation.
15726496 our study demonstrates that LRRK2 G2019S accounts for parkinsonism in several families within Europe and North America. Our work highlights the fact that a proportion of clinically typical, late-onset PD cases have a genetic basis.
15680457 Observational study of genotype prevalence. (HuGE Navigator)
15680457 LRRK2 gene heterozygous mutation (Gly2019 ser) CAUSE dominantly inherited Parkinson's disease.
15680456 confirm association of LRRK2 heterozygous mutation (Gly2019 ser)with neurodegeneration, and identify a common mutation associated with dominantly inherited Parkinson's disease.
15680455 a single LRRK2 mutation (a novel mutation (Gly2019 ser) causes Parkinson's disease in 5% of individuals with familial disease
15541309 LRRK2 may be central to the pathogenesis of several major neurodegenerative disorders associated with parkinsonism
15541308 missense mutations segregating with PARK8-linked Parkinson's disease
14691730 PARK8 locus is responsible for the disease in a subset of families of white ancestry with autosomal dominant parkinsonism
11891824 A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1

AA Sequence 

MASGSCQGCEEDEETLKKLIVRLNNVQEGKQIETLVQILEDLLVFTYSERASKLFQGKNIHVPLLIVLDS      1 - 70
YMRVASVQQVGWSLLCKLIEVCPGTMQSLMGPQDVGNDWEVLGVHQLILKMLTVHNASVNLSVIGLKTLD     71 - 140
LLLTSGKITLLILDEESDIFMLIFDAMHSFPANDEVQKLGCKALHVLFERVSEEQLTEFVENKDYMILLS    141 - 210
ALTNFKDEEEIVLHVLHCLHSLAIPCNNVEVLMSGNVRCYNIVVEAMKAFPMSERIQEVSCCLLHRLTLG    211 - 280
NFFNILVLNEVHEFVVKAVQQYPENAALQISALSCLALLTETIFLNQDLEEKNENQENDDEGEEDKLFWL    281 - 350
EACYKALTWHRKNKHVQEAACWALNNLLMYQNSLHEKIGDEDGHFPAHREVMLSMLMHSSSKEVFQASAN    351 - 420
ALSTLLEQNVNFRKILLSKGIHLNVLELMQKHIHSPEVAESGCKMLNHLFEGSNTSLDIMAAVVPKILTV    421 - 490
MKRHETSLPVQLEALRAILHFIVPGMPEESREDTEFHHKLNMVKKQCFKNDIHKLVLAALNRFIGNPGIQ    491 - 560
KCGLKVISSIVHFPDALEMLSLEGAMDSVLHTLQMYPDDQEIQCLGLSLIGYLITKKNVFIGTGHLLAKI    561 - 630
LVSSLYRFKDVAEIQTKGFQTILAILKLSASFSKLLVHHSFDLVIFHQMSSNIMEQKDQQFLNLCCKCFA    631 - 700
KVAMDDYLKNVMLERACDQNNSIMVECLLLLGADANQAKEGSSLICQVCEKESSPKLVELLLNSGSREQD    701 - 770
VRKALTISIGKGDSQIISLLLRRLALDVANNSICLGGFCIGKVEPSWLGPLFPDKTSNLRKQTNIASTLA    771 - 840
RMVIRYQMKSAVEEGTASGSDGNFSEDVLSKFDEWTFIPDSSMDSVFAQSDDLDSEGSEGSFLVKKKSNS    841 - 910
ISVGEFYRDAVLQRCSPNLQRHSNSLGPIFDHEDLLKRKRKILSSDDSLRSSKLQSHMRHSDSISSLASE    911 - 980
REYITSLDLSANELRDIDALSQKCCISVHLEHLEKLELHQNALTSFPQQLCETLKSLTHLDLHSNKFTSF    981 - 1050
PSYLLKMSCIANLDVSRNDIGPSVVLDPTVKCPTLKQFNLSYNQLSFVPENLTDVVEKLEQLILEGNKIS   1051 - 1120
GICSPLRLKELKILNLSKNHISSLSENFLEACPKVESFSARMNFLAAMPFLPPSMTILKLSQNKFSCIPE   1121 - 1190
AILNLPHLRSLDMSSNDIQYLPGPAHWKSLNLRELLFSHNQISILDLSEKAYLWSRVEKLHLSHNKLKEI   1191 - 1260
PPEIGCLENLTSLDVSYNLELRSFPNEMGKLSKIWDLPLDELHLNFDFKHIGCKAKDIIRFLQQRLKKAV   1261 - 1330
PYNRMKLMIVGNTGSGKTTLLQQLMKTKKSDLGMQSATVGIDVKDWPIQIRDKRKRDLVLNVWDFAGREE   1331 - 1400
FYSTHPHFMTQRALYLAVYDLSKGQAEVDAMKPWLFNIKARASSSPVILVGTHLDVSDEKQRKACMSKIT   1401 - 1470
KELLNKRGFPAIRDYHFVNATEESDALAKLRKTIINESLNFKIRDQLVVGQLIPDCYVELEKIILSERKN   1471 - 1540
VPIEFPVIDRKRLLQLVRENQLQLDENELPHAVHFLNESGVLLHFQDPALQLSDLYFVEPKWLCKIMAQI   1541 - 1610
LTVKVEGCPKHPKGIISRRDVEKFLSKKRKFPKNYMSQYFKLLEKFQIALPIGEEYLLVPSSLSDHRPVI   1611 - 1680
ELPHCENSEIIIRLYEMPYFPMGFWSRLINRLLEISPYMLSGRERALRPNRMYWRQGIYLNWSPEAYCLV   1681 - 1750
GSEVLDNHPESFLKITVPSCRKGCILLGQVVDHIDSLMEEWFPGLLEIDICGEGETLLKKWALYSFNDGE   1751 - 1820
EHQKILLDDLMKKAEEGDLLVNPDQPRLTIPISQIAPDLILADLPRNIMLNNDELEFEQAPEFLLGDGSF   1821 - 1890
GSVYRAAYEGEEVAVKIFNKHTSLRLLRQELVVLCHLHHPSLISLLAAGIRPRMLVMELASKGSLDRLLQ   1891 - 1960
QDKASLTRTLQHRIALHVADGLRYLHSAMIIYRDLKPHNVLLFTLYPNAAIIAKIADYGIAQYCCRMGIK   1961 - 2030
TSEGTPGFRAPEVARGNVIYNQQADVYSFGLLLYDILTTGGRIVEGLKFPNEFDELEIQGKLPDPVKEYG   2031 - 2100
CAPWPMVEKLIKQCLKENPQERPTSAQVFDILNSAELVCLTRRILLPKNVIVECMVATHHNSRNASIWLG   2101 - 2170
CGHTDRGQLSFLDLNTEGYTSEEVADSRILCLALVHLPVEKESWIVSGTQSGTLLVINTEDGKKRHTLEK   2171 - 2240
MTDSVTCLYCNSFSKQSKQKNFLLVGTADGKLAIFEDKTVKLKGAAPLKILNIGNVSTPLMCLSESTNST   2241 - 2310
ERNVMWGGCGTKIFSFSNDFTIQKLIETRTSQLFSYAAFSDSNIITVVVDTALYIAKQNSPVVEVWDKKT   2311 - 2380
EKLCGLIDCVHFLREVMVKENKESKHKMSYSGRVKTLCLQKNTALWIGTGGGHILLLDLSTRRLIRVIYN   2381 - 2450
FCNSVRVMMTAQLGSLKNVMLVLGYNRKNTEGTQKQKEIQSCLTVWDINLPHEVQNLEKHIEVRKELAEK   2451 - 2520
MRRTSVE                                                                  2521 - 2527
//

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PMID Year Title
27357661 2016 Structural model of the dimeric Parkinson's protein LRRK2 reveals a compact architecture involving distant interdomain contacts.
