Property Summary

NCBI Gene PubMed Count 128
PubMed Score 512.80
PubTator Score 497.52

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
psoriasis 1.500 1.0e-03
osteosarcoma 2.291 4.3e-05
medulloblastoma, large-cell -1.100 7.4e-04
adrenocortical carcinoma -1.988 1.1e-05
tuberculosis -1.300 9.4e-05
lung cancer -1.900 8.2e-03
pancreatic cancer 1.300 2.2e-04
group 4 medulloblastoma -1.400 8.6e-04
lung carcinoma -1.500 2.9e-26
ovarian cancer 1.300 1.7e-04
Gaucher disease type 1 -1.200 1.7e-02
Down syndrome 1.300 1.8e-03

 GWAS Trait (1)

Protein-protein Interaction (1)

MLP Assay (6)

AID Type Active / Inconclusive / Inactive Description
485313 confirmatory 7586 / 8944 / 304846 qHTS Assay for NPC1 Promoter Activators
485315 summary 0 / 0 / 0 qHTS Assay for NPC1 Promoter Activators: Summary
493203 confirmatory 48 / 41 / 133 qHTS Assay for NPC1 Promoter Activators: Initial hit validation from the primary screen
624117 confirmatory 4 / 20 / 198 qHTS Assay for Rab9 Promoter Activators: Hit Validation Using Renilla Luciferase Read-Out
720526 confirmatory 13 / 18 / 190 qHTS Assay for NPC1 Promoter Activators: Hit Validation Using Renila Luciferase Read-Out for NPC1
720527 confirmatory 43 / 39 / 139 qHTS Assay for NPC1 Promoter Activators: Hit Validation Using Firefly Luciferase Read-Out for NPC1

Gene RIF (105)

