Property Summary

NCBI Gene PubMed Count 487
PubMed Score 2140.83
PubTator Score 1681.79

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis 2.000 1.1e-04

MLP Assay (7)

AID Type Active / Inconclusive / Inactive Description
1471 confirmatory 307 / 4910 / 221691 qHTS Multiplex Assay to Identify Dual Action Probes in a Cell Model of Huntington: Cytoprotection (ATP)
1482 summary 11 / 0 / 0 Quantitative High-Throughput Multiplex Assay to Identify Dual Action Probes in a Cell Model of Huntington: Summary
1688 confirmatory 2385 / 16315 / 202329 qHTS Multiplex Assay to Identify Dual Action Probes in a Cell Model of Huntington: Aggregate Formation (GFP)
2669 confirmatory 81 / 59 / 58 qHTS Assay Multiplex Screening to Identify Dual Action Probes in a Cell Model of Huntington: Cytoprotection (Protease relase)
2672 confirmatory 2 / 10 / 28 qHTS Assay Multiplex Screening to Identify Dual Action Probes in a Cell Model of Huntington: Cytoprotection in HTT Q25 expressing cells (ATP)
2673 confirmatory 25 / 23 / 89 qHTS Multiplex Assay to Identify Dual Action Probes in a Cell Model of Huntington: Cytoprotection confirmation (ATP)
2713 other 2 / 3 / 0 qHTS Multiplex Assay to Identify Dual Action Probes in a Cell Model of Huntington: Cytotoxicity in HTT Striatal Cells

Gene RIF (413)

PMID Text
27002149 Httex1 proteins with polyQ repeats of 7 or 15Q, even at high protein concentrations didn't form amyloid fibril.
26863614 RNAi silencing of both HTT alleles in neural stem cells from hESCs disrupted spindle orientation and mislocalized dynein, the p150Glued subunit of dynactin and the large NuMA protein. A 46-glutamine expansion was sufficient for a dominant-negative effect.
26808260 USP19_b up-regulates the protein levels of the polyglutamine (polyQ)-containing proteins, ataxin-3 (Atx3) and huntingtin (Htt), and thus promotes aggregation of their polyQ-expanded species in cell models
26652744 As the cholesterol content of the membrane increased, the extent of htt insertion decreased.
26586297 Data show that human transgenic mutant huntingtin (mHtt) aggregation might be regulated by multidrug resistance protein 1 (MDR1) which suggests that MDR1 might be a potential therapeutic target for Huntington's disease.
26540094 HDAC4 destabilizes MAP1S, suppresses autophagy flux and promotes the accumulation of mHTT aggregates.
26529236 Mutant Huntingtin Does Not Affect the Intrinsic Phenotype of Human Huntington's Disease T Lymphocytes
26496077 Alternative HTT splicing eventsin human control and patient post-mortem brains.
26450664 Findings indicate that mutant huntingtin (mHTT) aggregates can be transformed into benign species by isomerase FKBP12.
26369532 The Htt36Q (mutated) showed higher interaction than Htt17Q (native) with SH3GL3. This increased interaction is believed to form aggregates in the cytoplasm that might be a major trigger to cause Huntington's disorder.
26333261 In a Peruvian cohort of patients with late onset Huntington disease, significant correlation between age at onset and CAG repeats was not found.
26293574 HTT may inhibit breast tumor dissemination through maintenance of ZO1 at tight junctions. Downregulation of HTT transcript and protein levels is a prognostic factor for poor prognosis and metastasis development.
26264729 Huntingtin is an E2-inducible protein involved in the first steps of E2-induced signaling pathways committed to neuronal protection against oxidative stress.
26218986 Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65
26165689 findings support a role for HTT on dynamin 1 function and ER homoeostasis. Proteolysis-induced alteration of this function may be relevant to disease.
26106822 identified IKK-beta as a kinase capable of phosphorylating threonine 3 in N-terminal hungtingtin fragments
26020223 The polyQ domain of htt_ex1 forms the static amyloid core.
26010866 The discovery of this hominid-specific isoform may shed light on human-specific pathogenic mechanisms of HTT, which could not be investigated with current mouse models of the disease.
26001312 Studies indicate that mutant Huntingtin (HTT) is expressed in both neurons and glia in Huntington's disease.
25995452 CCT5 complex caps mutant mHTT fibrils at their tips and encapsulates mHTT oligomers, providing a structural description of the inhibition of mHTTQ46-Ex1 by CCT5 complex and a shared mechanism of mHTT inhibition between TRiC chaperonin and the CCT5 complex
25938884 Our findings suggest a previously unknown mechanism linking allele-specific effects of rs13102260 on HTT expression to HD age of onset of Huntington disease
25866151 Mutant huntingtin protein (mHtt) aggregates are present in all major components of the neurovascular unit in Huntington disease patients.
25849918 This suggests that altered HIP14-HTT and HIP14L-HTT interactions in the presence of the HD mutation reduces palmitoylation and promotes mislocalization of HTT and other HIP14/HIP14L substrates
25773959 There is a significant heterogeneity of the huntingtin accumulation patterns that are observed at the cellular level.
25736541 we propose that "biallelic mutations" or "compound heterozygosity" are more accurate descriptive terms than "homozygosity" when there are two non-identical expanded HTT alleles.
25726852 We found that HTT CAG repeat alleles > 35 units were observed in only one of 4,458 chromosomes from individuals with bipolar disorder, compared to three of 3,656 chromosomes from control subjects.
25686248 Maximal activation of selective autophagy during stress is attained by the ability of Huntingtin to bind ULK1, a kinase that initiates autophagy, which releases ULK1 from negative regulation by mTOR.
25558820 HTT mutations linked with neurogeneration on Guam.
25540325 Reduction of ATM signaling could ameliorate mutant Huntingtin toxicity in cellular and animal models of Huntington's disease.
25505242 The interaction of HIV-1 CA with human cellular huntingtin protein (HTT) is identified by yeast two-hybrid screen
25464275 analysis of conformational rigidity in mutant huntingtin revealed by immunoassays and circular dichroism spectroscopy
25464109 A maternal intermediate allele with 33 CAG repeats expanded in transmission to 48 CAG repeats causing a de novo case of Huntington Disease in the family
25452431 alpha-syn and mutant Htt co-aggregate in vivo when co-expressed in Drosophila and produce a synergistic age-dependent increase in neurotoxicity associated to a decline in motor function and life span.
25446099 specific interaction of HYPK with HTT-N17 is crucial for the chaperone activity of HYPK
25416977 Studies indicate that Huntington's disease is a neurodegenerative disorder of the brain that is caused by the mutation of the gene huntingtin (htt).
25398943 Perinuclear or intranuclear inclusions of Mis-folded mutant huntingtin may contribute to degeneration of neurons by disrupting the nuclear envelope, activating the cell cycle and leading to slow progressive loss of neurons.
25380582 study to elucidate clinical variables associated with development of manifest Huntington's disease(HD) in patients with intermediate CAG repeat lengths; age, smoking and lower education achievement significantly associated with higher odds of manifest HD in patients with intermediate CAG repeat length mutations
25380050 Htt aggregates impair nuclear proteasome activity through the inhibition of HDAC3
25351248 Mutant Htt contributes to the pathogenesis of Huntington's Disease by enhancing mTORC1 activity.
25271967 mutant HTT regulates metabolic networks by affecting hypothalamic circuitries that do not involve the SF1 neurons of the ventromedial hypothalamus.
25205111 N17 and huntingtin 81-171 are required for huntingtin stress bodies formation.
25143394 Results suggests that expression of mutant Htt leads to Tau hyperphosphorylation, relocalization and sequestration through direct protein-protein interactions in inclusion-like compartments in the vicinity of the microtubular organizing center.
25131594 Amyloidogenesis of polyQ-containing HTTex1 (huntingtin exon 1) fragments. [Review]
25092318 Separated from the rest of the protein, the prion-like sequences of these proteins were themselves potent suppressors of polyQ-expanded huntingtin exon-1 toxicity, in both yeast and human cells
25062733 More mutant HTT than normal could arise from increased transcription of mutant HTT allele, or decreased clearance of mutant HTT mRNA, or both, in Huntington's disease
25041730 C-SH3 of Grb2 mediates the interaction with mutant Htt and this interaction being stronger could replace Gab1, with mutant Htt becoming the preferred partner. This would have immense effect on downstream signaling events.
25017010 Transneuronal propagation of mutant HTT protein pathology occurs in neural networks, including the corticostriatal pathway, which is affected early in Huntington's disease.
24998512 HTT exon1 fragments are differentially temperature sensitive depending on polyQ length.
24836077 A direct link is provided between mutant HTT, mitochondrial dysfunction and neuronal pathology.
24819723 Higher packing density of HTT molecules in brighter inclusions suggests that inclusion growth could involve an intermolecular compaction event within the inclusion, as more monomers and aggregates are recruited into the growing inclusion.
24798518 Mutant Htt aggregates can be found within the genetically normal transplanted tissue in 3 patients with Huntingtin disease whose long-term neuronal grafts had survived.
24784230 Our study demonstrates distinct but interacting roles of cortical and striatal huntingtin in Huntington's disease (HD) pathogenesis and suggests that optimal HD therapeutics may require targeting mHTT in both cortical and striatal neurons.
24747660 show that essential, species-relevant functions are disrupted by the HD mutation.
24705354 HIP14 shares a high proportion of interactors with HTT resulting in defective palmitoylation of the target proteins which might be an important mechanism towards pathogenesis of Huntington's disease.
24651384 Data show that deletion of huntingtin protein (HTT) amino acids 1-427 abolishes the interaction of HTT with palmitoyl acyltransferases huntingtin interacting protein 14 (HIP14) and huntingtin interacting protein 14-like (HIP14L).
24584051 Expression of mutant Huntingtin (mHTT) in microglia promotes cell-autonomous pro-inflammatory transcriptional activation by increasing expression and transcriptional activities of the myeloid lineage-determining factors PU.1 and C/EBPs.
24505464 Discoverd is one phospho-null mutation, at serine S116A, that had a protective effect against expanded polyglutamine-mediated cellular toxicity.
24471773 The data of this study showed comparable ranges of huntingtin gene CAG triplet repeats in normal people and in patients with Huntington's disease as in western populations.
24459296 Data reveal a novel post translational modification of HTT via the post-translational myristoylation of one of its caspase-cleaved fragments.
24459107 Small interfering RNA delivery to lower HTT expression reverses disease-associated alterations in cellular function, shown for the first time in primary human cells.
24415136 Using all-atom explicit solvent molecular dynamics simulations, we unveil the structure and dynamics of the htt(NT)Q(N) fragment on a phospholipid membrane at the atomic level.
24412394 HYPB protein interacts with the proline-rich region of HTT protein.
24407293 These data indicate that HTT is involved directly in membrane dynamics, cell attachment, and motility. Furthermore, they implicate dysregulation in these pathways as pathological mechanisms in Huntington disease.
24405192 The molecular analysis of the HTT locus in our cohort of HD patients showed a common founder haplotype in 8 of the 10 probands
24377263 Findings indicate that the presence of wild-type huntingtin has a beneficial role even when its relative expression level is lower than that of the mutant protein
24314096 The age difference between onset and genetic diagnosis showed significant delay in females compared to males.
24291262 Data indicate that recruitment of proteasomes into mutant huntingtin (mHTT) protein initiated inclusion bodies (IBs) was observed when the PSMB4-GFP was co-expressed with mHTT.
24277524 In the HTT protein, mutations impact ATM-dependent signaling and DNA repair pathways.
24217578 This study showed that pathogenic huntingtin inhibits endoplasmic reticulum (ER)-associated degradation and induces ER stress before its aggregation into visible inclusions.
24199621 findings demonstrate profound importance of sequence context in RNA folding. In transcripts with 17-70 repeats, CAG sequences base paired extensively with nucleotides in the 5' UTR and with conserved downstream sequences including a CCG-repeat region
24196953 Httex1 overstretches the protein quality control resources and that the defects can be partly rescued by overexpression of hsp40 and hsp70.
24086178 Studied aggregation conformers of mutant Htt in multiple in vitro, cell and ex vivo models of HD.
24081492 Synaptic mutant huntingtin inhibits synapsin-1 phosphorylation and causes neurological symptoms.
24054538 A significant inverse correlation between age at onset and expanded CAG repeats of htt protein was seen in cuban population.
23980182 Using a Drosophila model of HD, we found that altered expression of Ctr1B or ATP7 in the brain, or modulation of dietary copper availability, significantly modified the phenotypes caused by human Htt exon1-polyQ expression.
23966247 The rsults of this study suggested that PBMCs may act as sensors for HD with alterations in huntingtin.
23908352 Proteasomal degradation of mHtt-exon1 was devoid of polyQ peptides as partial cleavage products by incomplete proteolysis, indicating that mammalian proteasomes are capable of efficiently degrading expanded polyQ sequences.
23898200 Data indicate that the structural capacity of N17 to fold back toward distal regions within huntingtin requires an interacting protein, protein kinase C and casein kinase 2 substrate in neurons 1 (PACSIN1).
23853712 Using cryo-electron microscopy (cryoEM) and single particle cryo-electron tomography (SPT) we characterize the growth of fibrillar aggregates of mutant huntingtin exon 1 containing an expanded polyglutamine tract with 51 residues
23774650 show that ubiquilin-2 preferentially associates with huntingtin polyQ expansion aggregates compared to alpha-synuclein, tau and several other types of protein inclusions
23768628 Data suggest that mutant HTT is highly aggregation prone and formation of cytoplasmic aggregates and nuclear inclusions throughout the brain is one of the most striking hallmarks of Huntington's disease. [REVIEW]
23624566 In a cohort at risk for Huntington disease, the intermediate-length huntingtin allele CAG repeat expansion is associated with significant behavioral abnormalities but normal motor and cognition activity.
23583659 The sequestering of Rhes through its binding to mutant huntingtin may decrease the ability of Rhes to perform vital physiological functions in the striatum neurons of Huntington disease patients. (Review)
23575829 findings demonstrate that HTT is a crucial regulator of TrkB trafficking.
23443539 expanded CAG repeats bind to a translation regulatory protein complex containing MID1, protein phosphatase 2A and 40S ribosomal S6 kinase.