27314038 2016 G2385R and I2020T Mutations Increase LRRK2 GTPase Activity.
27013965 2016 Protective LRRK2 R1398H Variant Enhances GTPase and Wnt Signaling Activity.
27004687 2016 Regulation of LRRK2 promoter activity and gene expression by Sp1.
26930193 2016 Parkinson-Related LRRK2 Mutation R1628P Enables Cdk5 Phosphorylation of LRRK2 and Upregulates Its Kinase Activity.
26865512 2016 Urinary LRRK2 phosphorylation predicts parkinsonian phenotypes in G2019S LRRK2 carriers.
26844546 2016 A Missense LRRK2 Variant Is a Risk Factor for Excessive Inflammatory Responses in Leprosy.
26824392 2016 Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases.
26747879 2016 Absence of LRRK2 mutations in a cohort of patients with idiopathic REM sleep behavior disorder.
26651604 2015 Neurite Aggregation and Calcium Dysfunction in iPSC-Derived Sensory Neurons with Parkinson's Disease-Related LRRK2 G2019S Mutation.
26600626 2015 Analysis of the LRRK2 p.G2019S mutation in Colombian Parkinson's Disease Patients.
26536050 2016 Intact working memory in non-manifesting LRRK2 carriers--an fMRI study.
26519280 2015 Phenotypical Differences in Neuronal Cultures Derived via Reprogramming the Fibroblasts from Patients Carrying Mutations in Parkinsonian Genes LRRK2 and PARK2.
26468079 2015 Sleep aspects on video-polysomnography in LRRK2 mutation carriers.
26403521 2016 A High-Throughput Screen to Identify LRRK2 Kinase Inhibitors for the Treatment of Parkinson's Disease Using RapidFire Mass Spectrometry.
26384650 2015 Leucine-Rich Repeat Kinase 2 (LRRK2) phosphorylates p53 and induces p21(WAF1/CIP1) expression.
26375402 2015 Leucine-rich repeat kinase 2 interacts with p21-activated kinase 6 to control neurite complexity in mammalian brain.
26366513 2015 REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers.
26365310 2015 LRRK2 G2019S mutation attenuates microglial motility by inhibiting focal adhesion kinase.
26355680 2015 The Parkinson's Disease-Associated Protein Kinase LRRK2 Modulates Notch Signaling through the Endosomal Pathway.
26346174 2015 Cognitive Impairments in LRRK2-Related Parkinson's Disease: A Study in Chinese Individuals.
26311745 2015 Greater motor progression in patients with Parkinson disease who carry LRRK2 risk variants.
26310572 2015 Conformational heterogeneity of the Roc domains in C. tepidum Roc-COR and implications for human LRRK2 Parkinson mutations.
26306001 2015 Clinical and imaging markers in premotor LRRK2 G2019S mutation carriers.
26268663 2016 Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI).
26268594 2015 LRRK2 Facilitates tau Phosphorylation through Strong Interaction with tau and cdk5.
26234753 2015 LRRK2 A419V variant is a risk factor for Parkinson's disease in Asian population.
26213354 2015 Novel LRRK2 mutations in Parkinsonism.
26177462 2015 Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers.
26159606 2015 Mutations in LRRK2 potentiate age-related impairment of autophagic flux.
26123485 2015 Selective expression of Parkinson's disease-related Leucine-rich repeat kinase 2 G2019S missense mutation in midbrain dopaminergic neurons impairs dopamine release and dopaminergic gene expression.
26062626 2015 Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium.
26056228 2015 I2020T mutant LRRK2 iPSC-derived neurons in the Sagamihara family exhibit increased Tau phosphorylation through the AKT/GSK-3? signaling pathway.
26011561 2015 High nigral iron deposition in LRRK2 and Parkin mutation carriers using R2* relaxometry.
26009181 2015 Alterations in late endocytic trafficking related to the pathobiology of LRRK2-linked Parkinson's disease.
25962553 2015 LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis.
25952961 2015 Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease.
25939886 2015 LRRK2 dephosphorylation increases its ubiquitination.
25926623 2015 The G2019S LRRK2 mutation increases myeloid cell chemotactic responses and enhances LRRK2 binding to actin-regulatory proteins.
25899316 2015 Identification of novel variants in LRRK2 gene in patients with Parkinson's disease in Serbian population.
25888648 2015 LRRK2 mutations and neurotoxicant susceptibility.
25842821 [Molecular basis of Parkinson's disease linked with mutations in the LRRK2 gene].
25840672 2015 Cognitive and behavioral symptoms in Parkinson's disease patients with the G2019S and R1441G mutations of the LRRK2 gene.
25830304 2015 No dopamine cell loss or changes in cytoskeleton function in transgenic mice expressing physiological levels of wild type or G2019S mutant LRRK2 and in human fibroblasts.
25821816 2015 Evaluating LRRK2 genetic variants with unclear pathogenicity.
25809001 2015 Nonmotor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene.
25804954 2015 Lack of exacerbation of neurodegeneration in a double transgenic mouse model of mutant LRRK2 and tau.
25786808 2015 Low-variance RNAs identify Parkinson's disease molecular signature in blood.
25761573 2015 Lrrk2 R1628P variant is a risk factor for essential tremor.
25731749 2015 Adenoviral-mediated expression of G2019S LRRK2 induces striatal pathology in a kinase-dependent manner in a rat model of Parkinson's disease.
25703537 2015 Function and dysfunction of leucine-rich repeat kinase 2 (LRRK2): Parkinson's disease and beyond.
25650144 2015 Cognitive profile of LRRK2-related Parkinson's disease.
25648416 2015 A visual review of the interactome of LRRK2: Using deep-curated molecular interaction data to represent biology.
25642632 2015 Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
25605758 2015 An early endosome regulator, Rab5b, is an LRRK2 kinase substrate.
25521227 2015 Association of the LRRK2 genetic polymorphisms with leprosy in Han Chinese from Southwest China.
25511328 2015 An association analysis of the R1628P and G2385R polymorphisms of the LRRK2 gene in multiple system atrophy in a Chinese population.
25501810 2015 LRRK2 functions in synaptic vesicle endocytosis through a kinase-dependent mechanism.
25500533 2014 Phosphorylation of LRRK2 by casein kinase 1? regulates trans-Golgi clustering via differential interaction with ARHGEF7.
25487881 2015 Motor phenotype of LRRK2-associated Parkinson's disease: a Tunisian longitudinal study.
25446991 2015 Threonine 56 phosphorylation of Bcl-2 is required for LRRK2 G2019S-induced mitochondrial depolarization and autophagy.
25434972 2015 Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease.
25427558 2015 LRRK2 localizes to endosomes and interacts with clathrin-light chains to limit Rac1 activation.
25416817 2015 Dysregulation of lysosomal morphology by pathogenic LRRK2 is corrected by TPC2 inhibition.
25401981 2015 Higher frequency of certain cancers in LRRK2 G2019S mutation carriers with Parkinson disease: a pooled analysis.
25401511 2015 Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.
25394383 2015 The Upshot of LRRK2 Inhibition to Parkinson's Disease Paradigm.
25378673 2014 LRRK2 exonic variants and risk of multiple system atrophy.
25360523 2014 LRRK2 transport is regulated by its novel interacting partner Rab32.