PMID Text
26846330 Structure of glycosylated NPC1 luminal domain C reveals insights into NPC2 and Ebola virus interactions
26818574 these results clearly demonstrated that the over-expression of NPC1 with a defective function in an imatinib-resistant Ph+ acute lymphoblastic leukemia cell line
26771495 Study determined the crystal structure of the primed GP (GPcl) of Ebola virus bound to domain C of NPC1 (NPC1-C); NPC1-C utilizes two protruding loops to engage a hydrophobic cavity on head of GPcl. Upon enzymatic cleavage and NPC1-C binding, conformational change in the GPcl further affects the state of the internal fusion loop, triggering membrane fusion.
26578804 These experiments support a model in which NPC1 protein functions to transfer cholesterol past a lysosomal glycocalyx.
26507101 Fibroblasts from Niemann-Pick type C (NPC) disease patients with low levels of NPC1 protein have high amounts of procathepsin D but reduced quantities of the mature protein, thus showing a diminished cathepsin D activity.
26468524 Here, using live cell imaging, the authors obtained evidence that in contrast to the new model, ebolavirus enters cells through endolysosomes that contain both NPC1 and TPC2.
26338816 NPC1 mutations are substantially enriched in unexplained early onset ataxia, making it high risk group for Niemann-Pick disease type C.
26283546 results uncover Akt as a key regulator of NPC1 degradation and link NPC1 to cancer cell proliferation and migration.
26019327 In a transgenic mouse model, human NPC1 disease was faithfully recapitulated in a NPC1 I1061T mutation knock-in model.
25873482 An isobaric labeling-based quantitative analysis of proteome of NPC1(I1061T) primary fibroblasts when compared with wild-type cells identified 281 differentially expressed proteins based on stringent data analysis criteria, is reported.
25771912 Results identified six novel mutations (PKHD1: p.Thr777Met, p.Tyr2260Cys; ABCB11: p.Val1112Phe, c.611+1G > A, p.Gly628Trpfs*3 and NPC1: p.Glu391Lys) for the diagnostic of inherited infantile cholestatic disorders.
25764212 Our data suggest an incidence rate for NPC1 and NPC2 of 1/92,104 and 1/2,858,998, respectively. Evaluation of common NPC1 variants, however, suggests that there may be a late-onset NPC1 phenotype with a markedly higher incidence.
25310500 This study showed that Niemann-Pick C1 (NPC1), is required for Lloviu virus (LLOV) entry, suggesting that receptor binding would not impose a barrier to LLOV infection.
25251378 Data suggest that in order for the ligand cholesterol to slide from one binding pocket to the other (from NPC2 to NPC1), cholesterol undergoes conformational change/isomerization to accommodate the bent transfer pathway between the 2 binding pockets.
25238906 NPC1 gene sequencing revealed that he was a compound heterozygote for the p.S954L and p.N1156S mutations.
25220527 heterozygous mutations in the NPC1/2 gene might be a risk factor for Alzheimer's disease
24915861 twelve individuals were subsequently confirmed to be NP-C by DNA analysis of NPC1 and NPC2 genes, with the early infantile form, the late infantile form, the juvenile form, and the adult form
24866237 These findings show that the AD-like phenotype of NPC model cells can be partly reverted by promoting a non-amyloidogenic processing of APP through the upregulation of GGA1 supporting its preventive role against AD
24790103 elevated mitochondrial cholesterol levels in NPC1-depleted cells and in NPC2-depleted cells expressing mutant NPC2 that allows endosomal cholesterol trafficking to mitochondria were associated with increased expression of antioxidant response factor Nrf2
24296264 role of NPC1 in regulating intracellular cholesterol trafficking and atherosclerosis.
24064683 The minor G allele frequency of the rs1788799 polymorphisms in NPC1 might be a protective factor while the rs3764650 polymorphisms of ABCA7 might not be related to sporadic Alzheimer's disease in the Han Chinese population.
24001314 an atomistic model is proposed of the transfer of cholesterol from NPC2 to NPC1(NTD) through the formation of an intermediate NPC1(NTD)-NPC2 complex