23370273 The study presents a near atomic resolution structure of exon 1 of HTT-36Q with insertion of 3 histidine residues within 36Q stretch resulting in the sequence Q7HQHQHQ27.
23339311 a summary of HTT protein aggregation mechanisms
23319588 This work defines a bona fide nuclear export sequence within N17 and links it to effects on protein aggregation. This may help explain the important role of N17 in controlling Htt toxicity.
23315009 Nucleolar stress induction can be induced via both mutant Htt protein and transcripts in Huntington's disease.
23305455 The amino-terminal domain of huntingtin alpha-helix adopts an alignment parallel to the membrane surface, and the tilt angle (75 degrees ) was nearly constant in all of the membranes that were investigated.
23300147 HTT protein accelerates breast tumour development and metastasis through ErbB2 signalling.
23297360 Thus, N17 is a master localization signal of huntingtin that can mediate huntingtin localization between the cytoplasm, nucleus and primary cilium.
23293686 Studied the effects of mutant Htt on HSF1; found under normal conditions, HSF1 function is highly similar in cells carrying either wild-type or mutant Htt, but polyQ-expanded Htt severely blunts the HSF1-mediated stress response.
23225006 Fibrillogenesis of huntingtin and other glutamine containing proteins.
23190281 Data indicate that Huntington's Disease (HD) monkey embryonic stem cells (rHD-ESCs) express mutant HTT and form intranuclear inclusion, a classical cellular feature of HD.
23160193 myeloid cells expressing mutant htt exhibit deficits in migration to chemotactic stimuli.
23115180 we generated an Huntington disease transgenic rat model using a human bacterial artificial chromosome, which contains the full-length HTT genomic sequence
23071649 Studies suggest that Hsc70 and lysosome-associated protein 2A (LAMP-2A) through chaperone-mediated autophagy (CMA) play a role in the clearance of Htt and suggest a novel strategy to target the degradation of mutant huntingtin (Htt).
23051704 Variations in the CAG repeats in the HTT gene is associated with Huntington's disease.
23012356 Identification of a karyopherin beta1/beta2 proline-tyrosine nuclear localization signal in huntingtin protein.
22984513 HdhQ150 mutant huntingtin fragments form a soluble oligomer pool that declines with aggregate deposition upon aging
22974559 PolyQ-htt controls EGFR degradation and recycling in fibroblasts from Huntington disease patients.
22917585 Critical nuclear events lead to transcriptional alterations in polyglutamine diseases such as spinocerebellar ataxia type 7 (SCA7) and Huntington's disease (HD).
22906125 The reuslts of this study a significant alteration of miR-200 family members, miR-200a, and miR-200c in the cerebral cortex and the striatum, at the early stage of disease progression in N171-82Q HD mice.
22891683 Calretinin, a member of the EF-hand family of calcium-binding proteins, is preferentially associated with mutated Htt, although it also interacts with wild-type Htt.
22815947 Promoters are differentially sensitive to N-terminal mutant huntingtin-mediated transcriptional repression
22801429 analysis of structural features and domain organization of huntingtin fibrils
22735540 cytotoxic effect of defined and comparable particle concentrations of on-assembly pathway oligomeric and fibrillar alpha-syn and Htt fragment corresponding to the first exon of the protein
22642889 Early cognitive dysfunction, as measured by the Spatial Operant Reversal Test (SORT), occurs prior to motor deficits, gross anatomical changes, or cell loss in the huntingtin transgenic (HD) rat with 51 CAG repeats.
22623107 generated HEK293 cell models stably expressing Strep- and FLAG-tagged Htt containing either 19Q (wild-type Htt), 55Q (mHtt), or 94Q (mHtt) repeats. Several novel modification sites of mHtt containing 55Q or 94Q were identified.
22580459 Expanded huntingtin interacted with many mitochondrial proteins, including AIFM1, consistent with a role for mitochondrial dysfunction in HD.
22573320 Data indicate that the toxicity of 103 glutamines (HttQ103) in yeast containing the [PSI(+)] prion is primarily due to sequestration of the essential protein, Sup35.
22556411 Htt has a role in translation and links protein synthesis to Huntington disease pathogenesis
22511757 Inhibition of lipid signaling enzyme diacylglycerol kinase epsilon attenuates mutant huntingtin toxicity.
22445760 a significant reduction in the accumulation of Htt588(Q95)-mRFP intracellular inclusion was observed when XBP1 was co-expressed in the striatum.
22433867 Studies show the fundamental differences in early aggregation events between mutant huntingtin exon-1 and shortstop proteins that may underlie the differences in toxicity.
22422149 Generated transgenic mice carrying N-terminal mutant huntingtin fused with green fluorescent protein as model for Huntington's disease.
22409360 CAG repeat alleles in the HTT gene is not a risk factor for amyotrophic lateral sclerosis nor modifies its clinical presentation.
22399227 Dysregulation of Sp1-mediated huntingtin transcription, combined with mutant huntingtin's detrimental effect on other Sp1-mediated downstream gene function, may contribute to the pathogenesis of Huntington's disease.
22375012 Native mutant htt occurs in brain and primary neurons as a soluble full-length monomer.
22359536 report primarily on cross-sectional baseline data from this recently completed prospective, longitudinal, observational determined phenotype and Huntingtin trinucleotide CAG repeat length.
22352297 FE65 facilitates the accumulation of mutant Htt in cells by preventing its degradation via the UPS, and thereby enhances the toxicity of mutant Htt
22337954 ectopic expression of FoxO1 enhanced autophagy and mHtt clearance in vitro.
22306738 Using small-angle X-ray scattering, the authors confirmed that the polyglutamine epitope recognized by 3B5H10 is a compact two-stranded hairpin within monomeric htt and is abundant in htt fragments unbound to antibody.
22306231 increasing CAG expansion size leads to delays in phenotypic onset.
22235343 a certain trinucleotide repeat influences normal brain structure in humans
22234237 mhtt552 reduces BDNF transcription in astrocytes, which might contribute to the neuronal dysfunction in HD
22219281 The caspase 6 huntingtin fragment may be a transient intermediate; short soluble nuclear fragments may be most relevant to Huntington disease pathogenesis.
22179316 Mutant HTT interferes with the TORC1-CREB interaction to repress BDNF transcription, and Sirt1 rescues this defect in vitro and in vivo.
22178478 The kinetic importance of huntingtin self-assembly was described.
22178474 Only huntingtinNT QN peptides with N=8 or more underwent conversion into polyQ beta-sheet aggregates.
22162197 This study confirmed a major influence of the gender of the transmitting parent and of the original size of the CAG tract in Huntington disease repeat instability
22123826 Hsp90 inhibition disrupted the interaction and induced clearance of Htt through the ubiquitin-proteasome system.
22119730 Huntingtin oligomerized with alpha-synuclein and sequestered it in the cytosol.
22110140 when added to cultured cells expressing mHtt, the purified recombinant ProTalpha protein not only entered the cells but it also significantly suppressed the mHtt-caused cytotoxicity.
22103299 GAD65 palmitoylation is important for the delivery of GAD65 to inhibitory synapses and suggest that impairment of GAD65 palmitoylation by mhtt may lead to altered inhibitory neurotransmission in Huntington's disease.
22101303 This study confirmed the validity of this tgHD rat as a model for the human HD phenotype.
22100810 the first structural and thermodynamic analysis of a premutation length TNR sequence in huntingtin.
22072510 This study demonistrated that increasing CAG repeats from 110 to 160 gives rise to the expected development of a more severe phenotype, whereas further increases beyond 200, up to 310 CAG repeats, reduce the severity of the phenotype.
22048026 miR-214, miR-150, miR-146a and miR-125b targeted HTT.
22011578 demonstrate that expression of mHtt causes increased phosphorylation of p53 on Ser46, leading to its interaction with phosphorylation-dependent prolyl isomerase Pin1
21997870 mutant Htt interacts with Drp1, elevates GTPase Drp1 enzymatic activity, increases abnormal mitochondrial dynamics and results in defective anterograde mitochondrial movement and synaptic deficiencies
21985783 WT HTT is essential for protein trafficking to the centrosome and normal ciliogenesis. In Huntington disease, hypermorphic ciliogenesis may affect signaling and neuroblast migration to dysregulate brain homeostasis and exacerbate disease progression.
21984825 In vitro and in vivo aggregation of a fragment of huntingtin protein directly causes free radical production.
21983719 This Huntington disease family showed reduced CAG trinucleotide repeats of IT15 gene during maternal transmission.
21971427 single-nucleotide polymorphisms in the huntington disease protein is associated with Huntington disease.
21968397 analysis of how a disulfide-free single-domain V(L) intrabody with blocking activity towards huntingtin reveals a novel mode of epitope recognition
21954231 IRE1 plays an essential role in ER stress-mediated aggregation of mutant HTT via the inhibition of autophagy flux.
21896647 Thus, mutant huntingtin expression impairs misfolded secretory protein turnover, decreases the endoplasmic reticulum stress threshold, and increases cell vulnerability to insults
21889981 The ability to deliver mutant Htt to specific tissues has opened pathological processes to experimental analysis and allowed targeted therapeutic development in rodent and primate pre-clinical models--REVIEW
21889504 Results predict the free energy landscape of huntingtin in aqueous solution in order to examine the role in the protein's structure in its aggregation.
21887328 reduced miR-125b and miR-150 expressions, increased p53 level and decreased RelA/NFkB and miR-146a expressions originate from mutant HTT
21875723 The CCG polymorphism may not influence the pathogenesis of patients with Huntington disease in mainland China.
21685499 This report represents the first comprehensive mapping of lysine acetylation sites in N-terminal region of Htt.
21566141 Interaction with polyglutamine-expanded huntingtin alters cellular distribution and RNA processing of huntingtin yeast two-hybrid protein A (HYPA).
21540131 findings suggesta slight maternal contraction bias as opposed to a paternal expansion bias of the mutant HTT CAG repeat during intergenerational transmission
21519949 Patients homozygous for huntingtin CAG repeat mutations and heterozygous with high size mutations causing juvenile onset Huntington disease presented significantly increased caspase activities, decreased cell viability and morphological abnormalities.
21518730 expanded polyQ per se does not alter Htt interactions and suggest that aggregated mHtt form molecular platforms that influence the Htt interacting network.
21515588 Transgenic mice expressing caspase-6-derived N-terminal fragments of mutant huntingtin develop neurologic abnormalities with predominant cytoplasmic inclusion pathology composed largely of a smaller proteolytic derivative.
21509658 Data demonstrate that huntingtin(4-17) is the essential sequence for huntingtin cytoplasmic localization.
21501628 the ketogenic diet-which generally causes weight loss in normal animals-delayed the reduction in body weight of the transgenic mice.
21482444 Microglia effect a localized inflammatory response to neuronal mhtt transgene expression that may serve to direct microglial removal of dysfunctional neurites or aberrant synapses.
21465263 Data suggest a possible relationship between p53 and the slow accumulation of DNA damage resulting from the expression of mutant huntingtin.
21458571 Neuropathological changes in the huntingtin-expressing YAC128 murine model of Huntington disease are reduced in YAC128 mice both in absolute terms and in terms of percentage of brain volume.
21454471 Tumor necrosis factor receptor-associated factor 6 (TRAF6) associates with huntingtin protein and promotes its atypical ubiquitination to enhance aggregate formation.
21364626 Expression of mutant Huntington protein induces the accumulation of monomeric BNip3, BNip3 dimerization and BNip3 integration into the outer mitochondrial membrane in HD cell culture models.
21336284 Mutant huntingtin abnormally interacts with the mitochondrial fission GTPase dynamin-related protein-1 (DRP1) in mice and humans with Huntington's disease, which, in turn, stimulates its enzymatic activity
21322024 in Huntington disease patients with the same number of CAG repeats of the mutant allele, number of CAG repeats of the normal allele was found uncorrelated to the age at onset
21320997 Data showed an inverse correlation between the plasma levels of valine and leucine and number of CAG repeats of HTT, the primary determinant of HD severity.
21315254 Review of mouse models describes reduction in levels of expression of HTT that should be therapeutic for Huntington's disease patients, if they can be achieved. Refinements in measurements of pathology are needed to make the most of mouse model studies.
21310951 Cysteine proteases bleomycin hydrolase and cathepsin Z mediate N-terminal proteolysis and toxicity of mutant huntingtin.
21280221 A new computational method establishes an increase in the mean average prediction precision for huntingtin protein partners, which is important for new targeted therapies.
21257639 mutant Htt in association with mitochondria imbalance and mitochondrial dynamics impairs axonal transport of mitochondria, decreases mitochondrial function and damages neurons in affected brain regions of HD patients.
21248742 Study finds that CAG expansion at the HTT locus occurs preferentially on specific haplogroups; the highest risk haplogroups are found in the European population, which presumably emerged after the separation of European and Asian populations.
21245084 Preferential accumulation of N-terminal mutant huntingtin in the nuclei of striatal neurons is regulated by phosphorylation.
21209075 an important role for a compact beta structure in mutant huntingtin-induced cell toxicity.
21192926 In this model of Huntington's disease, a portion of human exon 1 with 140 CAG repeats is knocked into the mouse huntingtin gene; a significant difference is found in the behaviors of the afflicted "CAG 140" mice.
21177255 Huntington's disease-induced dysregulation of the striatal transcriptome is attributed to intrinsic effects of mutant Htt.
21169558 these data support a model of Htt as a facilitator of dynein-mediated trafficking that may regulate the cytoskeletal association of dynamic organelles.
21147489 the neurological manifestations of patients with an indeterminate CAG repeat length (36-39) of the Huntingtin gene
21087194 N-terminal human huntingtin NHtt-152Q(NLS) larvae had altered dendrite morphology and larval locomotion, whereas NHtt-152Q, NHtt-18Q(NLS), and NHtt-18Q larvae did not.
21044956 to uncover candidate therapeutic targets and networks involved in pathogenesis, we integrated gene expression profiling and functional genetic screening to identify genes critical for mutant htt toxicity in yeast
20875859 Decreases in neurogenesis are demonstrated in the dentate gyrus of human mutant huntingtin transgenic YAC128 mice; these deficits may cause the cognitive abnormalities observed in these animals.