25353650 2015 Discovery and preclinical profiling of 3-[4-(morpholin-4-yl)-7H-pyrrolo[2,3-d]pyrimidin-5-yl]benzonitrile (PF-06447475), a highly potent, selective, brain penetrant, and in vivo active LRRK2 kinase inhibitor.
25316291 2014 Increasing microtubule acetylation rescues axonal transport and locomotor deficits caused by LRRK2 Roc-COR domain mutations.
25301747 2015 Changes in actin dynamics and F-actin structure both in synaptoneurosomes of LRRK2(R1441G) mutant mice and in primary human fibroblasts of LRRK2(G2019S) mutation carriers.
25243190 2014 LRRK2 G2385R and R1628P mutations are associated with an increased risk of Parkinson's disease in the Malaysian population.
25228699 2014 Unique functional and structural properties of the LRRK2 protein ATP-binding pocket.
25201882 2014 Leucine-rich repeat kinase 2 regulates Sec16A at ER exit sites to allow ER-Golgi export.
25174890 2014 Conditional expression of Parkinson's disease-related R1441C LRRK2 in midbrain dopaminergic neurons of mice causes nuclear abnormalities without neurodegeneration.
25127457 2014 Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in LRRK2.
25107341 2014 Genetic and pharmacological evidence that G2019S LRRK2 confers a hyperkinetic phenotype, resistant to motor decline associated with aging.
25080504 2014 LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity.
25064009 2014 Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
25062988 2015 Non-motor symptoms in Chinese Parkinson's disease patients with and without LRRK2 G2385R and R1628P variants.
25048644 2014 LRRK2-G2019S mutation is not associated with an increased cancer risk: a kin-cohort study.
25027012 2014 The association between the LRRK2 G2385R variant and the risk of Parkinson's disease: a meta-analysis based on 23 case-control studies.
25017139 2014 G2019S LRRK2 mutant fibroblasts from Parkinson's disease patients show increased sensitivity to neurotoxin 1-methyl-4-phenylpyridinium dependent of autophagy.
25009464 2014 LRRK2 kinase activity and biology are not uniformly predicted by its autophosphorylation and cellular phosphorylation site status.
25008396 2014 LRRK2 parkinsonism in Tunisia and Norway: a comparative analysis of disease penetrance.
25000966 2014 Behavioral deficits and striatal DA signaling in LRRK2 p.G2019S transgenic rats: a multimodal investigation including PET neuroimaging.
24997548 2014 Confirmation of the association between LRRK2 R1628P variant and susceptibility to Parkinson's disease in the Thai population.
24973808 2014 Identification of a Japanese family with LRRK2 p.R1441G-related Parkinson's disease.
24957201 2014 Heterogeneity of leucine-rich repeat kinase 2 mutations: genetics, mechanisms and therapeutic implications.
24947832 2014 Differential protein-protein interactions of LRRK1 and LRRK2 indicate roles in distinct cellular signaling pathways.
24942733 2014 Arsenite stress down-regulates phosphorylation and 14-3-3 binding of leucine-rich repeat kinase 2 (LRRK2), promoting self-association and cellular redistribution.
24916379 2014 Genetic dissection reveals that Akt is the critical kinase downstream of LRRK2 to phosphorylate and inhibit FOXO1, and promotes neuron survival.
24904275 2014 LRRK2 kinase activity regulates synaptic vesicle trafficking and neurotransmitter release through modulation of LRRK2 macro-molecular complex.
24903616 2014 Motor progression of Parkinson's disease with the leucine-rich repeat kinase 2 G2019S mutation.
24863511 2014 Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson's disease.
24849765 2015 High-Resolution Melting Analysis as a Developed Method for Genotyping the PD Susceptibility Loci in LRRK2 Gene.
24842889 2014 Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
24836358 2014 Lack of correlation between the kinase activity of LRRK2 harboring kinase-modifying mutations and its phosphorylation at Ser910, 935, and Ser955.
24830390 2014 (G2019S) LRRK2 causes early-phase dysfunction of SNpc dopaminergic neurons and impairment of corticostriatal long-term depression in the PD transgenic mouse.
24816003 2014 LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population.
24794857 2014 A Parkinson's disease gene regulatory network identifies the signaling protein RGS2 as a modulator of LRRK2 activity and neuronal toxicity.
24788225 2015 The role of LRRK2 in the regulation of monocyte adhesion to endothelial cells.
24777780 2014 The genetic contributions of SNCA and LRRK2 genes to Lewy Body pathology in Alzheimer's disease.
24758914 2014 The screening of the 3'UTR sequence of LRRK2 identified an association between the rs66737902 polymorphism and Parkinson's disease.
24754922 2014 MAP1B rescues LRRK2 mutant-mediated cytotoxicity.
24729340 2014 Low prevalence of most frequent pathogenic variants of six PARK genes in sporadic Parkinson's disease.
24725412 2014 Ribosomal protein s15 phosphorylation mediates LRRK2 neurodegeneration in Parkinson's disease.
24695735 2014 The Parkinson disease-linked LRRK2 protein mutation I2020T stabilizes an active state conformation leading to increased kinase activity.
24687852 2014 Leucine-rich repeat kinase 2 binds to neuronal vesicles through protein interactions mediated by its C-terminal WD40 domain.
24652679 2014 Changes in matrix metalloprotease activity and progranulin levels may contribute to the pathophysiological function of mutant leucine-rich repeat kinase 2.
24633735 2014 Differential LRRK2 expression in the cortex, striatum, and substantia nigra in transgenic and nontransgenic rodents.
24631561 2014 No association between genetic variants of the LRRK2 gene and schizophrenia in Han Chinese.
24591621 2014 Parkinson disease-associated mutation R1441H in LRRK2 prolongs the "active state" of its GTPase domain.
24576675 2014 LRRK2, but not pathogenic mutants, protects against H2O2 stress depending on mitochondrial function and endocytosis in a yeast model.
24559644 2014 MAPT IVS1+124 C>G modifies risk of LRRK2 G2385R for Parkinson's disease in Chinese individuals.
24510904 2014 Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease.
24482120 2014 A voxel-based morphometry and diffusion tensor imaging analysis of asymptomatic Parkinson's disease-related G2019S LRRK2 mutation carriers.
24470158 2014 Prediction of the repeat domain structures and impact of parkinsonism-associated variations on structure and function of all functional domains of leucine-rich repeat kinase 2 (LRRK2).
24464040 2014 LRRK2 regulates synaptogenesis and dopamine receptor activation through modulation of PKA activity.
24459295 2014 Thiol peroxidases ameliorate LRRK2 mutant-induced mitochondrial and dopaminergic neuronal degeneration in Drosophila.
24403142 2014 Mutant LRRK2 toxicity in neurons depends on LRRK2 levels and synuclein but not kinase activity or inclusion bodies.
24398085 2014 Methylation of ?-synuclein and leucine-rich repeat kinase 2 in leukocyte DNA of Parkinson's disease patients.
24375786 2014 Evidence that the LRRK2 ROC domain Parkinson's disease-associated mutants A1442P and R1441C exhibit increased intracellular degradation.
24360742 2014 Leucine-rich repeat kinase 2 modulates cyclooxygenase 2 and the inflammatory response in idiopathic and genetic Parkinson's disease.
24357540 2014 Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2.
24351927 2014 Parkinson-related LRRK2 mutation R1441C/G/H impairs PKA phosphorylation of LRRK2 and disrupts its interaction with 14-3-3.
24339985 2013 Genetic variants ofLRRK2 in Taiwanese Parkinson's disease.
24326068 2014 Characterization of NAADP-mediated calcium signaling in human spermatozoa.
24282027 2014 Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamily.