23733943 Treatment of NPC1-null or NPC2-deficient cells with cyclodextrin was effective in reducing cholesterol storage as well as the endocytic accumulation of sialoglycoproteins, demonstrating a direct link between cholesterol storage and abnormal recycling.
23701245 A novel NPC1 mutation causing the Niemann-Pick type C disease and segregating to a Greek island has been identified.
23567849 the NPC1 promoter methylation is a probable mechanism that can result in reduced/impaired NPC1 expression/activity and may thus contribute to progression of cardiovascular diseases.
23521797 there is an additional sterol-binding site on NPC1
23382922 lack of Npc1 protein can alter the expression profile of selected transcripts as well as proteins, and APP overexpression influences cerebral pathology by enhancing changes triggered by Npc1 deficiency in the bigenic line.
23142039 Characterization of novel chromosomal microdeletions at 18q11-q12 involving the NPC1 gene in two patients with Niemann-Pick type C disease.
23010472 this is the first report, showing a role of NPC1 in platelet function and formation but further studies are needed to define how cholesterol storage interferes with these processes
22962690 The NPC2 delivers cholesterol to the perimeter membrane of late endosomes, where it becomes available for transport to mitochondria without requiring NPC1.
22607065 NPC1 silencing does not result in accumulation of sphingosine. Thus, NPC1 does not play significant role in sphingosine export from endosomal/lysosomal compartment.
22495346 Neuron-only expression of NPC1 does not completely prevent neurodegeneration; the addition of astrocyte expression decreases the rate of decline.
22437840 Data show that that NPC1 (Niemann-Pick disease, type C1 protein) neurons have strong spontaneous activation of autophagy.
22395071 Purified human NPC1 binds only to a cleaved form of Ebola virus spike glycoprotein that is generated within cells during entry, and only viruses containing cleaved glycoprotein can utilize a receptor retargeted to the cell surface.
22326530 NPC1 homozygous mutation of S865L correlated with a relatively severe juvenile neurological form of Niemann-Pick disease type C disease in chinese patients
22273177 Loss of Niemann Pick type C proteins 1 and 2 greatly enhances HIV infectivity and is associated with accumulation of HIV Gag and cholesterol in late endosomes/lysosomes.
22273177 NPC2-deficient cells exhibit Gag accumulation in late endosomal/lysosomal (LE/L) compartments of these cells as well as decreased NPC1 expression after HIV infection
22212234 NPC1 traffic to Anaplasma phagocytophilum inclusions is crucial for infection.
22179027 overexpression of ABCA1 alone is able to correct the mobilization of cholesterol from late endosomes/lysosomes and the formation of HDL particles in NPC1- but not NPC2-deficient human fibroblasts
21866103 membrane fusion mediated by filovirus glycoproteins and viral escape from the vesicular compartment require the NPC1 protein, independent of its known function in cholesterol transport
21866101 NPC1 is essential for Ebola virus entry and a target for antiviral therapy
20955564 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20955564 results of the present study suggest that NPC1 variants seem to be contributors to coronary heart disease occurrence in Chinese population
20843981 Observational study of gene-disease association. (HuGE Navigator)
20712903 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20607864 Increased level and processing of amyloid protein precursor may be associated with the development of pathology and/or degenerative events observed in Npc1-deficient mouse brains.
20571754 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20571217 Testing for epistatic interaction between genes in the pathway of cholesterol metabolism NPC1 protein and ABCA1 protein might be useful for predicting Alzheimer's disease risk
20571217 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20521171 Case Report: loss of NPC1 function, with attendant changes in membrane cholesterol composition, does not significantly modify the insulin resistance phenotype, even in the context of severely impaired INSR function.