20864533 Hsp70 and Hsp40 functionally interact with soluble mutant huntingtin oligomers in a classic ATP-dependent reaction cycle.
20864123 the significantly lower prevalence of Huntington's disease in Chinese individuals may partly result from the lower frequency of the predisposing haplotype for CAG instability in the population
20864123 Observational study of gene-disease association. (HuGE Navigator)
20858895 Mutant htt rescues cell death upon microtubule depolymerization via the GEF-H1-RhoA-ERK pathway.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20710011 Observational study of gene-disease association. (HuGE Navigator)
20708032 An expanded CAG repeat sequence in the huntingtin gene leads to a polyglutamine expansion in the expressed protein, resulting in complex dysfunctions including cellular excitotoxicity and transcriptional dysregulation.
20531388 Data report a new pathological mechanism by which mutant huntingtin specifically interferes with the degradation of beta-catenin.
20494921 These findings suggest that the presence of mutant Htt in astrocytes alters glial glutamate transport capacity early in the disease process and may contribute to Huntington's disease pathogenesis.
20444706 huntingtin aggregation is streamlined in cells and is consistent with the 140 S oligomers, which remain invariant over time, as a constant source of toxicity to cells irrespective of total load of insoluble aggregates
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20360314 Observational study of gene-disease association. (HuGE Navigator)
20232225 calpastatin and an altered NF-kappaB-p65 signaling are crucial factors involved in oxidative stress and cell death mediated by mutant huntingtin proteins
20204693 p62 directly binds to the evolutionarily conserved cargo receptor-binding domain of Atg8/LC3 and selectively mediates the clearance of mutant Huntingtin.
20154145 Data indicate that the physical interaction between HYPK and NatA Naa10/15 seems to be of functional importance both for huntingtin aggregation and for N-terminal acetylation.
20145253 Mutant huntingtin in glial cells exacerbates neurological symptoms of Huntington disease mice.
20140226 Data show that the first 50 amino acids of ARN127 and the first 14 amino acids of Htt exon 1 mediate binding to filamentous actin in vitro.
20126661 impairment of endoplasmic reticulum-associated degradation by mutant htt proteins is associated with induction of ER stress
20097678 Human htt levels modulate body weight by influencing IGF1 expression in transgenic mice model.
20064390 Together, our findings demonstrate that serines 13 and 16 are critical determinants of fl-mhtt-induced disease pathogenesis in vivo, supporting the targeting of huntingtin NT17 domain and its modifications in HD therapy.
20056037 Observational study of genetic testing. (HuGE Navigator)
20026071 atomistic simulations and circular dichroism experiments that quantify the effect of the N-terminal 17-residue (Nt17) segment of the huntingtin protein on polyglutamine conformations and intermolecular interactions
20018729 mutant huntingtin in astrocytes decreases the expression of glutamate transporter by increasing its binding to Sp1 and reducing the association of Sp1 with the promoter of glutamate transporter
20016831 D2R-induced vulnerability in Huntington disease is critically linked to the activation of the Rho/ROCK signalling pathway.
20016493 sticky N17 speeds huntingtin pile-up
19969308 These findings suggest that alpha Pix plays an important role in mutant huntingtin aggregation.
19933700 Huntingtin is a novel stimulator of polycomb repressive complex 2.
19916101 Observational study of gene-disease association. (HuGE Navigator)
19915590 TRiC does not physically block the polyQ tract of Htt itself, but rather sequesters a short Htt sequence element, N-terminal to the polyQ tract, that promotes the amyloidogenic conformation.
19776381 Increasing CAG repeat size in normal HTT diminishes the association between mutant CAG repeat size and disease severity and progression in Huntington disease.
19776381 Observational study of gene-disease association. (HuGE Navigator)
19752198 A novel mechanism for cellular dysfunction by the HD mutation arising from the inhibition of Rab11 activity and a deficit in vesicle formation at recycling endosomes, is proposed.
19748341 propose that the pathogenic polyQ expansion in the Htt protein increases the length of the random coil, which promotes aggregation and facilitates abnormal interactions with other proteins in cells
19726651 An altered association between membrane-associated guanylate kinases (such as PSD-95) and NMDA receptors in mutant huntingtin-expressing cells contributes to increased susceptibility to excitotoxicity.
19710014 Phosphorylation of threonine 3: implications for Huntingtin aggregation and neurotoxicity.
19667213 Reducing mutant huntingtin expression may offer a treatment for Huntington disease. RNA interference has emerged as a powerful method to silence dominant disease genes.
19661690 Impairment of beta cells is mostly linked with the aggregate formation of mutant huntingtin, and that HSP40 ameliorates the malfunction of pancreatic beta cells by inhibiting aggregation.
19628478 Mutant huntingtin disrupts intracellular transport and insulin secretion by interacting with tubulin beta 5.
19566678 Huntingtin may participate in phosphoinositol 3-kinase dependent growth factor signaling at the plasma membrane, and interface with mitochondria through interactions with cardiolipin.
19525941 data identify JNK3 as a critical mediator of pathogenic Htt (polyQ-Htt)toxicity and provide a molecular basis for polyQ-Htt-induced inhibition of fast axonal transport
19498170 study reports Rhes, which is localized selectively to the striatum, binds to mutant huntingtin (mHtt); Rhes induces sumoylation of mHtt leading to cytotoxicity; Rhes-mHtt interactions can account for the localized neuropathology of Huntington disease
19492089 Conformation-specific intrabody co-localizes with intracellular aggregates of misfolded ataxin-3 and a pathological fragment of huntingtin, and enhances the aggregation propensity of both disease-linked polyglutamine proteins.
19488402 IKKalpha and IKKbeta regulation of DNA damage-induced cleavage of huntingtin
19451134 Wild-type huntingtin could bind to a number of nuclear receptors; LXRalpha, PPARgamma, VDR and TRalpha1. Over-expression of huntingtin activated, while knockout of huntingtin decreased, LXR mediated transcription of a reporter gene.
19386911 In vitro and in vivo Htt fibrillar aggregates function as a structural template for inducing insoluble fibrillation of TIA-1 in a Huntington's disease model mouse.
19361448 Results describe the structure of the headpiece of the Huntingtin protein and propose its role in protein aggregation.
19289118 Observational study of gene-disease association. (HuGE Navigator)
19270701 The authors show here that the 17-amino-acid flanking sequence (HTT(NT)) N-terminal to the polyQ in the toxic huntingtin exon 1 fragment imparts onto this peptide a complex alternative aggregation mechanism.
19270310 increased phosphorylation of huntingtin via calcineurin inhibition, rather than via Akt induction or activation, is the likely mechanism by which RCAN1-1L may be protective against mutant huntingtin.
19268537 Therefore vesicle transport abnormalities amidst axonal htt aggregation places a cumulative burden upon normal neuronal function under stressful conditions.
19266143 Overall we have demonstrated that increased CAG repeat length is associated with atrophy in extra-striatal as well as striatal regions, which has implications for the monitoring of disease-modifying therapies in the condition.
19266143 Observational study of gene-disease association. (HuGE Navigator)
19250382 Observational study of gene-disease association. (HuGE Navigator)
19249009 These data support a stepwise model for CAG expansion into the affected range (>or=36 CAG) and identifies specific haplogroup variants in the general population associated with this instability.
19249009 Observational study of gene-disease association. (HuGE Navigator)
19240033 exposure to ER stress increases SCAMP5 in the striatum, which positively regulates mtHTT aggregation via the endocytosis pathway
19204007 These data suggest that cleavage of huntingtin at residue Arg(167) may mediate mutant huntingtin toxicity in Huntington disease.
19196932 Observational study of gene-disease association. (HuGE Navigator)
19133136 Observational study of gene-disease association. (HuGE Navigator)
19130884 study examined the effect of varying the CAG repeat length (from 170 to 450) and found that increasing the repeat length delayed onset of disease and prolonged survival in transgenic mice
19115052 Observational study of gene-disease association. (HuGE Navigator)
19059613 Huntington disease could manifest with as few as 34 CAG repeats, in some geographic areas, the disease phenotype most probably being influenced by additional, as yet unidentified, genes
19039036 Cells expressing Htt proteins with 74 or 138 polyglutamine repeats were more sensitized to oxidative stress-induced mitochondria fragmentation and had reduced ATP levels.
19027857 findings indicate that mutant huntingtin with an extremely long polyQ tract is hindered in its nuclear entry and is expressed at diminished levels, with pathogenicity resultingly diminished
19026253 Observational study of gene-disease association. (HuGE Navigator)
19018245 In all Huntington disease cases studied, TDP-43 was frequently colocalized with huntingtin in dystrophic neurites and various intracellular inclusions, but not in intranuclear inclusions.
18992820 Data show that phosphorylation at S421 reduces the nuclear accumulation of huntingtin-caspase-6 fragments by reducing huntingtin cleavage by caspase-6, the levels of full-length huntingtin, and its nuclear localization.
18981372 Results suggest that weight loss in Huntington disease is directly linked to CAG repeat length and is likely to result from a hypermetabolic state.
18922795 REST/NRSF, dynactin p150(Glued), huntingtin, HAP1, and RILP form a complex involved in the translocation of REST/NRSF into the nucleus and HAP1 controls REST/NRSF cellular localization in neurons
18831068 data suggest that the expression of mutant Htt causes an accumulation of DNA breaks that activates the DNA damage response pathway, a process that can disable cell function
18772195 A polyglutamine-htt vector constitutively phosphorylated at serine 421 of mutant, impaired huntingtin is as effective as wild-type htt in promoting vesicular transport of htt and inducing vesicular release of brain-derived neurotrophic factor.
18718937 Data indicate that Drosophila and Human Htt share biological properties, and confirm a model whereby Engrailed activates endogenous dhtt, which in turn prevents polyQ-hHtt-induced phenotypes
18651325 244 Patients with the diagnosis of Huntington's Disease and without mutation of the IT15 gene revealed one case of SCA17 but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA and HDL2.
18649400 No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD.
18640989 the widely used mutant huntingtin-exon 1 CAG repeat HD transgenic mice model (R6/2) (with 144 CAG repeat and exon 1) during late-stage pathology, had increases in proteasome activity in the striatum
18632688 demonstration of in vivo cell-autonomous transcriptional dysregulation in an HD transgenic mouse model
18586675 A common motif targets huntingtin and the androgen receptor to the proteasome
18558632 Studies using transgenic mice and monkeys suggest that the neuropathology of Huntington's disease is due to the accumulation of N-terminal mutant htt fragments of mutant htt.
18504298 the intrabody reduces the specific neurotoxicity of cytoplasmic mutant huntingtin and its associated neurological symptoms by preventing the accumulation of mutant huntingtin in neuronal processes and promoting its clearance in the cytoplasm
18445618 The nucleus is the primary site of htt cleavage at amino acid 586 by caspase 6.
18400894 Alteration of histone monoubiquitylation by mutant huntingtin is key pathogenic mechanism in Huntington's disease(HD). These findings aprovide rationale for targeting histone monoubiquitylation for therapy in HD.
18380890 Both wheel running and environmental enrichment rescued HD-induced abnormal habituation of locomotor activity and exploratory behavior in the open field.
18337408 Mutant huntingtin reduces the distribution and transport rate of mitochondria in transgenic neuronal cells.
18267960 In primary striatal cultures, dopamine increases the toxicity of an N-terminal fragment of mutated huntingtin (Htt-171-82Q).
18255062 huntingtin fragment proteins with expanded polyglutamine repeats causes cell death in neuronal PC6.3 cell that involves endoplasmic reticulum stress.
18157708 Huntington gene mutation is associated with Huntington disease
18091069 Observational study of genetic testing. (HuGE Navigator)
18078716 Analysis of the aggregation-prone protein Htt encoded by HD gene exon 1 containing polyglutamine expansions (Htt86Q) revealed that 17 residues in the NH(2)-terminal of this protein are indispensable for its aggregate formation.
18068007 A linkage disequilibrium was found between Japanese HD chromosomes and (CCG)10, whereas western HD chromosomes are strongly associated with (CCG)7.
18065495 huntingtin toxicity in cell models and neurons is enhanced by Pak1 overexpression
18063376 Striatal neurons responded to the expression of a mutant huntingtin protein by activating protective mechanisms that modify NMDA receptor-mediated excitotoxic damage in transgenic mice.
18029446 expanded-huntingtin-induced transcriptional dysregulation and striatal death associated with with Mitogen- and stress-activated protein kinase-1 deficiency.
18006506 These results suggested that the HspB8-Bag3 complex might stimulate the degradation of Htt43Q by macroautophagy.
17989880 These results suggest that the polyQ domain, but not the polyP domain, plays a role in the sequestration of GAPDH to aggregates by mutant htt
17975550 A review of possible mechanisms to explain how mutant huntingtin can paradoxically protect neurons from death in transgenic mice.
17952586 CAG repeats instability and mutant Htt are causative factor in mtDNA damage in Huntington disease
17948889 While cortical and striatal neurons can survive nearly a year with nuclear and extranuclear aggregates of mutant huntingtin, such lengthy survival does reveal cortical and striatal abnormality brought on by the truncated mutant protein.
17947297 The present study, has confirmed, by confocal microscopy and immunoprecipitation, that HYPK interacts with the N-terminal of Htt.
17941857 Observational study of gene-disease association. (HuGE Navigator)
17902043 Mutated Htt-exon 1 could mimic the cellular phenotypes observed in Huntington's disease.
17708681 Rather than a direct impact on the mitochondrion, the polyglutamine tract may modulate some aspect of huntingtin's activity in extra-mitochondrial energy metabolism.
17687393 The results definitely confirm the diagnosis of HD and indicate the CAG trinucleotide repeat expansion of IT15 gene in this HD family.
17660463 Repeat-length changes were dependent upon the sex of the transmitting parent, sex of the offspring, and parental CAG repeat length but not parental age or birth order. Genetic factors play a role in intergenerational CAG repeat instability.
17611284 Wild-type huntingtin is a component of the DNA damage response signal in neurons.
17610899 Observational study of gene-disease association. (HuGE Navigator)
17548833 HD facilitates dynein-mediated vesicle transport.
17519223 Mutant huntingtin protein effects disease-related transcription in the brain.
17500595 Seven interacting proteins from among 11 tested were able to co-immunoprecipitate with full-length Htt from mouse brain.