24275654 2014 A direct interaction between leucine-rich repeat kinase 2 and specific ?-tubulin isoforms regulates tubulin acetylation.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24262189 2014 Genetic testing of LRRK2 in Parkinson's disease: is there a clinical role?
24252804 2013 The role of oxidative stress in Parkinson's disease.
24251413 2014 Does uncoupling protein 2 expression qualify as marker of disease status in LRRK2-associated Parkinson's disease?
24243757 2013 Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.
24211199 2013 Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation.
24167564 2013 LRRK2 affects vesicle trafficking, neurotransmitter extracellular level and membrane receptor localization.
24165324 2014 Leucine-rich repeat kinase 2 regulates tau phosphorylation through direct activation of glycogen synthase kinase-3?.
24148854 2014 LRRK2 mutations cause mitochondrial DNA damage in iPSC-derived neural cells from Parkinson's disease patients: reversal by gene correction.
24123150 2013 Fall risk and gait in Parkinson's disease: the role of the LRRK2 G2019S mutation.
24115276 2014 The regulation and deregulation of Wnt signaling by PARK genes in health and disease.
24113872 2013 LRRK2 phosphorylates novel tau epitopes and promotes tauopathy.
24095219 2014 Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals.
24080176 2014 No association of the LRRK2 genetic variants with Alzheimer's disease in Han Chinese individuals.
24046064 2013 LRRK2 G2385R variant carriers of female Parkinson's disease are more susceptible to motor fluctuation.
24040382 2013 Patterns of linkage disequilibrium of LRRK2 across different races: implications for genetic association studies.
24018986 2013 Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications.
24015287 2013 LRRK2 and RIPK2 variants in the NOD 2-mediated signaling pathway are associated with susceptibility to Mycobacterium leprae in Indian populations.
24014121 2013 Patient-control association study of the Leucine-Rich repeat kinase 2 (LRRK2) gene in South African Parkinson's disease patients.
23967090 2013 Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus.
23963289 2014 Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population.
23949442 2013 LRRK2 phosphorylates Snapin and inhibits interaction of Snapin with SNAP-25.
23938341 2013 LRRK2: cause, risk, and mechanism.
23937295 2014 Olfactory dysfunction in sporadic Parkinson's Disease and LRRK2 carriers.
23937259 2013 Identification of protein phosphatase 1 as a regulator of the LRRK2 phosphorylation cycle.
23932063 2013 The LRRK2 G2019S mutation status does not affect the outcome of subthalamic stimulation in patients with Parkinson's disease.
23924436 2013 Differential effects of familial parkinson mutations in LRRK2 revealed by a systematic analysis of autophosphorylation.
23916833 2013 Inhibition of LRRK2 kinase activity stimulates macroautophagy.
23913756 2013 Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.
23895867 2013 Choreo-athetosis in LRRK2 R1441C mutation: expanding the clinical phenotype.
23886663 2013 LRRK2 secretion in exosomes is regulated by 14-3-3.
23842774 2013 New mutations causing familial parkinsonism.
23824357 2013 The common PARK8 mutation LRRK2G²?¹?S is not a risk factor for breast cancer in the absence of Parkinson's disease.
23820587 2013 Alzheimer's disease and Parkinson's disease genome-wide association study top hits and risk of Parkinson's disease in Korean population.
23813973 2013 Inhibition of excessive mitochondrial fission reduced aberrant autophagy and neuronal damage caused by LRRK2 G2019S mutation.
23776530 2013 A method for WD40 repeat detection and secondary structure prediction.
23771111 2013 Lack of association between the LRRK2 A419V variant and Asian Parkinson's disease.
23764467 2013 Autonomic dysfunction in parkinsonian LRRK2 mutation carriers.
23726462 2013 Comprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants.
23664753 2013 TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT.
23628791 2013 Down-regulation of LRRK2 in control and DAT transfected HEK cells increases manganese-induced oxidative stress and cell toxicity.
23624603 2013 Association between G2385R and R1628P polymorphism of LRRK2 gene and sporadic Parkinson's disease in a Han-Chinese population in south-eastern China.
23588498 2013 C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex.
23531835 2013 Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients.
23507417 2013 Genetic susceptibility loci, environmental exposures, and Parkinson's disease: a case-control study of gene-environment interactions.
23472874 2013 Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression.
23455607 2013 Interplay of LRRK2 with chaperone-mediated autophagy.
23421816 2013 The LRRK2 R1628P variant plays a protective role in Han Chinese population with Alzheimer's disease.
23395371 2013 RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk.
23389884 2013 Novel Lrrk2-p.S1761R mutation is not a common cause of Parkinson's disease in Spain.
23379419 2013 Type II kinase inhibitors show an unexpected inhibition mode against Parkinson's disease-linked LRRK2 mutant G2019S.
23357204 2013 Neural correlates of executive functions in healthy G2019S LRRK2 mutation carriers.
23325906 2013 Olfaction and imaging biomarkers in premotor LRRK2 G2019S-associated Parkinson disease.
23318930 2013 Leucine-rich repeat kinase 2 functionally interacts with microtubules and kinase-dependently modulates cell migration.
23300640 2012 ?lpha-synuclein levels in blood plasma from LRRK2 mutation carriers.
23268655 2013 The LRRK2 gene is mutated in a Chinese autosomal-dominant Parkinson's disease family.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23250886 2012 Cerebral pathological and compensatory mechanisms in the premotor phase of leucine-rich repeat kinase 2 parkinsonism.
23241745 2012 Ser1292 autophosphorylation is an indicator of LRRK2 kinase activity and contributes to the cellular effects of PD mutations.
23241358 2013 GTPase activity regulates kinase activity and cellular phenotypes of Parkinson's disease-associated LRRK2.
23227859 2013 A case of restless leg syndrome in a family with LRRK2 gene mutation.
23220480 2013 Dominant-negative effects of LRRK2 heterodimers: a possible mechanism of neurodegeneration in Parkinson's disease caused by LRRK2 I2020T mutation.
23183827 2013 LRRK2 interactions with ?-synuclein in Parkinson's disease brains and in cell models.
23182315 2013 Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility: a replication study in a Taiwanese cohort.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
23125283 2013 MicroRNA-205 regulates the expression of Parkinson's disease-related leucine-rich repeat kinase 2 protein.
23115130 2012 Common variation in the LRRK2 gene is a risk factor for Parkinson's disease.
23082216 2012 Phosphorylation of 4E-BP1 in the mammalian brain is not altered by LRRK2 expression or pathogenic mutations.
23075850 2012 Progressive degeneration of human neural stem cells caused by pathogenic LRRK2.
23074843 2012 [The absence of the common LRRK2 G2019S mutation in 120 young onset Hungarian Parkinon's disease patients].
23055502 2012 AMP kinase activation mitigates dopaminergic dysfunction and mitochondrial abnormalities in Drosophila models of Parkinson's disease.
22998870 2012 LRRK2 controls an EndoA phosphorylation cycle in synaptic endocytosis.
22988882 2012 Pharmacological inhibition of LRRK2 cellular phosphorylation sites provides insight into LRRK2 biology.
22988880 2012 LRRK2 and autophagy: a common pathway for disease.
22988879 2012 A link between LRRK2, autophagy and NAADP-mediated endolysosomal calcium signalling.
22988878 2012 An emerging role for LRRK2 in the immune system.
22988877 2012 Possible involvement of the relationship of LRRK2 and autophagy in Parkinson's disease.
22988876 2012 The importance of Wnt signalling for neurodegeneration in Parkinson's disease.
22988875 2012 LRRK2 and vesicle trafficking.