20497909 Total cholesterol levels were reduced in hippocampus from AD (Alzheimer's disease) patients compared to control individuals, and it is therefore possible that the increased expression of NPC1 is linked to perturbed cholesterol homeostasis in AD.
20489167 Common variations in NPC1 contributes to serum triglyceride levels in humans with Niemann-Pick disease type C1.
20489167 Observational study of gene-disease association. (HuGE Navigator)
20007703 The results suggest that NPC1 and NPC2 can function independently of one another in the egress of certain membrane-impermeable lysosomal cargo.
19965586 a transport pathway for endosomal cholesterol to mitochondria that requires MLN64, but not NPC1
19913121 Observational study of gene-disease association. (HuGE Navigator)
19878569 Observational study of gene-disease association. (HuGE Navigator)
19851340 Observational study of gene-disease association. (HuGE Navigator)
19815536 Data show that the BCG phagosome is relatively depleted in LAMP-2, NPC1, flotillin-1, vATPase, and syntaxin 3.
19746448 physiological and coordinate downregulation of the NPC1 and NPC2 genes/proteins promotes the sequestration of LDL-derived cholesterol within endocytic compartments and serves a role in maintaining intracellular cholesterol homeostasis
19563754 High-resolution structures of the N-terminal domain (NTD) of NPC1 and complexes with cholesterol & 25-hydroxycholesterol are described; NPC1(NTD) binds cholesterol in an orientation opposite to NPC2: 3beta-hydroxyl buried and isooctyl side chain exposed.
19474101 Cholesterol trafficking mediated by NPC1 is needed for efficient HIV-1 production and Gag accumulation in endosomal/lysosomal compartments.
19474101 NPC2-deficient cells exhibit Gag accumulation in late endosomal/lysosomal (LE/L) compartments of these cells as well as decreased NPC1 expression after HIV infection
19252935 Results characterize mutations in the NPC1 and 2 genes in 34 unrelated patients including 32 patients with mutations in NPC1 gene and two patients in NPC2 gene, with 33 distinct genotypes encountered.
19252935 Observational study of gene-disease association. (HuGE Navigator)
19206179 NPC1 gene mutation analysis identified all of the mutant alleles including three novel mutations.
19151714 In addition to FTO and MC4R, we detected significant association of obesity with three new risk loci in NPC1 (endosomal/lysosomal Niemann-Pick C1 gene), near MAF (encoding the transcription factor c-MAF) and near PTER (phosphotriesterase-related gene).
19074461 Tau plays a critical role in the regulation of autophagy in NPC1-deficient cells.
19029290 The use of fluorescent cholesterol analogs provides novel information on the molecular properties of the sterol-binding site in the full-length NPC1 protein.
19007772 ATP7B localizes in the late endosomes. Copper in the late endosomes is transported to the secretory compartment via NPC1-dependent pathway and incorporated into apo-ceruloplasmin to form holo-ceruloplasmin.
18834923 This study show an association of genetic variation in NPC1 with SLAD and/or aging.
18834923 Observational study of gene-disease association. (HuGE Navigator)
18774957 NPC1 deficiency causes an imbalance in the intracellular redox state, which could be restored by ALLO treatment in vitro
18636124 Observational study of gene-disease association. (HuGE Navigator)
18591242 Niemann-Pick C1 functions in regulating lysosomal amine content
18272928 NPC-1 is sterol-regulated, achieved by SREBP protein acting via the sterol regulated element and the E-box sequences.
18272927 Transport of LDL-derived cholesterol from late endosomes/lysosomes to the sterol-regulatory pool is regulated by the NPC1 protein and promotes feedback inhibition of the SREBP pathway.
18216017 novel approaches to treat NPC disease caused by the NPC1(I1061T) mutation
17989072 Sterol binding site on luminal loop-1 is not essential for NPC1 function in fibroblasts, but may function in other cells where NPC1 deficiency produces more complicated lipid abnormalities.