17433700 Testicular pathology results from a direct toxic effect of mutant huntingtin in the testis and is supported by the fact that huntingtin is highly expressed in the affected cell populations in the testis.
17409200 the CAG repeat is unstable in all cell types tested although neurons tend to have longer mutation length gains than glia
17403029 mutant htt alters the activation of type 2 transglutaminase in response to certain stimuli
17361007 Observational study of gene-disease association. (HuGE Navigator)
17299753 The tgHD rat model reflects to a remarkable extent the cellular and subcellular neuropathological key features as observed in human HD and HD mouse brains and hints of changes in limbic forebrain systems.
17276991 Expression of single, isolated ubiquitin-interacting motifs inhibit aggregation of mutant huntingtin and could serve as potential inhibitors of polyQ-aggregation in vivo.
17240517 Review discusses the role of normal huntingtin in transcriptional regulation and misregulation in Huntington's disease in relation to potentially analogous model systems, and to other polyglutamine disease proteins [review]
17208201 Here, we report that upon the formation of huntingtin aggregates; endogenous cytosolic huntingtin, Hsc70/Hsp70 (heat shock protein and cognate protein of 70kDa) and syntaxin 1A become aggregate-centered.
17201528 Observational study of gene-disease association. (HuGE Navigator)
17189290 A role for huntingtin in the intracellular trafficking of proteins required for the construction of the extracellular matrix.
17161366 analysis of the specific interactions between Htt proline-rich region (PRR) and its binding partners as well as the alteration of these interactions that involve PRR
17151278 A new role is revealed for huntingtin in the regulation of the post-Golgi trafficking of proteins that follow the regulated secretory pathway.
17141218 Hrd1 is a novel htt-interacting protein that can target pathogenic httN for degradation and is able to protect cells against httN-induced cell death.
17135277 The sub-cellular localization is most strongly influenced by the first 17 amino acids, with this sequence critically controlling Httex1p mitochondrial localization and also promoting association with the endoplasmic reticulum (ER) and Golgi.
17126554 These data demonstrate that mutant huntingtin expression has potent cardiotoxic effects; cardiac failure may be a significant complication of this important experimental model of HD.
17124493 These data demonstrate that huntingtin inhibits caspase-3 activity.
17115386 Autopsy-proven Huntington's disease with 29 trinucleotide repeats.
17098699 In conclusion, the clinical symptoms are partly determined by (CAG)n repeats in the IT15 gene.
17012230 context dependent transcriptional dysregulation may contribute to differential toxicity of various N-terminal htt fragments
16973623 The effect of mutations in huntingtin on calcium metabolism in the mitochondria of corpus striatum neuron cell lines is reported.
16968735 Study uses an inducible yeast model of HD by expressing a mutant human huntingtin fragment and showed that in yeast cells expressing the mutant fragment cell respiration was progressively reduced after 4-6 h of induction with galactose.
16835690 htt and GASP2 form a complex in cotransfected mammalian cells
16782707 More than six novel serine phosphorylation sites have been identified within Htt, one of which lies in the proteolytic susceptibility domain.
16777606 These results are consistent with proteolysis of htt at the caspase-6 cleavage site being an important event in mediating neuronal dysfunction and neurodegeneration in HD.
16729030 Mutated huntingtin (htt) is ubiquitously expressed in tissues of Huntington's disease (HD) patients. Another notable feature was the formation of htt inclusions in differentiated myoblasts.
16606912 Observational study of gene-disease association. (HuGE Navigator)
16595690 report the expression and preliminary characterization of recombinant full-length wild-type human htt. Our results support a model of htt composed entirely of HEAT repeats that stack to form an elongated superhelix
16522639 age-dependent decrease of beclin 1 expression may lead to a reduction of autophagic activity during aging, which in turn promotes the accumulation of mutant Htt and the progression of the disease
16473015 We conclude that in cortical neurons, an early event in HD pathophysiology is the aberrant mobility and trafficking of mitochondria caused by cytosolic Htt aggregates.
16452635 The present results strongly suggest that complex II defects produced by N-terminus fragment of mutated huntingtin in HD may be instrumental in striatal cell death.
16417581 Transgenic mice over-expressing full-length wild-type huntingtin were dramatically protected from apoptosis and caspase-3 activation.
16391387 NAKAP-HypA scaffold is a potential nuclear docking site for huntingtin protein and may contribute to the nuclear accumulation of huntingtin observed in HD.
16365166 Mutant htt in cultured astrocytes decreased their protection of neurons against glutamate excitotoxicity. These findings suggest that decreased glutamate uptake caused by glial mutant htt may critically contribute to neuronal excitotoxicity in HD
16324236 Observational study of gene-disease association. (HuGE Navigator)
16286508 p62 may, via LC3, be involved in linking polyubiquitinated protein aggregates to the autophagy machinery and has a protective effect on huntingtin-induced cell death
16278683 p53 protein can regulate huntingtin expression at transcriptional level
16204350 Yeast hsp104 overexpressed in transgenic mice that express the first 171 residues of mutant human huntingtin reduces polyglutamine aggregation and increases survival of Huntington's disease (HD) model mice by 20%.
16192271 HDAC6-dependent retrograde transport on microtubules is used by cells to increase the efficiency and selectivity of autophagic degradation of aggregated huntingtin
16183657 nuclear exon 1 mutant protein is sufficient to induce cytoplasmic neurodegeneration and transcriptional dysregulation; cytoplasmic mutant exon 1 htt, if present, contributes to disease progression
16162412 Our data indicate that htt(exon1) enhances calcium influx by blocking syntaxin 1A inhibition of N-type calcium channels and attributes a key role for htt N-terminal fragments in the fine tuning of neurotransmission.
16115812 The polyglutamine tract in huntingtin appears to regulate mitochondrial ADP-phosphorylation in a Ca2+-dependent process that fulfills the genetic criteria for the Huntington's disease trigger of pathogenesis.
16115810 There is an interplay between huntingtin, ataxin-2 and endophilin proteins in plastin-associated cellular pathways.
16085648 Huntingtin directly binds membranes through electrostatic interactions with acidic phospholipids
16006135 The present study demonstrates that viral vectors coding for mutant huntingtin provides an advantageous system for histological and biochemical analysis of HD pathogenesis in primary striatal cultures.
15994095 mutant huntingtin specifically affects CBP and not p300 both at the early and later time points, via multiple mechanisms
15951191 Reduced hippocampal neurogenesis may be a novel neuropathological feature in huntingtin transgenic mice that could be assessed when evaluating potential therapies.
15916486 Adenovirus-mediated silencing of huntingtin expression was effected by shRNA.
15911879 These data predict that the ability of cdk5 phosphorylation to protect against htt cleavage, aggregation, and toxicity is compromised in cells expressing toxic fragments of htt.
15890517 Our findings suggest that caspase cleavage of Htt is cytoplasmic and precedes sorting to specific perinuclear sites followed by nuclear translocation in HD patient tissue.
15843398 presence and pattern of huntingtin protein (htt) phosphorylation in the brain indicates that this dynamic post-translational modification is important for the regulation of htt and may contribute to selective neurodegeneration seen in Huntington disease
15809304 arfaptin 2 phosphorylation at Ser260 by Akt inhibits PolyQ-huntingtin-induced toxicity by rescuing proteasome impairment
15717026 Repeats of 40 or larger are associated with disease expression, whereas repeats of 26 and smaller are normal. Intermediate numbers of repeats, between 27 and 35, are not associated with disease expression but may expand in paternal transmission
15716522 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
15689617 Data show that polyglutamine-expanded mutant huntingtin suppresses expression of the A2A adenosine receptor by inhibiting its core promoter at least partially by preventing CREB binding.
15654337 These results suggest that Tpr has a role in the nuclear export of N-terminal htt and that polyQ expansion reduces this nuclear export to cause the nuclear accumulation of htt.
15610167 Transcription from three initiation sites located within a 50-bp region in the phosphodiesterase 10A-specific promoter is differentially affected by the presence of the mutant huntingtin transgene.
15496672 Here we report the purification of huntingtin aggregates from postmortem Huntington's disease brains.
15468075 Observational study of genotype prevalence. (HuGE Navigator)
15359012 Growing evidence discussed in this review suggests that mutant huntingtin mediates multiple pathological pathways causing selective neurodegeneration in brains of Huntington's disease patients.
15351733 siRNA is not directly linked to DNA methylation at the target huntingtin genomic locus in human cells
15340079 is involved in fast axonal trafficking
15338298 unusual infantile onset of the disease in a little girl who presented with a history of seizures and psychomotor regression starting at the age of 3 years
15316797 Observational study of gene-disease association. (HuGE Navigator)
15312898 Time course of striatal degeneration produced by expanded huntingtin (Exp-Htt)occurs rapidly: at 48 h post-transfection, 60% of cultured striatal neurons expressing Exp-Htt have apoptotic characteristics including fragmented DNA and neuritic retraction.
15273431 Observational study of gene-disease association. (HuGE Navigator)
15261377 In Huntington's disease, expansion occurs in the huntingtin protein. (review)
15240759 Causes huntingti0n disase when transfected into mice.
15163634 the mutant huntingtin protein significantly decreased the Ca2+ threshold necessary to trigger MPT pore opening which accompanied by a significant release of cytochrome c
15140196 Our findings using htt exon 1 suggest that the process of mutant htt aggregation rather than the resulting inclusion body is critical for neuronal cell death
15140195 Rapid clearance through the ubiquitin-proteasome pathway slows huntingtin aggregate formation, yet increases cellular toxicity. Polyglutamine neurotoxicity may be triggered by non-aggregated protein and aggregate formation may be a defense mechanism
15032971 Observational study of healthcare-related. (HuGE Navigator)
14985437 Inhibiting the interaction of calmodulin with transglutaminase and huntingtin protein could decrease cross-linking and diminish huntingtin aggregate formation in the HD brain
14978262 Nonnuclear events induced by cytoplasmic huntingtin aggregation play a central role in the progressive neurodegeneration observed in Huntington's disease.
14743370 A patient with triosephosphate isomerase (TPI) deficiency exhibited worsening of abnormal involuntary movements of the dystonic type and developed psychiatric symptoms while on selegiline.
14714490 Observational study of genotype prevalence. (HuGE Navigator)
14657499 genome-wide screens were performed in yeast to identify genes that enhance the toxicity of mutant huntingtin;the genes clustered in the functionally related cellular processes of response to stress, protein folding & ubiquitin-dependent protein catabolism
14617779 modeling framework based on a key analogy of the physicochemical properties of the huntingtin exon1 fragment to block copolymers
14572927 Observational study of healthcare-related. (HuGE Navigator)
14570907 huntingtin has a role in regulating cysteine string protein inhibition of N-type calcium channels
14570710 Here we show dramatic mutation length increases (gains of up to 1000 CAG repeats) in human striatal cells early in the disease course, most likely before the onset of pathological cell loss.
14527999 theories differ with respect to subcellular distribution of HD at initiation of toxicity in Huntington's diease: nuclear if cleaved and cytoplasmic in the absence of cleavage
12956863 Observational study of genotype prevalence. (HuGE Navigator)
12952868 Regulated expression of huntingtin (Huntington disease) induced reversible striatal neuropathology typical for Huntington disease.
12873381 Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1.
12824708 Observational study of gene-disease association. (HuGE Navigator)
12810713 polyglutamine-expanded huntingtin induces tyrosine phosphorylation of N-methyl-D-aspartate receptors
12807877 HD mutation is accompanied by a dramatic decline in Ca2+-triggered exocytosis of neurotransmitter and the decline in neurotransmitter release is a direct consequence of complexin II depletion.
12799135 may function as a transcriptional coactivator of nuclear hormone receptors.
12784292 Observational study of gene-disease association. (HuGE Navigator)
12682342 In cases where the mother is known to be not a carrier, early Huntington disease prenatal diagnosis is possible by semiquantitative fluorescent-PCR of trace fetal dna in maternal blood samples
12657678 Context-dependent neurodegeneration in huntington disease may be mediated by different N-terminal huntingtin fragments
12569151 Role of huntingtin in human health and disease [review]
12555240 Observational study of genetic testing. (HuGE Navigator)
12548366 Observational study of gene-disease association. (HuGE Navigator)
12466534 An upstream open reading frame impedes translation of the huntingtin gene
12427879 Observational study of genetic testing. (HuGE Navigator)
12393306 Observational study of gene-disease association. (HuGE Navigator)
12204002 Observational study of gene-disease association. (HuGE Navigator)
12191472 Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions.
12135980 Impaired glutamate transport and glutamate-glutamine cycling: downstream effects of the Huntington mutation in transgenic mice
12062094 mutant huntingtin containing an expanded polyglutamine stretch induces neuronal death.
11988536 huntingtin interacts with Sp1 and TAFII130; transcriptional activity of SP1 and TAFII130 disrupted in early Huntingtin's Disease
11973620 Observational study of genetic testing. (HuGE Navigator)
11971872 findings suggest that altered gene expression may result from the interactions of soluble mutant huntingtin with nuclear transcription factors, rather than from the depletion of transcription factors by nuclear inclusions
11939977 Observational study of gene-disease association. (HuGE Navigator)
11906693 These results suggest that medium-sized spiny striatal neurons are more vulnerable to NR2B-subtype NMDAR-mediated cell death in a transgenic mouse model of HD expressing full-length mutant huntingtin, compared with wild-type mice.
11870213 Huntingtin is found in the perinuclear region along with microtubules, and in the centrosomal region along with gamma-tubulin. Inclusions are found in perinuclear locations because the beta-tubulin binding property of huntingtin brings it there.
11854752 arfaptin 2 is involved in regulating huntingtin protein aggregation
11807410 Observational study of gene-disease association. (HuGE Navigator)
11792860 Effects of intracellular expression of anti-huntingtin antibodies of various specificities on mutant huntingtin aggregation and toxicity.
11745989 Observational study of genetic testing. (HuGE Navigator)
11739372 In human fibroblasts from normal and HD patients, huntingtin localized diffusely in the nucleus and in subnuclear compartments identified as speckles, promyelocytic leukemia protein bodies, and nucleoli
11738012 Observational study of genetic testing. (HuGE Navigator)
11642542 Normal huntingtin has an important role in neuronal cell survival, and loss of function of the normal protein may contribute to HD as well as gain of function of the abnormal huntingtin.