22988874 2012 Presynaptic dysfunction in Parkinson's disease: a focus on LRRK2.
22988873 2012 Phosphorylation of LRRK2: from kinase to substrate.
22988872 2012 Human leucine-rich repeat kinase 1 and 2: intersecting or unrelated functions?
22988870 2012 Analysis of LRRK2 accessory repeat domains: prediction of repeat length, number and sites of Parkinson's disease mutations.
22988868 2012 LRRK2 GTPase dysfunction in the pathogenesis of Parkinson's disease.
22988867 2012 Cellular effects of LRRK2 mutations.
22988866 2012 The GTPase function of LRRK2.
22988865 2012 Role of LRRK2 kinase activity in the pathogenesis of Parkinson's disease.
22988863 2012 The synaptic function of LRRK2.
22988862 2012 Genetic analysis of Parkinson's disease-linked leucine-rich repeat kinase 2.
22988861 2012 Deciphering the function of leucine-rich repeat kinase 2 and targeting its dysfunction in disease.
22981185 2013 LRRK2 G2385R and LRRK2 R1628P increase risk of Parkinson's disease in a Han Chinese population from Southern Mainland China.
22956510 2012 Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
22952710 2012 Screening for novel LRRK2 inhibitors using a high-throughput TR-FRET cellular assay for LRRK2 Ser935 phosphorylation.
22952686 2012 Biochemical characterization of highly purified leucine-rich repeat kinases 1 and 2 demonstrates formation of homodimers.
22914834 2012 Lower cognitive performance in healthy G2019S LRRK2 mutation carriers.
22914360 2012 The MAPK1/3 pathway is essential for the deregulation of autophagy observed in G2019S LRRK2 mutant fibroblasts.
22899650 2012 LRRK2 functions as a Wnt signaling scaffold, bridging cytosolic proteins and membrane-localized LRP6.
22842796 2012 Correlation between LRRK2 gene G2385R polymorphisms and Parkinson's disease.
22807999 2012 LRRK2 A419V is not associated with Parkinson's disease in different Chinese populations.
22773119 2013 The LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway.
22764206 2012 Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease.
22736029 2012 G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization.
22703868 2012 Dyskinesias in patients with Parkinson's disease: effect of the leucine-rich repeat kinase 2 (LRRK2) G2019S mutation.
22689969 2012 Roco kinase structures give insights into the mechanism of Parkinson disease-related leucine-rich-repeat kinase 2 mutations.
22684232 2012 Evaluation of the role of LRRK2 gene in Parkinson's disease in an East Indian cohort.
22669510 2012 Age at onset in LRRK2-associated PD is modified by SNCA variants.
22664934 2012 Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach.
22658533 2012 Penetrance of LRRK2 G2385R and R1628P is modified by common PD-associated genetic variants.
22652643 2012 GST P1, a novel downstream regulator of LRRK2, G2019S-induced neuronal cell death.
22639965 2012 Leucine-rich repeat kinase 2 disturbs mitochondrial dynamics via Dynamin-like protein.
22612223 2012 The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson's disease is a partial loss-of-function mutation.
22607035 2012 Pyrazolopyridines as inhibitors of the kinase LRRK2: a patent evaluation (WO2011141756).
22594666 2012 Parkinson's disease and immune system: is the culprit LRRKing in the periphery?
22575234 2012 Quantitative assessment of the effect of LRRK2 exonic variants on the risk of Parkinson's disease: a meta-analysis.
22575062 2012 Association of Parkinson's disease with six single nucleotide polymorphisms located in four PARK genes in the northern Han Chinese population.
22567899 2012 [Apoptosis of peripheral blood lymphocytes in patients with LRRK2-assoctated Parkinson's disease].
22534020 2012 The I2020T Leucine-rich repeat kinase 2 transgenic mouse exhibits impaired locomotive ability accompanied by dopaminergic neuron abnormalities.
22528366 2012 Leucine-rich repeat kinase 2 and alternative splicing in Parkinson's disease.
22525366 2012 LRRK2 I2020T mutation is associated with tau pathology.
22503729 2012 Mutation analysis of LRRK2, SCNA, UCHL1, HtrA2 and GIGYF2 genes in Chinese patients with autosomal dorminant Parkinson's disease.
22488887 2012 Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease.
22486164 2012 Kinase signaling dysfunction in Parkinson's disease: a reverse genetic approach in Drosophila.
22445250 2012 Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease.
22441981 2012 Mechanisms of LRRK2-mediated neurodegeneration.
22438815 2012 Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
22436655 2012 The SNCA (A53T, A30P, E46K) and LRRK2 (G2019S) mutations are rare cause of Parkinson's disease in South Indian patients.
22433811 2011 [Clinical features of LRRK2-associated Parkinson's disease].
22423108 2012 ArfGAP1 is a GTPase activating protein for LRRK2: reciprocal regulation of ArfGAP1 by LRRK2.
22418733 2012 Genetic analysis of LRRK2 A419V variant in ethnic Chinese.
22415848 2012 Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.
22393539 2012 Leucine-rich repeat kinase 2 for beginners: six key questions.
22363216 2012 GTPase activity and neuronal toxicity of Parkinson's disease-associated LRRK2 is regulated by ArfGAP1.
22357653 2012 Neurodegenerative phenotypes in an A53T ?-synuclein transgenic mouse model are independent of LRRK2.
22342962 2012 Parkinson's disease-linked leucine-rich repeat kinase 2(R1441G) mutation increases proinflammatory cytokine release from activated primary microglial cells and resultant neurotoxicity.
22323743 2012 The LRRK2 G2019S mutation is associated with Parkinson disease and concomitant non-skin cancers.
22315971 2012 Redox proteomics analyses of the influence of co-expression of wild-type or mutated LRRK2 and Tau on C. elegans protein expression and oxidative modification: relevance to Parkinson disease.
22303461 2012 LRRK2 phosphorylates tubulin-associated tau but not the free molecule: LRRK2-mediated regulation of the tau-tubulin association and neurite outgrowth.
22302802 2012 LRRK2 inhibition attenuates microglial inflammatory responses.
22253261 2012 LRRK2 and human disease: a complicated question or a question of complexes?
22251894 2012 Expression, purification and preliminary biochemical and structural characterization of the leucine rich repeat namesake domain of leucine rich repeat kinase 2.
22243833 2012 A DNA resequencing array for genes involved in Parkinson's disease.
22228096 2012 LRRK2 regulates mitochondrial dynamics and function through direct interaction with DLP1.
22204929 2012 Regulation of physiologic actions of LRRK2: focus on autophagy.
22166428 2012 Genetic mouse models for understanding LRRK2 biology, pathology and pre-clinical application.
22162019 2012 A Korean Parkinson's disease family with the LRRK2 p.Tyr1699Cys mutation showing clinical heterogeneity.
22080837 2012 LRRK2 Parkinson disease mutations enhance its microtubule association.
22077787 2011 Leucine-rich repeat kinase 2 (LRRK2) cellular biology: a review of recent advances in identifying physiological substrates and cellular functions.
22056842 2012 Cognitive dysfunction in Tunisian LRRK2 associated Parkinson's disease.
22047502 2012 Re-examination of the dimerization state of leucine-rich repeat kinase 2: predominance of the monomeric form.
22038903 2012 LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.
22012985 2012 Leucine-rich repeat kinase 2 regulates autophagy through a calcium-dependent pathway involving NAADP.
22004453 2012 Phosphorylation of LRRK2 serines 955 and 973 is disrupted by Parkinson's disease mutations and LRRK2 pharmacological inhibition.