17662536 human NPC1 can functionally substitute for the Caenorhabditis elegans genes ncr-1 and/or ncr-2.
17183645 I1061T NPC1 NPC1 mutant cells displayed an inappropriate homeostatic response to accumulated intracellular cholesterol. In addition, a number of striking parallels were observed between NPC disease and Alzheimer's disease.
17160616 mutations in the NPC1 gene impair verbal working memory more than visuospatial working memory
17020879 NPC1 protein function is non-essential for the trafficking and removal of cellular cholesterol by ApoAI if the down-stream defects in ABCA1 and ABCG1 regulation in NPC disease cells are corrected using an LXR agonist
17008555 Modulation of human NPC1L1 expression and promoter activity by cholesterol in a =sterol regulatory element binding protein-2 dependent mechanism.
16778374 We report a Japanese patient with NPC caused by a homozygous c.2974 G > T mutation of the NPC1 gene,presenting with cataplexy at the age of 9 years and moderately low CSF-hypocretin 1 level.
16757520 Ubiquitylation of NPC1 and its association with the ESCRT complex are controlled by endosomal cholesterol levels utilizing a mechanism that involves NPC2.
16644737 cholesterol contributes directly to the sequestration of Rab9 on Niemann-Pick type C cell membranes, which in turn, disrupts mannose 6-phosphate receptor trafficking
16174794 NPC1 has a role in a vesicle-mediated pathway responsible for the clearance of drugs from cells and provides an explanation for a drug sequestration phenotype exhibited by the MDR HL-60 cell line
16054367 proposes a new hypothesis for the potential action or function of the NPC1 protein in the endosome; in this context, the relationship of NPC2 and NPC1 is also discussed.
15908696 D787N and L657F are activating NPC1 mutations provide evidence for a conserved mechanism for the sterol-sensing domain among cholesterol homeostatic proteins.
15774455 Six novel NPC1 mutations were identified of which three are missense mutations located in the cysteine-rich domain. These are the first NPC1 mutations reported from Chinese patients with NPC.
15681833 ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein and translocates copper from the cytosol to the late endosomal lumen, participating in biliary copper excretion via lysosomes
15632139 fatty acid flux through NPC1-deficient lysosomes is normal
15459971 first example of a splicing defect due to a mutation in the lariat branch point sequence in an intron of NPC1, found in Niemann-Pick type C patients
15347664 Data show that multiple signals are responsible for the trafficking of NPC1 to the endosomal compartment, including the dileucine motif and a previously unidentified signal residing within the putative sterol-sensing domain transmembrane domain 3.
15314240 Results demonstrate that there is direct binding between Niemann-Pick type C1 protein (NPC1) and azocholestanol, which does not require NPC2 but requires a functional sterol-sensing domain within NPC1.
15069562 findings suggest that sequestration of theta-toxin to raft-enriched cell surface vesicles may underlie reduced sensitivity of NPC1-deficient cells to theta-toxin.
12719428 NPC1 and NPC2 have a role in the regulation of sterol homeostasis through generation of LDL cholesterol-derived oxysterols
12408188 Our results will contribute to defining the association between the clinical phenotypes and the genetic abnormalities in Niemann-Pick C disease.
12401890 15 mutations, eight of which were previously unreported, from Niemann-Pick type C disease patients
12398991 NPC2, NPC1 and MLN64 may act in an ordered sequence to sense cholesterol, effect sterol movement, and consequently, influence the process of vesicular trafficking.
12125814 Review of NPC1 and HE1/NPC2 roles regulating cholesterol transport through endosomal/lysosomal system and in Niemann-Pick type C disease
11907140 Niemann-Pick C1 protein regulates cholesterol transport to the trans-Golgi network and plasma membrane caveolae.
11754101 Mutational analysis of the complete genomic sequence of NPC1 and characterization of haplotypes suggest that the expression of missense mutations is influenced by haplotypic background.