11595021 Observational study of genetic testing. (HuGE Navigator)
11487199 Observational study of genetic testing. (HuGE Navigator)
11432963 wild type huntingtin reduces the cellular toxicity of mutant huntingtin in mammalian cell models of Huntington's disease
11379408 Observational study of genetic testing. (HuGE Navigator)
11149616 Observational study of genetic testing. (HuGE Navigator)
11121205 Observational study of gene-disease association. (HuGE Navigator)
11105061 Observational study of gene-disease association. (HuGE Navigator)
11008591 Observational study of genotype prevalence. (HuGE Navigator)

AA Sequence

MATLEKLMKAFESLKSFQQQQQQQQQQQQQQQQQQQQQPPPPPPPPPPPQLPQPPPQAQPLLPQPQPPPP      1 - 70
PPPPPPGPAVAEEPLHRPKKELSATKKDRVNHCLTICENIVAQSVRNSPEFQKLLGIAMELFLLCSDDAE     71 - 140
SDVRMVADECLNKVIKALMDSNLPRLQLELYKEIKKNGAPRSLRAALWRFAELAHLVRPQKCRPYLVNLL    141 - 210
PCLTRTSKRPEESVQETLAAAVPKIMASFGNFANDNEIKVLLKAFIANLKSSSPTIRRTAAGSAVSICQH    211 - 280
SRRTQYFYSWLLNVLLGLLVPVEDEHSTLLILGVLLTLRYLVPLLQQQVKDTSLKGSFGVTRKEMEVSPS    281 - 350
AEQLVQVYELTLHHTQHQDHNVVTGALELLQQLFRTPPPELLQTLTAVGGIGQLTAAKEESGGRSRSGSI    351 - 420
VELIAGGGSSCSPVLSRKQKGKVLLGEEEALEDDSESRSDVSSSALTASVKDEISGELAASSGVSTPGSA    421 - 490
GHDIITEQPRSQHTLQADSVDLASCDLTSSATDGDEEDILSHSSSQVSAVPSDPAMDLNDGTQASSPISD    491 - 560
SSQTTTEGPDSAVTPSDSSEIVLDGTDNQYLGLQIGQPQDEDEEATGILPDEASEAFRNSSMALQQAHLL    561 - 630
KNMSHCRQPSDSSVDKFVLRDEATEPGDQENKPCRIKGDIGQSTDDDSAPLVHCVRLLSASFLLTGGKNV    631 - 700
LVPDRDVRVSVKALALSCVGAAVALHPESFFSKLYKVPLDTTEYPEEQYVSDILNYIDHGDPQVRGATAI    701 - 770
LCGTLICSILSRSRFHVGDWMGTIRTLTGNTFSLADCIPLLRKTLKDESSVTCKLACTAVRNCVMSLCSS    771 - 840
SYSELGLQLIIDVLTLRNSSYWLVRTELLETLAEIDFRLVSFLEAKAENLHRGAHHYTGLLKLQERVLNN    841 - 910
VVIHLLGDEDPRVRHVAAASLIRLVPKLFYKCDQGQADPVVAVARDQSSVYLKLLMHETQPPSHFSVSTI    911 - 980
TRIYRGYNLLPSITDVTMENNLSRVIAAVSHELITSTTRALTFGCCEALCLLSTAFPVCIWSLGWHCGVP    981 - 1050
PLSASDESRKSCTVGMATMILTLLSSAWFPLDLSAHQDALILAGNLLAASAPKSLRSSWASEEEANPAAT   1051 - 1120
KQEEVWPALGDRALVPMVEQLFSHLLKVINICAHVLDDVAPGPAIKAALPSLTNPPSLSPIRRKGKEKEP   1121 - 1190
GEQASVPLSPKKGSEASAASRQSDTSGPVTTSKSSSLGSFYHLPSYLKLHDVLKATHANYKVTLDLQNST   1191 - 1260
EKFGGFLRSALDVLSQILELATLQDIGKCVEEILGYLKSCFSREPMMATVCVQQLLKTLFGTNLASQFDG   1261 - 1330
LSSNPSKSQGRAQRLGSSSVRPGLYHYCFMAPYTHFTQALADASLRNMVQAEQENDTSGWFDVLQKVSTQ   1331 - 1400
LKTNLTSVTKNRADKNAIHNHIRLFEPLVIKALKQYTTTTCVQLQKQVLDLLAQLVQLRVNYCLLDSDQV   1401 - 1470
FIGFVLKQFEYIEVGQFRESEAIIPNIFFFLVLLSYERYHSKQIIGIPKIIQLCDGIMASGRKAVTHAIP   1471 - 1540
ALQPIVHDLFVLRGTNKADAGKELETQKEVVVSMLLRLIQYHQVLEMFILVLQQCHKENEDKWKRLSRQI   1541 - 1610
ADIILPMLAKQQMHIDSHEALGVLNTLFEILAPSSLRPVDMLLRSMFVTPNTMASVSTVQLWISGILAIL   1611 - 1680
RVLISQSTEDIVLSRIQELSFSPYLISCTVINRLRDGDSTSTLEEHSEGKQIKNLPEETFSRFLLQLVGI   1681 - 1750
LLEDIVTKQLKVEMSEQQHTFYCQELGTLLMCLIHIFKSGMFRRITAAATRLFRSDGCGGSFYTLDSLNL   1751 - 1820
RARSMITTHPALVLLWCQILLLVNHTDYRWWAEVQQTPKRHSLSSTKLLSPQMSGEEEDSDLAAKLGMCN   1821 - 1890
REIVRRGALILFCDYVCQNLHDSEHLTWLIVNHIQDLISLSHEPPVQDFISAVHRNSAASGLFIQAIQSR   1891 - 1960
CENLSTPTMLKKTLQCLEGIHLSQSGAVLTLYVDRLLCTPFRVLARMVDILACRRVEMLLAANLQSSMAQ   1961 - 2030
LPMEELNRIQEYLQSSGLAQRHQRLYSLLDRFRLSTMQDSLSPSPPVSSHPLDGDGHVSLETVSPDKDWY   2031 - 2100
VHLVKSQCWTRSDSALLEGAELVNRIPAEDMNAFMMNSEFNLSLLAPCLSLGMSEISGGQKSALFEAARE   2101 - 2170
VTLARVSGTVQQLPAVHHVFQPELPAEPAAYWSKLNDLFGDAALYQSLPTLARALAQYLVVVSKLPSHLH   2171 - 2240
LPPEKEKDIVKFVVATLEALSWHLIHEQIPLSLDLQAGLDCCCLALQLPGLWSVVSSTEFVTHACSLIYC   2241 - 2310
VHFILEAVAVQPGEQLLSPERRTNTPKAISEEEEEVDPNTQNPKYITAACEMVAEMVESLQSVLALGHKR   2311 - 2380
NSGVPAFLTPLLRNIIISLARLPLVNSYTRVPPLVWKLGWSPKPGGDFGTAFPEIPVEFLQEKEVFKEFI   2381 - 2450
YRINTLGWTSRTQFEETWATLLGVLVTQPLVMEQEESPPEEDTERTQINVLAVQAITSLVLSAMTVPVAG   2451 - 2520
NPAVSCLEQQPRNKPLKALDTRFGRKLSIIRGIVEQEIQAMVSKRENIATHHLYQAWDPVPSLSPATTGA   2521 - 2590
LISHEKLLLQINPERELGSMSYKLGQVSIHSVWLGNSITPLREEEWDEEEEEEADAPAPSSPPTSPVNSR   2591 - 2660
KHRAGVDIHSCSQFLLELYSRWILPSSSARRTPAILISEVVRSLLVVSDLFTERNQFELMYVTLTELRRV   2661 - 2730
HPSEDEILAQYLVPATCKAAAVLGMDKAVAEPVSRLLESTLRSSHLPSRVGALHGVLYVLECDLLDDTAK   2731 - 2800
QLIPVISDYLLSNLKGIAHCVNIHSQQHVLVMCATAFYLIENYPLDVGPEFSASIIQMCGVMLSGSEEST   2801 - 2870
PSIIYHCALRGLERLLLSEQLSRLDAESLVKLSVDRVNVHSPHRAMAALGLMLTCMYTGKEKVSPGRTSD   2871 - 2940
PNPAAPDSESVIVAMERVSVLFDRIRKGFPCEARVVARILPQFLDDFFPPQDIMNKVIGEFLSNQQPYPQ   2941 - 3010
FMATVVYKVFQTLHSTGQSSMVRDWVMLSLSNFTQRAPVAMATWSLSCFFVSASTSPWVAAILPHVISRM   3011 - 3080
GKLEQVDVNLFCLVATDFYRHQIEEELDRRAFQSVLEVVAAPGSPYHRLLTCLRNVHKVTTC           3081 - 3142
//

Text Mined References (495)

PMID Year Title
27002149 2016 An Intein-based Strategy for the Production of Tag-free Huntingtin Exon 1 Proteins Enables New Insights into the Polyglutamine Dependence of Httex1 Aggregation and Fibril Formation.
26863614 2016 Dominant-Negative Effects of Adult-Onset Huntingtin Mutations Alter the Division of Human Embryonic Stem Cells-Derived Neural Cells.
26808260 2016 Cytoplasmic Ubiquitin-Specific Protease 19 (USP19) Modulates Aggregation of Polyglutamine-Expanded Ataxin-3 and Huntingtin through the HSP90 Chaperone.
26652744 2016 Cholesterol Modifies Huntingtin Binding to, Disruption of, and Aggregation on Lipid Membranes.
26586297 2015 Multidrug resistance protein 1 reduces the aggregation of mutant huntingtin in neuronal cells derived from the Huntington's disease R6/2 model.
26540094 2015 Blocking the association of HDAC4 with MAP1S accelerates autophagy clearance of mutant Huntingtin.
26529236 2015 Mutant Huntingtin Does Not Affect the Intrinsic Phenotype of Human Huntington's Disease T Lymphocytes.
26496077 2015 Evidence of Extensive Alternative Splicing in Post Mortem Human Brain HTT Transcription by mRNA Sequencing.
26450664 2015 Conformational switch of polyglutamine-expanded huntingtin into benign aggregates leads to neuroprotective effect.
26436900 2015 Human mutant huntingtin disrupts vocal learning in transgenic songbirds.
26369532 2015 Computational investigation of molecular mechanism and neuropathological implications in Huntington disease.
26333261 2015 Clinical and Molecular Features of Late Onset Huntington Disease in a Peruvian Cohort.
26293574 2015 Unraveling the Role of Huntingtin in Breast Cancer Metastasis.
26264729 2016 17?-Estradiol modulates huntingtin levels in rat tissues and in human neuroblastoma cell line.
26218986 2015 Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65.
26198635 2015 Identification of a Novel Sequence Motif Recognized by the Ankyrin Repeat Domain of zDHHC17/13 S-Acyltransferases.
26165689 2015 Huntingtin proteolysis releases non-polyQ fragments that cause toxicity through dynamin 1 dysregulation.
26106822 2015 Detection of huntingtin exon 1 phosphorylation by Phos-Tag SDS-PAGE: Predominant phosphorylation on threonine 3 and regulation by IKK?.
26020223 2015 Solid-State Nuclear Magnetic Resonance on the Static and Dynamic Domains of Huntingtin Exon-1 Fibrils.
26010866 2015 Discovery of novel isoforms of huntingtin reveals a new hominid-specific exon.
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
26001312 2015 The choreography of neuroinflammation in Huntington's disease.
25995452 2015 Structural Mechanisms of Mutant Huntingtin Aggregation Suppression by the Synthetic Chaperonin-like CCT5 Complex Explained by Cryoelectron Tomography.
25938884 2015 A SNP in the HTT promoter alters NF-?B binding and is a bidirectional genetic modifier of Huntington disease.
25866151 2015 Cerebrovascular and blood-brain barrier impairments in Huntington's disease: Potential implications for its pathophysiology.
25849918 2015 Aberrant palmitoylation in Huntington disease.
25773959 2015 Complex interplay between the length and composition of the huntingtin-derived peptides modulates the intracellular behavior of the N-terminal fragments of mutant huntingtin.
25736541 2015 Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology.
25726852 2015 Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.
25686248 2015 Huntingtin functions as a scaffold for selective macroautophagy.
25558820 2015 Defining neurodegeneration on Guam by targeted genomic sequencing.
25540325 2014 Targeting ATM ameliorates mutant Huntingtin toxicity in cell and animal models of Huntington's disease.
25464275 2014 Polyglutamine- and temperature-dependent conformational rigidity in mutant huntingtin revealed by immunoassays and circular dichroism spectroscopy.
25464109 2015 A new mutation for Huntington disease following maternal transmission of an intermediate allele.
25452431 2015 ?-Synuclein modifies mutant huntingtin aggregation and neurotoxicity in Drosophila.
25446099 2015 Chaperone protein HYPK interacts with the first 17 amino acid region of Huntingtin and modulates mutant HTT-mediated aggregation and cytotoxicity.
25416977 2015 Molecular genetics of Huntington's disease.
25398943 2015 Disruption of the nuclear membrane by perinuclear inclusions of mutant huntingtin causes cell-cycle re-entry and striatal cell death in mouse and cell models of Huntington's disease.
25380582 2015 Factors influencing the clinical expression of intermediate CAG repeat length mutations of the Huntington's disease gene.
25380050 2014 Differential effect of HDAC3 on cytoplasmic and nuclear huntingtin aggregates.
25351248 2014 Huntingtin promotes mTORC1 signaling in the pathogenesis of Huntington's disease.
25271967 2014 Effects of deletion of mutant huntingtin in steroidogenic factor 1 neurons on the psychiatric and metabolic phenotype in the BACHD mouse model of Huntington disease.
25205111 2015 A huntingtin-mediated fast stress response halting endosomal trafficking is defective in Huntington's disease.
25143394 2015 Mutant huntingtin alters Tau phosphorylation and subcellular distribution.
25131594 2014 Spontaneous self-assembly of pathogenic huntingtin exon 1 protein into amyloid structures.
25092318 2014 Prion-like proteins sequester and suppress the toxicity of huntingtin exon 1.
25062733 2013 Increased Steady-State Mutant Huntingtin mRNA in Huntington's Disease Brain.