21989859 2011 Clinical and brain imaging characteristics in leucine-rich repeat kinase 2-associated PD and asymptomatic mutation carriers.
21983832 2011 The kinase LRRK2 is a regulator of the transcription factor NFAT that modulates the severity of inflammatory bowel disease.
21972245 2012 Transcriptional responses to loss or gain of function of the leucine-rich repeat kinase 2 (LRRK2) gene uncover biological processes modulated by LRRK2 activity.
21961647 2011 Kinetic, mechanistic, and structural modeling studies of truncated wild-type leucine-rich repeat kinase 2 and the G2019S mutant.
21954089 2011 High frequency and reduced penetrance of LRRK2 G2019S mutation among Parkinson's disease patients in Cantabria (Spain).
21924942 2012 Brain-derived neurotrophic factor (BDNF) genetic polymorphism greatly increases risk of leucine-rich repeat kinase 2 (LRRK2) for Parkinson's disease.
21922152 2012 Association between LRRK2 and 4E-BP1 protein levels in normal and malignant cells.
21898123 2012 The age at motor symptoms onset in LRRK2-associated Parkinson's disease is affected by a variation in the MAPT locus: a possible interaction.
21885347 2011 Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.
21858031 2011 LRRK2 kinase activity is dependent on LRRK2 GTP binding capacity but independent of LRRK2 GTP binding.
21857923 2011 Dysregulated LRRK2 signaling in response to endoplasmic reticulum stress leads to dopaminergic neuron degeneration in C. elegans.
21850687 2011 Mutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death.
21842440 2012 Screening LRRK2 gene mutations in patients with Parkinson's disease in Ghana.
21816655 2011 Do interactions between SNCA, MAPT, and LRRK2 genes contribute to Parkinson's disease susceptibility?
21806997 2011 Autophosphorylation in the leucine-rich repeat kinase 2 (LRRK2) GTPase domain modifies kinase and GTP-binding activities.
21799870 2011 Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.
21796139 2011 Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease.
21753163 2011 Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers.
21753159 2011 Olfactory dysfunction in LRRK2 G2019S mutation carriers.
21749573 2011 Death-associated protein kinase 1 variation and Parkinson's disease.
21738687 2011 Regulation of LRRK2 expression points to a functional role in human monocyte maturation.
21738487 2011 Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
21720016 2011 ?-Synuclein aggregation and transmission are enhanced by leucine-rich repeat kinase 2 in human neuroblastoma SH-SY5Y cells.
21714003 2011 Kin-cohort analysis of LRRK2-G2019S penetrance in Parkinson's disease.
21699405 2011 G2019S mutation of the leucine-rich repeat kinase 2 gene in a cohort of Egyptian patients with Parkinson's disease.
21698001 2011 Temporal expression of mutant LRRK2 in adult rats impairs dopamine reuptake.
21696411 2011 LRRK2 expression in idiopathic and G2019S positive Parkinson's disease subjects: a morphological and quantitative study.
21679126 2011 LRRK2 Parkinson's disease: from animal models to cellular mechanisms.
21676337 2011 Role of LRRK2 kinase dysfunction in Parkinson disease.
21661047 2011 Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease.
21658387 2011 LRRK2 directly phosphorylates Akt1 as a possible physiological substrate: impairment of the kinase activity by Parkinson's disease-associated mutations.
21641848 2011 Subclinical signs in LRRK2 mutation carriers.
21641266 2011 Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease.
21632271 2011 Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America.
21611983 2011 Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations.
21611978 2011 Mood and cognition in leucine-rich repeat kinase 2 G2019S Parkinson's disease.
21563316 2012 Synaptic vesicle trafficking and Parkinson's disease.
21552986 2011 Parkinson's disease-linked LRRK2 is expressed in circulating and tissue immune cells and upregulated following recognition of microbial structures.
21538529 2011 The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.
21494637 2011 Dopaminergic neuronal loss, reduced neurite complexity and autophagic abnormalities in transgenic mice expressing G2019S mutant LRRK2.
21483109 LRRK2 G2019S mutation does not contribute to Parkinson's disease in South India.
21454543 2011 Rac1 protein rescues neurite retraction caused by G2019S leucine-rich repeat kinase 2 (LRRK2).
21449009 2011 LRRK2 G2019S mutations may be increased in Puerto Ricans.
21406209 2011 LRRK2 Pro755Leu variant in ethnic Chinese population with Parkinson's disease.
21370995 2011 Expression of leucine-rich repeat kinase 2 (LRRK2) inhibits the processing of uMtCK to induce cell death in a cell culture model system.
21362567 2011 LRRK2 mutant iPSC-derived DA neurons demonstrate increased susceptibility to oxidative stress.
21353620 2011 The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders.
21312285 2011 Substantia nigra hyperechogenicity with LRRK2 G2019S mutations.
21307259 2011 LRRK2 controls synaptic vesicle storage and mobilization within the recycling pool.
21292315 2011 Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
21280089 2011 Gait alterations in healthy carriers of the LRRK2 G2019S mutation.
21248752 2011 Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
21238487 2011 ?-Synuclein, leucine-rich repeat kinase-2, and manganese in the pathogenesis of Parkinson disease.
21234781 2011 A study of six point mutation analysis of LRRK2 gene in Chinese mainland patients with Parkinson's disease.
21221623 2011 123I-MIBG cardiac uptake and smell identification in parkinsonian patients with LRRK2 mutations.
21220347 2011 Chromosomal amplification of leucine-rich repeat kinase-2 (LRRK2) is required for oncogenic MET signaling in papillary renal and thyroid carcinomas.
21168496 2011 Adult neurogenesis and neurite outgrowth are impaired in LRRK2 G2019S mice.
21167764 2011 Lrrk2 S1647T and BDNF V66M interact with environmental factors to increase risk of Parkinson's disease.
21159966 2010 LRRK2 kinase regulates synaptic morphology through distinct substrates at the presynaptic and postsynaptic compartments of the Drosophila neuromuscular junction.
21159540 2011 LRRK2 R1398H polymorphism is associated with decreased risk of Parkinson's disease in a Han Chinese population.
21115957 2010 Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2.
21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
21088684 2010 The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease.
21073465 2011 Insight into the mode of action of the LRRK2 Y1699C pathogenic mutant.
21072187 2010 Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis.
21060682 2010 Identification and characterization of a leucine-rich repeat kinase 2 (LRRK2) consensus phosphorylation motif.
21048939 2010 ARHGEF7 (Beta-PIX) acts as guanine nucleotide exchange factor for leucine-rich repeat kinase 2.
20969957 2011 Synaptic dysfunction in genetic models of Parkinson's disease: a role for autophagy?
20949042 2010 Signal transduction protein array analysis links LRRK2 to Ste20 kinases and PKC zeta that modulate neuronal plasticity.
20939082 2010 Dopamine turnover increases in asymptomatic LRRK2 mutations carriers.
20933457 2010 LRRK2 G2019S mutation in Parkinson's disease: a neuropsychological and neuropsychiatric study in a large Algerian cohort.
20921534 2010 LRRK2 is involved in the IFN-gamma response and host response to pathogens.
20881132 2010 LRRK2 G2019S mutation induces dendrite degeneration through mislocalization and phosphorylation of tau by recruiting autoactivated GSK3ß.
20850369 2010 A comparative study of Lrrk2 function in primary neuronal cultures.
20818658 2010 Olfactory heterogeneity in LRRK2 related Parkinsonism.
20818610 2010 LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson disease.
20729864 2010 Inhibitors of leucine-rich repeat kinase-2 protect against models of Parkinson's disease.