25041730 2014 Mutant huntingtin replaces Gab1 and interacts with C-terminal SH3 domain of growth factor receptor binding protein 2 (Grb2).
25017010 2014 Transneuronal propagation of mutant huntingtin contributes to non-cell autonomous pathology in neurons.
24998512 2014 TR-FRET assays of Huntingtin protein fragments reveal temperature and polyQ length-dependent conformational changes.
24836077 2014 Inhibition of mitochondrial protein import by mutant huntingtin.
24819723 2014 Fluorescence anisotropy uncovers changes in protein packing with inclusion growth in a cellular model of polyglutamine aggregation.
24798518 2014 Mutant huntingtin is present in neuronal grafts in Huntington disease patients.
24784230 2014 Neuronal targets for reducing mutant huntingtin expression to ameliorate disease in a mouse model of Huntington's disease.
24747660 2015 Novel ethological endophenotypes in a transgenic mouse model of Huntington's disease.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24705354 2014 The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease.
24651384 2014 Identification of binding sites in Huntingtin for the Huntingtin Interacting Proteins HIP14 and HIP14L.
24584051 2014 Mutant Huntingtin promotes autonomous microglia activation via myeloid lineage-determining factors.
24505464 2014 Phosphorylation of mutant huntingtin at serine 116 modulates neuronal toxicity.
24471773 2014 Huntingtin gene CAG repeat numbers in Chinese patients with Huntington's disease and controls.
24459296 2014 Identification of a post-translationally myristoylated autophagy-inducing domain released by caspase cleavage of huntingtin.
24459107 2014 HTT-lowering reverses Huntington's disease immune dysfunction caused by NF?B pathway dysregulation.
24415136 2014 Atomistic mechanisms of huntingtin N-terminal fragment insertion on a phospholipid bilayer revealed by molecular dynamics simulations.
24412394 2014 Autoinhibitory structure of the WW domain of HYPB/SETD2 regulates its interaction with the proline-rich region of huntingtin.
24407293 2014 A large scale Huntingtin protein interaction network implicates Rho GTPase signaling pathways in Huntington disease.
24405192 2015 Founder mutation for Huntington disease in Caucasus Jews.
24377263 2014 Cytotoxicity of mutant huntingtin fragment in yeast can be modulated by the expression level of wild type huntingtin fragment.
24314096 2013 Clinical and genetic features of Huntington disease in Sri Lanka.
24291262 2014 Dynamic recruitment of active proteasomes into polyglutamine initiated inclusion bodies.
24277524 2014 Mutations of the Huntington's disease protein impact on the ATM-dependent signaling and repair pathways of the radiation-induced DNA double-strand breaks: corrective effect of statins and bisphosphonates.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24217578 2013 Soluble forms of polyQ-expanded huntingtin rather than large aggregates cause endoplasmic reticulum stress.
24199621 2013 Role of context in RNA structure: flanking sequences reconfigure CAG motif folding in huntingtin exon 1 transcripts.
24196953 2013 A platform to view huntingtin exon 1 aggregation flux in the cell reveals divergent influences from chaperones hsp40 and hsp70.
24086178 2012 Detection of Mutant Huntingtin Aggregation Conformers and Modulation of SDS-Soluble Fibrillar Oligomers by Small Molecules.
24081492 2013 Synaptic mutant huntingtin inhibits synapsin-1 phosphorylation and causes neurological symptoms.
24054538 2013 Genetic features of Huntington disease in Cuban population: implications for phenotype, epidemiology and predictive testing.
23980182 2013 Huntington disease arises from a combinatory toxicity of polyglutamine and copper binding.
23966247 2013 HTRF analysis of soluble huntingtin in PHAROS PBMCs.
23908352 2013 Expanded polyglutamine-containing N-terminal huntingtin fragments are entirely degraded by mammalian proteasomes.
23898200 2013 Polyglutamine domain flexibility mediates the proximity between flanking sequences in huntingtin.
23853712 2013 TRiC's tricks inhibit huntingtin aggregation.
23774650 2013 Unbiased screen reveals ubiquilin-1 and -2 highly associated with huntingtin inclusions.
23768628 2013 Huntington's disease: underlying molecular mechanisms and emerging concepts.
23624566 2013 Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS.
23583659 2013 The role of Rhes, Ras homolog enriched in striatum, in neurodegenerative processes.
23575829 2013 Mutant Huntingtin alters retrograde transport of TrkB receptors in striatal dendrites.
23443539 2013 Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1-PP2A protein complex.
23370273 Beta conformation of polyglutamine track revealed by a crystal structure of Huntingtin N-terminal region with insertion of three histidine residues.
23339311 2012 Putting huntingtin "aggregation" in view with windows into the cellular milieu.
23319588 2013 An N-terminal nuclear export signal regulates trafficking and aggregation of Huntingtin (Htt) protein exon 1.
23315009 2013 Expression of expanded CAG transcripts triggers nucleolar stress in Huntington's disease.
23305455 2013 Membrane interactions of the amphipathic amino terminus of huntingtin.
23303669 2013 Chaperone-like activity of high-mobility group box 1 protein and its role in reducing the formation of polyglutamine aggregates.
23300147 2013 The Huntington disease protein accelerates breast tumour development and metastasis through ErbB2/HER2 signalling.
23297360 2013 The huntingtin N17 domain is a multifunctional CRM1 and Ran-dependent nuclear and cilial export signal.
23293686 2012 Poly-glutamine expanded huntingtin dramatically alters the genome wide binding of HSF1.
23275563 2013 Development and application of a DNA microarray-based yeast two-hybrid system.
23225006 2012 Fibrillogenesis of huntingtin and other glutamine containing proteins.
23190281 2013 Pathogenic cellular phenotypes are germline transmissible in a transgenic primate model of Huntington's disease.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23160193 2012 Mutant huntingtin impairs immune cell migration in Huntington disease.
23115180 2012 A novel BACHD transgenic rat exhibits characteristic neuropathological features of Huntington disease.
23071649 2012 The role of chaperone-mediated autophagy in huntingtin degradation.
23051704 2012 Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington's disease.
23012356 2012 Identification of a karyopherin ?1/?2 proline-tyrosine nuclear localization signal in huntingtin protein.
22984513 2012 Fragments of HdhQ150 mutant huntingtin form a soluble oligomer pool that declines with aggregate deposition upon aging.
22974559 2013 Mutant huntingtin regulates EGF receptor fate in non-neuronal cells lacking wild-type protein.
22917585 2012 Comparative analyses of Purkinje cell gene expression profiles reveal shared molecular abnormalities in models of different polyglutamine diseases.
22906125 2012 Interrogation of brain miRNA and mRNA expression profiles reveals a molecular regulatory network that is perturbed by mutant huntingtin.
22891683 2012 Calretinin interacts with huntingtin and reduces mutant huntingtin-caused cytotoxicity.
22835334 2012 Replacement of charged and polar residues in the coiled-coiled interface of huntingtin-interacting protein 1 (HIP1) causes aggregation and cell death.
22815947 2012 Promoters are differentially sensitive to N-terminal mutant huntingtin-mediated transcriptional repression.
22801429 2012 Structural features and domain organization of huntingtin fibrils.
22735540 2012 Fibrillar ?-synuclein and huntingtin exon 1 assemblies are toxic to the cells.
22642889 2012 Early cognitive dysfunction in the HD 51 CAG transgenic rat model of Huntington's disease.
22623107 2012 Mass spectrometric identification of novel posttranslational modification sites in Huntingtin.
22580459 2012 Huntingtin protein interactions altered by polyglutamine expansion as determined by quantitative proteomic analysis.
22573320 2012 Sequestration of Sup35 by aggregates of huntingtin fragments causes toxicity of [PSI+] yeast.
22556411 2012 Proteomic analysis of wild-type and mutant huntingtin-associated proteins in mouse brains identifies unique interactions and involvement in protein synthesis.
22511757 2012 Inhibition of lipid signaling enzyme diacylglycerol kinase epsilon attenuates mutant huntingtin toxicity.
22445760 2012 AAV-mediated delivery of the transcription factor XBP1s into the striatum reduces mutant Huntingtin aggregation in a mouse model of Huntington's disease.
22433867 2012 Identification of novel potentially toxic oligomers formed in vitro from mammalian-derived expanded huntingtin exon-1 protein.
22422149 2013 Significantly differential diffusion of neuropathological aggregates in the brain of transgenic mice carrying N-terminal mutant huntingtin fused with green fluorescent protein.
22409360 2012 Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients.
22399227 2012 Sp1 regulates human huntingtin gene expression.
22375012 2012 Native mutant huntingtin in human brain: evidence for prevalence of full-length monomer.
22359536 2012 Characterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study.
22352297 2012 Degradation of mutant huntingtin via the ubiquitin/proteasome system is modulated by FE65.
22337954 2012 Targeting the UPR transcription factor XBP1 protects against Huntington's disease through the regulation of FoxO1 and autophagy.
22306738 2012 Disease-associated polyglutamine stretches in monomeric huntingtin adopt a compact structure.
22306231 2012 Neuronal aggregates are associated with phenotypic onset in the R6/2 Huntington's disease transgenic mouse.
22235343 2012 Variation within the Huntington's disease gene influences normal brain structure.
22234237 2012 Truncated N-terminal huntingtin fragment with expanded-polyglutamine (htt552-100Q) suppresses brain-derived neurotrophic factor transcription in astrocytes.
22219281 2012 Transgenic mouse model expressing the caspase 6 fragment of mutant huntingtin.
22179316 2011 Sirt1 mediates neuroprotection from mutant huntingtin by activation of the TORC1 and CREB transcriptional pathway.
22178478 2012 Inhibiting the nucleation of amyloid structure in a huntingtin fragment by targeting ?-helix-rich oligomeric intermediates.
22178474 2012 Slow amyloid nucleation via ?-helix-rich oligomeric intermediates in short polyglutamine-containing huntingtin fragments.
22162197 2012 Intergenerational instability in Huntington disease: extreme repeat changes among 134 transmissions.
22123826 2012 A screen for enhancers of clearance identifies huntingtin as a heat shock protein 90 (Hsp90) client protein.
22119730 2012 ?-Synuclein modifies huntingtin aggregation in living cells.
22110140 2012 Prothymosin-? interacts with mutant huntingtin and suppresses its cytotoxicity in cell culture.
22103299 2012 Palmitoylation and trafficking of GAD65 are impaired in a cellular model of Huntington's disease.
22101303 2012 Memory deficits in the transgenic rat model of Huntington's disease.
22100810 2011 Premutation huntingtin allele adopts a non-B conformation and contains a hot spot for DNA damage.
22072510 2012 A critical window of CAG repeat-length correlates with phenotype severity in the R6/2 mouse model of Huntington's disease.
22048026 Micro RNA -214,-150,-146a and-125b target Huntingtin gene.
22011578 2011 Ser46 phosphorylation and prolyl-isomerase Pin1-mediated isomerization of p53 are key events in p53-dependent apoptosis induced by mutant huntingtin.
21997870 2012 Mutant huntingtin's interaction with mitochondrial protein Drp1 impairs mitochondrial biogenesis and causes defective axonal transport and synaptic degeneration in Huntington's disease.
21985783 2011 Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease.
21984825 2011 In vitro and in vivo aggregation of a fragment of huntingtin protein directly causes free radical production.
21983719 2011 [Clinical characteristics and genetic mutation analysis in a Hui family with Huntington disease].
21971427 2011 Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin.
21968397 2011 A disulfide-free single-domain V(L) intrabody with blocking activity towards huntingtin reveals a novel mode of epitope recognition.
21954231 2012 IRE1 plays an essential role in ER stress-mediated aggregation of mutant huntingtin via the inhibition of autophagy flux.
21896647 2011 Changes in BiP availability reveal hypersensitivity to acute endoplasmic reticulum stress in cells expressing mutant huntingtin.
21889981 2012 Viral-mediated overexpression of mutant huntingtin to model HD in various species.
21889504 2011 Conformations of the Huntingtin N-term in aqueous solution from atomistic simulations.
21887328 2011 Regulation of miR-146a by RelA/NFkB and p53 in STHdh(Q111)/Hdh(Q111) cells, a cell model of Huntington's disease.
21875723 2012 CCG polymorphisms in the huntingtin gene have no effect on the pathogenesis of patients with Huntington's disease in mainland Chinese families.
21685499 2011 Mass spectrometric identification of novel lysine acetylation sites in huntingtin.
21566141 2011 Interaction with polyglutamine-expanded huntingtin alters cellular distribution and RNA processing of huntingtin yeast two-hybrid protein A (HYPA).
21562226 2011 Dictyostelium huntingtin controls chemotaxis and cytokinesis through the regulation of myosin II phosphorylation.
21540131 Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease.
21519949 2011 Genotype-, aging-dependent abnormal caspase activity in Huntington disease blood cells.
21518730 2011 Huntingtin affinity for partners is not changed by polyglutamine length: aggregation itself triggers aberrant interactions.
21515588 2011 Transgenic mice expressing caspase-6-derived N-terminal fragments of mutant huntingtin develop neurologic abnormalities with predominant cytoplasmic inclusion pathology composed largely of a smaller proteolytic derivative.
21509658 2011 Essential sequence of the N-terminal cytoplasmic localization-related domain of huntingtin and its effect on huntingtin aggregates.
21501628 2011 A ketogenic diet delays weight loss and does not impair working memory or motor function in the R6/2 1J mouse model of Huntington's disease.
21482444 2012 Activated microglia proliferate at neurites of mutant huntingtin-expressing neurons.
21465263 2011 Modifications of p53 and the DNA damage response in cells expressing mutant form of the protein huntingtin.
21458571 2011 Natural history of disease in the YAC128 mouse reveals a discrete signature of pathology in Huntington disease.
21454471 2011 Tumor necrosis factor receptor-associated factor 6 (TRAF6) associates with huntingtin protein and promotes its atypical ubiquitination to enhance aggregate formation.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21364626 2010 Mutant Huntingtin induces activation of the Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3).
21336284 2011 Mutant huntingtin binds the mitochondrial fission GTPase dynamin-related protein-1 and increases its enzymatic activity.
21322024 2011 The number of CAG repeats within the normal allele does not influence the age of onset in Huntington's disease.