20727385 2010 Low frequency of common LRRK2 mutations in Mexican patients with Parkinson's disease.
20722494 2010 Absence of commonly reported leucine-rich repeat kinase 2 mutations in Eastern Indian Parkinson's disease patients.
20721916 2010 Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).
20721913 2010 Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa.
20721910 2010 Clinical expression of LRRK2 G2019S mutations in the elderly.
20720502 2010 Leucine-rich repeat kinase 2 is associated with the endoplasmic reticulum in dopaminergic neurons and accumulates in the core of Lewy bodies in Parkinson disease.
20711177 2010 Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.
20697102 2010 Analysis of GWAS-linked loci in Parkinson disease reaffirms PARK16 as a susceptibility locus.
20673920 2010 LRRK2 Gly2385Arg polymorphism, cigarette smoking, and risk of sporadic Parkinson's disease: a case-control study in Japan.
20671708 2010 Pathogenic LRRK2 negatively regulates microRNA-mediated translational repression.
20669305 2010 Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.
20669299 2010 LRRK2 variation and Parkinson's disease in African Americans.
20659558 2010 Impaired dopaminergic neurotransmission and microtubule-associated protein tau alterations in human LRRK2 transgenic mice.
20642453 2010 14-3-3 binding to LRRK2 is disrupted by multiple Parkinson's disease-associated mutations and regulates cytoplasmic localization.
20629711 2011 Confirmation of LRRK2 S1647T variant as a risk factor for Parkinson's disease in southern China.
20626563 2010 The G2019S pathogenic mutation disrupts sensitivity of leucine-rich repeat kinase 2 to manganese kinase inhibition.
20595391 2010 Reevaluation of phosphorylation sites in the Parkinson disease-associated leucine-rich repeat kinase 2.
20571044 2011 Frequencies of LRRK2 variants in Thai patients with Parkinson's disease: evidence for an R1628P founder.
20544233 2010 LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson's disease patients.
20515039 2010 Membrane localization of LRRK2 is associated with increased formation of the highly active LRRK2 dimer and changes in its phosphorylation.
20506312 2010 Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
20483373 2010 Structural imaging in the presymptomatic stage of genetically determined parkinsonism.
20473834 2010 [Genetic screening for the LRRK2, G2019S and R1441 codon mutations in Parkinson's disease patients from Extremadura, Spain].
20443975 2010 Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson's disease.
20413974 2010 LRRK2 G2019S in the North African population: a review.
20386743 2010 GTPase activity plays a key role in the pathobiology of LRRK2.
20382224 2010 LRRK2-mediated neurodegeneration and dysfunction of dopaminergic neurons in a Caenorhabditis elegans model of Parkinson's disease.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20232069 2010 Involvement of the cerebral cortex in Parkinson disease linked with G2019S LRRK2 mutation without cognitive impairment.
20197701 2010 Leucine-rich repeat kinase 2 gene-associated disease: redefining genotype-phenotype correlation.
20197411 2010 Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.
20186690 2010 Multiple LRRK2 variants modulate risk of Parkinson disease: a Chinese multicenter study.
20182943 2010 Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease.
20173330 2010 LRRK2 and the stress response: interaction with MKKs and JNK-interacting proteins.
20144646 2010 Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease.
20108944 2010 Phosphopeptide analysis reveals two discrete clusters of phosphorylation in the N-terminus and the Roc domain of the Parkinson-disease associated protein kinase LRRK2.
20096956 2011 Transcriptional profile of Parkinson blood mononuclear cells with LRRK2 mutation.
20090955 2010 The Parkinson's disease associated LRRK2 exhibits weaker in vitro phosphorylation of 4E-BP compared to autophosphorylation.
20074637 2010 Leucine-rich repeat kinase 2 induces alpha-synuclein expression via the extracellular signal-regulated kinase pathway.
20067578 2010 MKK6 binds and regulates expression of Parkinson's disease-related protein LRRK2.
20018961 2009 Genomewide association study of leprosy.
20018409 2011 LRRK2 variant associated with Alzheimer's disease.
20008657 2009 Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease.
20004703 2010 Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China.
20001906 2009 The small GTPase activity of the ROC domain from LRRK2, a Parkinson's disease related protein.
19945904 2010 Worldwide frequency of G2019S LRRK2 mutation in Parkinson's disease: a systematic review.
19915576 2009 Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.
19915575 2009 Genome-wide association study reveals genetic risk underlying Parkinson's disease.
19912990 2010 Prevention of intracellular degradation of I2020T mutant LRRK2 restores its protectivity against apoptosis.
19890007 2009 Phosphorylation of ezrin/radixin/moesin proteins by LRRK2 promotes the rearrangement of actin cytoskeleton in neuronal morphogenesis.
19879329 2010 A novel LRRK2 mutation in a mainland Chinese patient with familial Parkinson's disease.
19878656 2009 Lrrk2 interaction with alpha-synuclein in diffuse Lewy body disease.
19854095 2010 The LRRK2 G2385R variant is a risk factor for sporadic Parkinson's disease in the Korean population.
19847307 2009 Metabolomic profiling in LRRK2-related Parkinson's disease.
19833102 2009 I(2020)T leucine-rich repeat kinase 2, the causative mutant molecule of familial Parkinson's disease, has a higher intracellular degradation rate than the wild-type molecule.
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19824698 2009 Identification of the autophosphorylation sites of LRRK2.
19822953 2009 LRRK2 p.G2019S mutation is not common among Alzheimer's disease patients in Brazil.
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19800393 2009 Identification of four novel potentially Parkinson's disease associated LRRK2 variations among Iranian patients.
19770575 2009 Parkinson disease, LRRK2 and the endocytic-autophagic pathway.
19769964 2010 LRRK2 enhances oxidative stress-induced neurotoxicity via its kinase activity.
19760754 2010 Analysis of 39 Crohn's disease risk loci in Swedish inflammatory bowel disease patients.
19756366 2009 The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews.
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19733152 2009 The Parkinson's disease kinase LRRK2 autophosphorylates its GTPase domain at multiple sites.
19726410 2010 A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease.
19714762 2010 Detailed haplotype-tagging study of germline variation of MUC19 in inflammatory bowel disease.
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19699188 2009 LRRK2 R1628P contributes to Parkinson's disease susceptibility in Chinese Han populations from mainland China.
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19680143 2009 Abnormal localization of leucine-rich repeat kinase 2 to the endosomal-lysosomal compartment in lewy body disease.
19672984 2009 LRRK2 R1628P variant is a risk factor of Parkinson's disease among Han-Chinese from mainland China.
19640926 2009 LRRK2 regulates autophagic activity and localizes to specific membrane microdomains in a novel human genomic reporter cellular model.
19640773 2010 Analysis of the LRRK2 Gly2385Arg variant in Alzheimer's disease in Taiwan.
19625511 2009 LRRK2 modulates vulnerability to mitochondrial dysfunction in Caenorhabditis elegans.
19625296 2009 Mutations in the LRRK2 Roc-COR tandem domain link Parkinson's disease to Wnt signalling pathways.
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19536328 2009 Regulation of LRRK2 stability by the E3 ubiquitin ligase CHIP.
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19513331 2009 The G2019S LRRK2 Mutation is Rare in Korean Patients with Parkinson's Disease and Multiple System Atrophy.
19489756 2009 Parkinson's disease and low frequency alleles found together throughout LRRK2.
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19472409 2009 LRRK2 gene variation and its contribution to Parkinson disease.
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19330201 2009 Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes.
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19302196 2009 The Parkinson disease-associated protein kinase LRRK2 exhibits MAPKKK activity and phosphorylates MKK3/6 and MKK4/7, in vitro.