21320997 2011 Validation of plasma branched chain amino acids as biomarkers in Huntington disease.
21315254 2011 Huntington's disease: can mice lead the way to treatment?
21310951 2011 Cysteine proteases bleomycin hydrolase and cathepsin Z mediate N-terminal proteolysis and toxicity of mutant huntingtin.
21280221 2011 In silico discovery and experimental validation of new protein-protein interactions.
21269460 2011 Initial characterization of the human central proteome.
21257639 2011 Abnormal mitochondrial dynamics, mitochondrial loss and mutant huntingtin oligomers in Huntington's disease: implications for selective neuronal damage.
21248742 2011 HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia.
21245084 2011 Preferential accumulation of N-terminal mutant huntingtin in the nuclei of striatal neurons is regulated by phosphorylation.
21209075 2011 A compact beta model of huntingtin toxicity.
21192926 2011 Longitudinal behavioral, cross-sectional transcriptional and histopathological characterization of a knock-in mouse model of Huntington's disease with 140 CAG repeats.
21177255 2011 In vivo cell-autonomous transcriptional abnormalities revealed in mice expressing mutant huntingtin in striatal but not cortical neurons.
21169558 2011 Huntingtin coordinates the dynein-mediated dynamic positioning of endosomes and lysosomes.
21147489 2011 The neurology and natural history of patients with indeterminate CAG repeat length mutations of the Huntington disease gene.
21087194 2010 Selection of behaviors and segmental coordination during larval locomotion is disrupted by nuclear polyglutamine inclusions in a new Drosophila Huntington's disease-like model.
21044956 2011 Functional gene expression profiling in yeast implicates translational dysfunction in mutant huntingtin toxicity.
20875859 2011 Altered adult hippocampal neurogenesis in the YAC128 transgenic mouse model of Huntington disease.
20864533 2010 Hsp70 and Hsp40 functionally interact with soluble mutant huntingtin oligomers in a classic ATP-dependent reaction cycle.
20864123 2010 Evidence for a predisposing background for CAG expansion leading to HTT mutation in a Chinese population.
20858895 2010 Mutant huntingtin alters cell fate in response to microtubule depolymerization via the GEF-H1-RhoA-ERK pathway.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20710011 2010 Systemic energy homeostasis in Huntington's disease patients.
20708032 2010 The therapeutic potential of G-protein coupled receptors in Huntington's disease.
20696378 2010 Huntingtin is required for mitotic spindle orientation and mammalian neurogenesis.
20531388 2010 Mutant huntingtin-impaired degradation of beta-catenin causes neurotoxicity in Huntington's disease.
20515468 2010 pARIS-htt: an optimised expression platform to study huntingtin reveals functional domains required for vesicular trafficking.
20494921 2010 In vivo expression of polyglutamine-expanded huntingtin by mouse striatal astrocytes impairs glutamate transport: a correlation with Huntington's disease subjects.
20444706 2010 Tracking mutant huntingtin aggregation kinetics in cells reveals three major populations that include an invariant oligomer pool.
20417604 2010 The selective macroautophagic degradation of aggregated proteins requires the PI3P-binding protein Alfy.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20360314 2010 Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder.
20232225 2010 Downregulation of NF-kappaB signaling by mutant huntingtin proteins induces oxidative stress and cell death.
20204693 2010 The evolutionarily conserved interaction between LC3 and p62 selectively mediates autophagy-dependent degradation of mutant huntingtin.
20154145 2010 The chaperone-like protein HYPK acts together with NatA in cotranslational N-terminal acetylation and prevention of Huntingtin aggregation.
20145253 2010 Mutant huntingtin in glial cells exacerbates neurological symptoms of Huntington disease mice.
20140226 2010 F-actin binding regions on the androgen receptor and huntingtin increase aggregation and alter aggregate characteristics.
20126661 2010 Huntingtin interacts with the cue domain of gp78 and inhibits gp78 binding to ubiquitin and p97/VCP.
20097678 2010 Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20064390 2009 Serines 13 and 16 are critical determinants of full-length human mutant huntingtin induced disease pathogenesis in HD mice.
20056037 2010 Evaluation of IP-RP-HPLC for length determination of the trinucleotide repeat fragments in Huntington's disease.
20026071 2010 Modulation of polyglutamine conformations and dimer formation by the N-terminus of huntingtin.
20018729 2009 Expression of mutant huntingtin in mouse brain astrocytes causes age-dependent neurological symptoms.
20016831 2009 Dopamine D2 receptor stimulation potentiates PolyQ-Huntingtin-induced mouse striatal neuron dysfunctions via Rho/ROCK-II activation.
20016493 2010 Protein folding: sticky N17 speeds huntingtin pile-up.
19969308 2010 alpha Pix enhances mutant huntingtin aggregation.
19933700 2010 Huntingtin facilitates polycomb repressive complex 2.
19916101 2010 A double blind evaluation of cognitive decline in a Norwegian cohort of asymptomatic carriers of Huntington's disease.
19915590 2009 The chaperonin TRiC blocks a huntingtin sequence element that promotes the conformational switch to aggregation.
19776381 2009 Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease.
19752198 2009 Mutant huntingtin impairs vesicle formation from recycling endosomes by interfering with Rab11 activity.
19748341 2009 Secondary structure of Huntingtin amino-terminal region.
19726651 2009 Interaction of postsynaptic density protein-95 with NMDA receptors influences excitotoxicity in the yeast artificial chromosome mouse model of Huntington's disease.
19710014 2009 Phosphorylation of threonine 3: implications for Huntingtin aggregation and neurotoxicity.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19667213 2009 Progress and challenges in RNA interference therapy for Huntington disease.
19661690 2009 HSP40 ameliorates impairment of insulin secretion by inhibiting huntingtin aggregation in a HD pancreatic beta cell model.
19628478 2009 Mutant huntingtin interacts with {beta}-tubulin and disrupts vesicular transport and insulin secretion.
19566678 2009 Polyglutamine expansion in huntingtin alters its interaction with phospholipids.
19525941 2009 Pathogenic huntingtin inhibits fast axonal transport by activating JNK3 and phosphorylating kinesin.
19498170 2009 Rhes, a striatal specific protein, mediates mutant-huntingtin cytotoxicity.
19492089 2009 Conformational targeting of fibrillar polyglutamine proteins in live cells escalates aggregation and cytotoxicity.
19488402 2009 IKKalpha and IKKbeta regulation of DNA damage-induced cleavage of huntingtin.
19451134 2009 Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19386911 2009 Cross-seeding fibrillation of Q/N-rich proteins offers new pathomechanism of polyglutamine diseases.
19361448 2009 The predicted structure of the headpiece of the Huntingtin protein and its implications on Huntingtin aggregation.
19289118 2009 A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference.
19270701 2009 Polyglutamine disruption of the huntingtin exon 1 N terminus triggers a complex aggregation mechanism.
19270310 2009 Regulator of calcineurin (RCAN1-1L) is deficient in Huntington disease and protective against mutant huntingtin toxicity in vitro.
19268537 2009 Live axonal transport disruption by mutant huntingtin fragments in Drosophila motor neuron axons.
19266143 2009 Relationship between CAG repeat length and brain volume in premanifest and early Huntington's disease.
19250382 2009 4p16.3 haplotype modifying age at onset of Huntington disease.
19249009 2009 CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup.
19240112 2009 Huntingtin promotes cell survival by preventing Pak2 cleavage.
19240033 2009 SCAMP5 links endoplasmic reticulum stress to the accumulation of expanded polyglutamine protein aggregates via endocytosis inhibition.
19204007 2009 Mutant huntingtin N-terminal fragments of specific size mediate aggregation and toxicity in neuronal cells.
19196932 2008 Neuropsychological deficits in Huntington's disease gene carriers and correlates of early "conversion".
19133136 2009 The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease.
19130884 2009 Paradoxical delay in the onset of disease caused by super-long CAG repeat expansions in R6/2 mice.
19115052 2009 Common variations in 4p locus are related to male completed suicide.
19059613 2009 Huntington disease in subjects from an Israeli Karaite community carrying alleles of intermediate and expanded CAG repeats in the HTT gene: Huntington disease or phenocopy?
19039036 2009 Effects of overexpression of huntingtin proteins on mitochondrial integrity.
19027857 2009 CAG repeat lengths > or =335 attenuate the phenotype in the R6/2 Huntington's disease transgenic mouse.
19026253 2008 Cross-sectional study on prevalences of psychiatric disorders in mutation carriers of Huntington's disease compared with mutation-negative first-degree relatives.
19018245 2008 Colocalization of transactivation-responsive DNA-binding protein 43 and huntingtin in inclusions of Huntington disease.
18992820 2009 Phosphorylation of huntingtin reduces the accumulation of its nuclear fragments.
18981372 2008 Weight loss in Huntington disease increases with higher CAG repeat number.
18922795 2008 Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting LIM domain protein (RILP) and dynactin p150 Glued.
18831068 2009 DNA breakage and induction of DNA damage response proteins precede the appearance of visible mutant huntingtin aggregates.
18772195 2008 Phosphorylation of mutant huntingtin at S421 restores anterograde and retrograde transport in neurons.
18718937 2008 Protective role of Engrailed in a Drosophila model of Huntington's disease.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18651325 Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.
18649400 2008 Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.
18640989 2008 Compensatory changes in the ubiquitin-proteasome system, brain-derived neurotrophic factor and mitochondrial complex II/III in YAC72 and R6/2 transgenic mice partially model Huntington's disease patients.
18632688 2008 Neocortical expression of mutant huntingtin is not required for alterations in striatal gene expression or motor dysfunction in a transgenic mouse.
18615096 2008 Huntingtin phosphorylation acts as a molecular switch for anterograde/retrograde transport in neurons.
18586675 2008 A common motif targets huntingtin and the androgen receptor to the proteasome.
18573880 2008 Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation.
18558632 2008 Accumulation of N-terminal mutant huntingtin in mouse and monkey models implicated as a pathogenic mechanism in Huntington's disease.
18504298 2008 Suppression of neuropil aggregates and neurological symptoms by an intracellular antibody implicates the cytoplasmic toxicity of mutant huntingtin.
18445618 2008 Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus.
18400894 2008 Altered histone monoubiquitylation mediated by mutant huntingtin induces transcriptional dysregulation.
18380890 2008 Wheel running from a juvenile age delays onset of specific motor deficits but does not alter protein aggregate density in a mouse model of Huntington's disease.
18337408 2008 N-terminal mutant huntingtin associates with mitochondria and impairs mitochondrial trafficking.
18267960 2008 Dopamine determines the vulnerability of striatal neurons to the N-terminal fragment of mutant huntingtin through the regulation of mitochondrial complex II.
18255062 2008 Inhibition of endoplasmic reticulum stress counteracts neuronal cell death and protein aggregation caused by N-terminal mutant huntingtin proteins.
18192679 2008 Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease.
18166084 2007 dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1.
18157708 2008 Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation.
18091069 2007 Are cognitive changes progressive in prediagnostic HD?
18088087 2008 Phosphoproteome of resting human platelets.
18078716 2008 14-3-3zeta is indispensable for aggregate formation of polyglutamine-expanded huntingtin protein.
18068007 2008 Analysis of CCG repeats in Huntingtin gene among HD patients and normal populations in Japan.
18065495 2008 p21-activated kinase 1 promotes soluble mutant huntingtin self-interaction and enhances toxicity.
18063376 2008 Disruption of striatal glutamatergic transmission induced by mutant huntingtin involves remodeling of both postsynaptic density and NMDA receptor signaling.
18029446 2008 Mitogen- and stress-activated protein kinase-1 deficiency is involved in expanded-huntingtin-induced transcriptional dysregulation and striatal death.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
18006506 2008 HspB8 chaperone activity toward poly(Q)-containing proteins depends on its association with Bag3, a stimulator of macroautophagy.
17989880 2007 Sequestration of glyceraldehyde-3-phosphate dehydrogenase to aggregates formed by mutant huntingtin.
17975550 2008 Mutant huntingtin can paradoxically protect neurons from death.
17952586 2007 Huntington's disease and mitochondrial DNA deletions: event or regular mechanism for mutant huntingtin protein and CAG repeats expansion?!
17948889 2007 R6/2 neurons with intranuclear inclusions survive for prolonged periods in the brains of chimeric mice.
17947297 2008 HYPK, a Huntingtin interacting protein, reduces aggregates and apoptosis induced by N-terminal Huntingtin with 40 glutamines in Neuro2a cells and exhibits chaperone-like activity.
17941857 2007 Cognitive changes in asymptomatic carriers of the Huntington disease mutation gene.
17902043 2007 Increased caspase-2, calpain activations and decreased mitochondrial complex II activity in cells expressing exogenous huntingtin exon 1 containing CAG repeat in the pathogenic range.
17708681 2007 Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism.
17704510 2007 Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity.
17687393 2007 Intergeneration CAG expansion in a Wuhan juvenile-onset Huntington disease family.
17660463 2007 Factors associated with HD CAG repeat instability in Huntington disease.
17611284 2007 Phosphorylation of huntingtin by cyclin-dependent kinase 5 is induced by DNA damage and regulates wild-type and mutant huntingtin toxicity in neurons.
17610899 2008 Effect of CAG repeat length on psychiatric disorders in Huntington's disease.
17548833 2007 Huntingtin facilitates dynein/dynactin-mediated vesicle transport.
17519223 2007 Mutant huntingtin's effects on striatal gene expression in mice recapitulate changes observed in human Huntington's disease brain and do not differ with mutant huntingtin length or wild-type huntingtin dosage.
17500595 2007 Huntingtin interacting proteins are genetic modifiers of neurodegeneration.
17433700 2007 Testicular degeneration in Huntington disease.
17409200 2007 Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain.
17403029 2007 Type 2 transglutaminase differentially modulates striatal cell death in the presence of wild type or mutant huntingtin.
17361007 2007 Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study.
17299753 2007 Cellular and subcellular localization of Huntingtin [corrected] aggregates in the brain of a rat transgenic for Huntington disease.
17276991 2007 Ubiquitin-interacting motifs inhibit aggregation of polyQ-expanded huntingtin.
17240517 2007 Nucleocytoplasmic trafficking and transcription effects of huntingtin in Huntington's disease.