19283415 2009 Ashkenazi Parkinson's disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries.
19224617 2009 Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease?
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19204172 2009 No TARDBP mutations in a French Canadian population of patients with Parkinson disease.
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19176810 2009 The Parkinson disease protein leucine-rich repeat kinase 2 transduces death signals via Fas-associated protein with death domain and caspase-8 in a cellular model of neurodegeneration.
19172321 2009 A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype.
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19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
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19025767 2009 Leucine-rich repeat kinase 2 (LRRK2): a key player in the pathogenesis of Parkinson's disease.
19021752 2008 Emerging pathways in genetic Parkinson's disease: tangles, Lewy bodies and LRRK2.
19020907 2009 LRRK2 G2019S and R1441G mutations associated with Parkinson's disease are common in the Basque Country, but relative prevalence is determined by ethnicity.
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18986508 2008 The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.
18981379 2008 Is the common LRRK2 G2019S mutation related to dyskinesias in North African Parkinson disease?
18980856 2009 LRRK2 mutations in patients with Parkinson's disease from Peru and Uruguay.
18973807 2009 Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease.
18973254 2009 Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease.
18952485 2009 Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.
18936941 2008 LRRK2 and parkin immunoreactivity in multiple system atrophy inclusions.
18927607 2008 Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3.
18923807 2008 LRRK2 P755L variant in sporadic Parkinson's disease.
18848304 2008 LRRK2 mutations in Basque patients with Parkinson's disease.
18809839 2008 Hyposmia in G2019S LRRK2-related parkinsonism: clinical and pathologic data.
18805725 2009 Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients.
18804399 2009 Familial parkinsonism: study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes.
18781329 2008 LRRK2 R1628P increases risk of Parkinson's disease: replication evidence.
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18718805 2009 A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.
18716801 2008 The LRRK2 Arg1628Pro variant is a risk factor for Parkinson's disease in the Chinese population.
18704525 2008 Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease.
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18675914 2008 Wild-type LRRK2 but not its mutant attenuates stress-induced cell death via ERK pathway.
18666856 2008 Genetic screening of the G2019S mutation of the LRRK2 gene in Southwest European, North African, and Sephardic Jewish subjects.
18665323 2008 Clinical characteristics of Parkinson's disease among Jewish Ethnic groups in Israel.
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18621566 2009 Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy.
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18602856 2008 The biology and pathobiology of LRRK2: implications for Parkinson's disease.
18587394 2008 Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
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18539535 2008 LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study.
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18486522 2009 Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia.
18484993 2008 The prevalence of the G2019S and R1441C/G/H mutations in LRRK2 in German patients with Parkinson's disease.
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18450497 2008 Analysis of the LRRK2 Gly2385Arg variant in primary dystonia and multiple system atrophy in Taiwan.
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18397888 2008 The Parkinson disease-associated leucine-rich repeat kinase 2 (LRRK2) is a dimer that undergoes intramolecular autophosphorylation.
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18378882 2008 Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism.
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18353371 2008 Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degeneration.
18338801 2008 Molecular biology changes associated with LRRK2 mutations in Parkinson's disease.
18337586 2008 Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.
18322396 2008 Leucine-rich repeat kinase 2 colocalizes with alpha-synuclein in Parkinson's disease, but not tau-containing deposits in tauopathies.
18322385 2008 Investigating convergent actions of genes linked to familial Parkinson's disease.
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18272292 2008 Developmental regulation of leucine-rich repeat kinase 1 and 2 expression in the brain and other rodent and human organs: Implications for Parkinson's disease.
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18214993 2008 The Roc domain of leucine-rich repeat kinase 2 is sufficient for interaction with microtubules.
18213618 2008 Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.
18211709 2008 Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.
18201824 2008 A study of LRRK2 mutations and Parkinson's disease in Brazil.
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18197194 2008 Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients.
18182054 2008 Role of autophagy in G2019S-LRRK2-associated neurite shortening in differentiated SH-SY5Y cells.
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17978862 2009 Sequence conservation between porcine and human LRRK2.
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17971075 2008 LRRK2 is a component of granular alpha-synuclein pathology in the brainstem of Parkinson's disease.
17960808 2007 The prevalence of LRRK2 Gly2385Arg variant in Chinese Han population with Parkinson's disease.
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17880562 2007 The G2019S LRRK2 mutation is uncommon amongst Greek patients with sporadic Parkinson's disease.
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17846883 2007 No association between the LRRK2 G2019S mutation and Alzheimer's disease in Italy.
17804834 2007 LRRK2 mutation analysis in Parkinson disease families with evidence of linkage to PARK8.
17803033 2007 LRRK2 screening in a Canadian Parkinson's disease cohort.
17803032 2007 LRRK2 is not a significant cause of Parkinson's disease in French-Canadians.
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17706965 2007 The Parkinson's disease-associated protein, leucine-rich repeat kinase 2 (LRRK2), is an authentic GTPase that stimulates kinase activity.
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17639429 2007 Lrrk2 and chronic inflammation are linked to pallido-ponto-nigral degeneration caused by the N279K tau mutation.
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17622782 2007 Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation.
17614198 2007 Lrrk2 mutations in South America: A study of Chilean Parkinson's disease.
17611037 2007 A comparative analysis of leucine-rich repeat kinase 2 (Lrrk2) expression in mouse brain and Lewy body disease.
17596714 2007 Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease.
17584768 2007 Mechanistic insight into the dominant mode of the Parkinson's disease-associated G2019S LRRK2 mutation.
17540608 2007 Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain.
17523199 2007 A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.
17512502 2007 Localization of Parkinson's disease-associated LRRK2 in normal and pathological human brain.
17482357 2007 Genetic analysis of LRRK2 P755L variant in Caucasian patients with Parkinson's disease.
17470139 2007 LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease.
17469194 2007 High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal.
17447891 2007 LRRK2 phosphorylates moesin at threonine-558: characterization of how Parkinson's disease mutants affect kinase activity.
17442267 2007 The R1441C mutation of LRRK2 disrupts GTP hydrolysis.
17440812 2007 LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease.
17433753 2008 A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease.
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17400507 2007 Identification of potential protein interactors of Lrrk2.
17395370 2007 Independent occurrence of I2020T mutation in the kinase domain of the leucine rich repeat kinase 2 gene in Japanese and German Parkinson's disease families.
17394548 2007 Mutations in LRRK2/dardarin associated with Parkinson disease are more toxic than equivalent mutations in the homologous kinase LRRK1.
17388990 2007 A common leucine-rich repeat kinase 2 gene mutation in familial and sporadic Parkinson's disease in Russia.
17385669 2007 MAPK-pathway activity, Lrrk2 G2019S, and Parkinson's disease.
17377919 2007 Common variants in Parkinson's disease.
17353388 2007 LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.
17352347 2007 The G2019S LRRK2 mutation is rare in Korean patients with Parkinson's disease.
17344846 2007 Patterns of somatic mutation in human cancer genomes.
17341485 2007 Leucine-rich repeat kinase 2 associates with lipid rafts.
17335904 2007 Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson's disease.
17324517 2007 Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway.
17314670 2007 Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population.
17260967 2007 GTP binding is essential to the protein kinase activity of LRRK2, a causative gene product for familial Parkinson's disease.
17253937 2006 Genetic screening for two LRRK2 mutations in French patients with idiopathic Parkinson's disease.
17235449 2007 Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease.
17230458 2007 G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy.
17225181 2007 Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease.
17222580 2007 Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia.
17222106 2007 Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants.
17216639 2007 Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.
17215492 2007 Evaluation of LRRK2 G20