17208201 2007 Aggregate-centered redistribution of proteins by mutant huntingtin.
17201528 2007 Early cognitive deficits in Swedish gene carriers of Huntington's disease.
17189290 2007 Wild-type huntingtin participates in protein trafficking between the Golgi and the extracellular space.
17161366 2006 Structural insights into the specific binding of huntingtin proline-rich region with the SH3 and WW domains.
17151278 2006 Mutant huntingtin impairs the post-Golgi trafficking of brain-derived neurotrophic factor but not its Val66Met polymorphism.
17141218 2007 Ubiquitin ligase Hrd1 enhances the degradation and suppresses the toxicity of polyglutamine-expanded huntingtin.
17135277 2007 The first 17 amino acids of Huntingtin modulate its sub-cellular localization, aggregation and effects on calcium homeostasis.
17126554 2007 Cardiac dysfunction in the R6/2 mouse model of Huntington's disease.
17124493 2006 Huntingtin inhibits caspase-3 activation.
17115386 2007 Autopsy-proven Huntington's disease with 29 trinucleotide repeats.
17098699 2006 [IT15 gene analysis in two pedigrees of Huntington's disease].
17012230 2006 Context-dependent dysregulation of transcription by mutant huntingtin.
16973623 2006 Mutant huntingtin expression induces mitochondrial calcium handling defects in clonal striatal cells: functional consequences.
16968735 2006 Cytotoxicity of a mutant huntingtin fragment in yeast involves early alterations in mitochondrial OXPHOS complexes II and III.
16835690 2006 Huntingtin interacts with the receptor sorting family protein GASP2.
16782707 2006 Huntingtin phosphorylation sites mapped by mass spectrometry. Modulation of cleavage and toxicity.
16777606 2006 Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin.
16729030 2006 Increased apoptosis, Huntingtin inclusions and altered differentiation in muscle cell cultures from Huntington's disease subjects.
16606912 2006 The association of CAG repeat length with clinical progression in Huntington disease.
16595690 2006 Expression and characterization of full-length human huntingtin, an elongated HEAT repeat protein.
16522639 2006 Regulation of intracellular accumulation of mutant Huntingtin by Beclin 1.
16473015 2006 Mutant huntingtin aggregates impair mitochondrial movement and trafficking in cortical neurons.
16452635 2006 Involvement of mitochondrial complex II defects in neuronal death produced by N-terminus fragment of mutated huntingtin.
16417581 2006 Wild-type huntingtin protects neurons from excitotoxicity.
16391387 2005 Interaction of the nuclear matrix protein NAKAP with HypA and huntingtin: implications for nuclear toxicity in Huntington's disease pathogenesis.
16365166 2005 Expression of mutant huntingtin in glial cells contributes to neuronal excitotoxicity.
16324236 Caudate nucleus atrophy in Huntington's disease and its relationship with clinical and genetic parameters.
16286508 2005 p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death.
16278683 2006 p53 tumor suppressor protein regulates the levels of huntingtin gene expression.
16204350 2005 Overexpression of yeast hsp104 reduces polyglutamine aggregation and prolongs survival of a transgenic mouse model of Huntington's disease.
16192271 2005 HDAC6 and microtubules are required for autophagic degradation of aggregated huntingtin.
16183657 2005 Contribution of nuclear and extranuclear polyQ to neurological phenotypes in mouse models of Huntington's disease.
16162412 2005 Crosstalk between huntingtin and syntaxin 1A regulates N-type calcium channels.
16115812 2005 HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.
16115810 2005 Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways.
16085648 2005 Huntingtin associates with acidic phospholipids at the plasma membrane.
16006135 2005 Progressive and selective striatal degeneration in primary neuronal cultures using lentiviral vector coding for a mutant huntingtin fragment.
15994095 2005 Mutant huntingtin represses CBP, but not p300, by binding and protein degradation.
15951191 2005 Reduced hippocampal neurogenesis in R6/2 transgenic Huntington's disease mice.
15916486 2005 Adenovirus-mediated silencing of huntingtin expression by shRNA.
15911879 2005 Cdk5 phosphorylation of huntingtin reduces its cleavage by caspases: implications for mutant huntingtin toxicity.
15890517 2005 Huntingtin is cleaved by caspases in the cytoplasm and translocated to the nucleus via perinuclear sites in Huntington's disease patient lymphoblasts.
15843398 2005 Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo.
15837803 2005 Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis.
15832309 2005 Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15809304 2005 Phosphorylation of arfaptin 2 at Ser260 by Akt Inhibits PolyQ-huntingtin-induced toxicity by rescuing proteasome impairment.
15717026 2004 Huntington's disease genetics.
15716522 2005 Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing.
15689617 2005 cAMP-response element-binding protein contributes to suppression of the A2A adenosine receptor promoter by mutant Huntingtin with expanded polyglutamine residues.
15654337 2005 Polyglutamine expansion of huntingtin impairs its nuclear export.
15610167 2004 Mutant huntingtin affects the rate of transcription of striatum-specific isoforms of phosphodiesterase 10A.
15603740 2004 Huntingtin-interacting protein HIP14 is a palmitoyl transferase involved in palmitoylation and trafficking of multiple neuronal proteins.
15496672 2004 Biochemical, ultrastructural, and reversibility studies on huntingtin filaments isolated from mouse and human brain.
15468075 2004 Huntington's Disease-like 2 (HDL2) in North America and Japan.
15383276 2004 A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease.
15359012 2004 Huntingtin and its role in neuronal degeneration.
15351733 2004 Double-stranded siRNA targeted to the huntingtin gene does not induce DNA methylation.
15340079 2004 Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitro.
15338298 2004 Early onset Huntington disease: a neuronal degeneration syndrome.
15316797 2004 Cognitive changes in patients with Huntington's disease (HD) and asymptomatic carriers of the HD mutation--a longitudinal follow-up study.
15312898 2004 Expanded huntingtin activates the c-Jun terminal kinase/c-Jun pathway prior to aggregate formation in striatal neurons in culture.
15273431 2004 DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients.
15261377 2004 Huntington's disease: how does huntingtin, an anti-apoptotic protein, become toxic?
15240759 2004 Enhanced striatal NR2B-containing N-methyl-D-aspartate receptor-mediated synaptic currents in a mouse model of Huntington disease.
15163634 2004 Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release.
15140196 2004 Distinct aggregation and cell death patterns among different types of primary neurons induced by mutant huntingtin protein.
15140195 2004 Modulating huntingtin half-life alters polyglutamine-dependent aggregate formation and cell toxicity.
15064418 2004 SUMO modification of Huntingtin and Huntington's disease pathology.
15032971 2004 Predictive testing for Huntington's disease: relationship with partners after testing.
14985437 2004 Calmodulin regulates transglutaminase 2 cross-linking of huntingtin.
14978262 2004 Cytoplasmic aggregates trap polyglutamine-containing proteins and block axonal transport in a Drosophila model of Huntington's disease.
14743370 2004 Adverse effects of dopamine potentiation by long-term treatment with selegiline.
14714490 [Analysis of polymorphic loci of Huntington genes in peoples from the Volga-Ural region].
14657499 2003 Yeast genes that enhance the toxicity of a mutant huntingtin fragment or alpha-synuclein.
14617779 2003 Differential hydrophobicity drives self-assembly in Huntington's disease.
14572927 2004 Predictive genetic test decisions for Huntington's disease: context, appraisal and new moral imperatives.
14570907 2003 Cysteine string protein (CSP) inhibition of N-type calcium channels is blocked by mutant huntingtin.
14570710 2003 Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis.
14527999 2003 Microtubule destabilization and nuclear entry are sequential steps leading to toxicity in Huntington's disease.
12956863 2003 Molecular analysis of Huntington's disease and linked polymorphisms in the Indian population.
12952868 2003 Early and reversible neuropathology induced by tetracycline-regulated lentiviral overexpression of mutant huntingtin in rat striatum.
12873381 2003 Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1.
12824708 2003 DNA testing for Huntington disease in the Turkish population.
12810713 2003 Expression of polyglutamine-expanded huntingtin induces tyrosine phosphorylation of N-methyl-D-aspartate receptors.
12807877 2003 Expression of mutant huntingtin blocks exocytosis in PC12 cells by depletion of complexin II.
12799135 2003 Mutant huntingtin increases nuclear corepressor function and enhances ligand-dependent nuclear hormone receptor activation.
12784292 2003 Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease.
12783847 2003 Huntingtin contains a highly conserved nuclear export signal.
12682342 2003 Early Huntington disease prenatal diagnosis by maternal semiquantitative fluorescent-PCR.
12657678 2003 Mutant huntingtin causes context-dependent neurodegeneration in mice with Huntington's disease.
12604778 2003 Cdc42-interacting protein 4 binds to huntingtin: neuropathologic and biological evidence for a role in Huntington's disease.
12569151 2003 Huntingtin in health and disease.
12555240 2003 Testing the test--why pursue a better test for Huntington disease?
12548366 2002 CAG mutation effect on rate of progression in Huntington's disease.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12466534 2002 An upstream open reading frame impedes translation of the huntingtin gene.
12427879 2002 Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias.
12393793 2002 HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis.
12393306 Evaluation of psychological symptoms among presymptomatic HD gene carriers as measured by selected MMPI scales.
12379151 2002 The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor.
12354780 2002 PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains.
12354289 2002 Inhibition of tryptophan hydroxylase activity and decreased 5-HT1A receptor binding in a mouse model of Huntington's disease.
12204002 2002 Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, and Delta2642 (E2642del) polymorphisms.
12191472 2002 Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions.
12135980 2002 Impaired glutamate transport and glutamate-glutamine cycling: downstream effects of the Huntington mutation.
12062094 2002 The IGF-1/Akt pathway is neuroprotective in Huntington's disease and involves Huntingtin phosphorylation by Akt.
11988536 2002 Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease.
11973620 2002 Predictive DNA-testing for Huntington's disease and reproductive decision making: a European collaborative study.
11971872 2002 Huntingtin inclusions do not deplete polyglutamine-containing transcription factors in HD mice.
11939977 2002 Psychiatric symptoms in neurologically asymptomatic Huntington's disease gene carriers: a comparison with gene negative at risk subjects.
11906693 2002 Increased sensitivity to N-methyl-D-aspartate receptor-mediated excitotoxicity in a mouse model of Huntington's disease.
11870213 2002 Perinuclear localization of huntingtin as a consequence of its binding to microtubules through an interaction with beta-tubulin: relevance to Huntington's disease.
11854752 2002 Arfaptin 2 regulates the aggregation of mutant huntingtin protein.
11839795 2002 Interaction of Huntington disease protein with transcriptional activator Sp1.
11807410 2001 Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?
11788820 2002 Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi.
11745989 2001 Psychological impact of news of genetic risk for Huntington disease.
11739372 2002 Huntingtin is present in the nucleus, interacts with the transcriptional corepressor C-terminal binding protein, and represses transcription.
11738012 2001 [Results of a program of presymptomatic diagnosis of Huntington's disease: evaluation of a 6 year period].
11595021 2001 High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia.
11487199 2001 Presymptomatic tests in Huntington's disease and dominant ataxias.
11461154 2001 Identification of the full-length huntingtin- interacting protein p231HBP/HYPB as a DNA-binding factor.
11442349 2001 Tissue transglutaminase selectively modifies proteins associated with truncated mutant huntingtin in intact cells.
11432963 2001 Wild type Huntingtin reduces the cellular toxicity of mutant Huntingtin in mammalian cell models of Huntington's disease.
11379408 2001 Trinucleotide repeat analysis of Huntington's disease gene in Singapore.
11264541 2001 Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity.
11172033 2001 The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis.
11149616 2000 Polymorphisms in the CAG repeat--a source of error in Huntington disease DNA testing.
11137014 2000 FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis.
11121205 2000 Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population.
11105061 2000 Huntington disease: DNA analysis in Brazilian population.
11092755 2000 Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles.
11063258 2000 HIP12 is a non-proapoptotic member of a gene family including HIP1, an interacting protein with huntingtin.
11035034 2001 Isolation of a 40-kDa Huntingtin-associated protein.
11013077 2000 Identification and characterization of the miniature pig Huntington's disease gene homolog: evidence for conservation and polymorphism in the CAG triplet repeat.
11008591 2000 Prevalence of Huntington disease in New South Wales in 1996.
10974549 2000 Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism.
10958656 2000 Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis.
10823891 2000 The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription.
10801775 2000 Activation of MLK2-mediated signaling cascades by polyglutamine-expanded huntingtin.
10770929 2000 Inhibiting caspase cleavage of huntingtin reduces toxicity and aggregate formation in neuronal and nonneuronal cells.
10441327 1999 Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin.
10434301 1999 The localization and interactions of huntingtin.
10410676 1998 Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins.
10353249 1999 Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease.
10332029 1999 PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival.
9809064 1998 SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates.
9798945 1998 Association of HAP1 isoforms with a unique cytoplasmic structure.
9778247 1998 Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions.
9700202 1998 Huntingtin interacts with a family of WW domain proteins.
9668110 1998 A human HAP1 homologue. Cloning, expression, and interaction with huntingtin.
9599014 1998 HAP1-huntingtin interactions do not contribute to the molecular pathology in Huntington's disease transgenic mice.
9535906 1998 Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract.
9454836 1998 Interaction of huntingtin-associated protein with dynactin P150Glued.
9285789 1997 Huntingtin-associated protein 1 (HAP1) binds to a Trio-like polypeptide, with a rac1 guanine nucleotide exchange factor domain.
9152833 1997 Analysis of the 5' upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD.
9147654 1997 HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system.
9079622 1997 SH3 domain-dependent association of huntingtin with epidermal growth factor receptor signaling complexes.
8702625 1996 Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme.
8696339 1996 Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract.
8612237 1996 Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH.
8458085 1993 A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.
8197474 1994 Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat.
8162057 1994 Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat [corrected].
7951324 1994 Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.
7903579 1993 Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression.
7774020 1995 Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes.
7759106 1995 Structural analysis of the 5' region of mouse and human Huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms.
7748555 1995 Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons.
7647777 1995 Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form.
7568002 1995 Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies.
7477378 1995 A huntingtin-associated protein enriched in brain with implications for pathology.
1302016 1992 The Huntington's disease candidate region exhibits many different haplotypes.