AA Sequence

MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQELCPGFFFGN      1 - 70
VSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQFLNVTATEDYVDPVTNQTKTN     71 - 140
VKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFS    141 - 210
DFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFL    211 - 280
LVFFGAFFAVWCYRKRYFVSEYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNP    281 - 350
GCVIFFSLVFITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIY    351 - 420
QPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCTILSVLNYFQN    421 - 490
SHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGPVFPWLVLGGYDDQNYNNATA    491 - 560
LVITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLTISFTAERSIEDELNRESDSDVFTVVISYAI    561 - 630
MFLYISLALGHMKSCRRLLVDSKVSLGIAGILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVD    631 - 700
NIFILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFI    701 - 770
DFLLQITCFVSLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIA    771 - 840
IFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYTSSKGQNMVCG    841 - 910
GMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNASVVDPACVRCR    911 - 980
PLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYSSAVNILLGHGTRVGATYFMTYHTVLQTSAD    981 - 1050
FIDALKKARLIASNVTETMGINGSAYRVFPYSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCE   1051 - 1120
LWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEA   1121 - 1190
LAHMGSSVFSGITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKS   1191 - 1260
CATEERYKGTERERLLNF                                                       1261 - 1278
//

Text Mined References (143)

PMID Year Title
26846330 2016 Structure of glycosylated NPC1 luminal domain C reveals insights into NPC2 and Ebola virus interactions.
26818574 2016 Niemann-Pick disease type C1(NPC1) is involved in resistance against imatinib in the imatinib-resistant Ph+ acute lymphoblastic leukemia cell line SUP-B15/RI.
26771495 2016 Ebola Viral Glycoprotein Bound to Its Endosomal Receptor Niemann-Pick C1.
26578804 2015 Glycosylation inhibition reduces cholesterol accumulation in NPC1 protein-deficient cells.
26507101 2016 Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1.
26468524 2015 Ebolavirus Glycoprotein Directs Fusion through NPC1+ Endolysosomes.
26338816 2015 NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening.
26283546 2015 Akt activation increases cellular cholesterol by promoting the proteasomal degradation of Niemann-Pick C1.
26019327 2015 A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25873482 2015 Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann-Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis.
25855742 2015 Interaction between TIM-1 and NPC1 Is Important for Cellular Entry of Ebola Virus.
25771912 2015 Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing.
25764212 2016 High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
25310500 2014 Cell entry by a novel European filovirus requires host endosomal cysteine proteases and Niemann-Pick C1.
25251378 2014 Niemann-Pick type C disease: a QM/MM study of conformational changes in cholesterol in the NPC1(NTD) and NPC2 binding pockets.
25238906 2015 [Niemann-Pick type C disease and psychosis: Two siblings].
25220527 2014 Mutations in Niemann Pick type C gene are risk factor for Alzheimer's disease.
24915861 2014 Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.
24866237 2014 GGA1 overexpression attenuates amyloidogenic processing of the amyloid precursor protein in Niemann-Pick type C cells.
24790103 2014 Adaptations of energy metabolism associated with increased levels of mitochondrial cholesterol in Niemann-Pick type C1-deficient cells.
24296264 2014 NPC1, intracellular cholesterol trafficking and atherosclerosis.
24064683 2013 Association study of ABCA7 and NPC1 polymorphisms with Alzheimer's disease in Chinese Han ethnic population.
24001314 2013 Computational studies of the cholesterol transport between NPC2 and the N-terminal domain of NPC1 (NPC1(NTD)).
23733943 2013 Abnormal accumulation and recycling of glycoproteins visualized in Niemann-Pick type C cells using the chemical reporter strategy.
23701245 2014 Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.
23567849 2013 Aberrant promoter methylation profile of Niemann-pick type C1 gene in cardiovascular disease.
23521797 2013 Discovery of oxysterol-derived pharmacological chaperones for NPC1: implication for the existence of second sterol-binding site.
23453666 2013 Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
23382922 2013 Alterations in gene expression in mutant amyloid precursor protein transgenic mice lacking Niemann-Pick type C1 protein.
23360953 2013 Interaction of AnxA6 with isolated and artificial lipid microdomains; importance of lipid composition and calcium content.
23142039 2012 Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.
23010472 2013 NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.
22962690 2012 Niemann-Pick Type C2 protein contributes to the transport of endosomal cholesterol to mitochondria without interacting with NPC1.
22607065 2012 Tracking sphingosine metabolism and transport in sphingolipidoses: NPC1 deficiency as a test case.
22495346 2012 Niemann-Pick C1 mice, a model of "juvenile Alzheimer's disease", with normal gene expression in neurons and fibrillary astrocytes show long term survival and delayed neurodegeneration.
22437840 2012 Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1.
22395071 2012 Ebola virus entry requires the host-programmed recognition of an intracellular receptor.
22326530 2012 Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.
22273177 2012 Loss of Niemann Pick type C proteins 1 and 2 greatly enhances HIV infectivity and is associated with accumulation of HIV Gag and cholesterol in late endosomes/lysosomes.
22212234 2012 Subversion of NPC1 pathway of cholesterol transport by Anaplasma phagocytophilum.
22179027 2012 ABCA1-dependent mobilization of lysosomal cholesterol requires functional Niemann-Pick C2 but not Niemann-Pick C1 protein.
21866103 2011 Ebola virus entry requires the cholesterol transporter Niemann-Pick C1.
21866101 2011 Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection.
21412152 2011 Function of the Niemann-Pick type C proteins and their bypass by cyclodextrin.
21269460 2011 Initial characterization of the human central proteome.
20955564 2010 Interaction of functional NPC1 gene polymorphism with smoking on coronary heart disease.
20843981 2010 Associations of six single nucleotide polymorphisms in obesity-related genes with BMI and risk of obesity in Chinese children.
20712903 2010 Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
20674853 2010 Transfer of cholesterol by the NPC team.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20607864 2010 Altered levels and distribution of amyloid precursor protein and its processing enzymes in Niemann-Pick type C1-deficient mouse brains.
20571754 2010 Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
20571217 2010 Epistasis between intracellular cholesterol trafficking-related genes (NPC1 and ABCA1) and Alzheimer's disease risk.
20521171 2010 Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.
20497909 2010 Increased expression of the lysosomal cholesterol transporter NPC1 in Alzheimer's disease.
20489167 2010 Niemann-Pick C1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels.
20007703 2010 Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo.
19965586 2010 MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19878569 2009 Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.
19851340 2009 Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population.
19815536 2010 The Mycobacterium bovis bacille Calmette-Guerin phagosome proteome.
19746448 2009 Physiological and coordinate downregulation of the NPC1 and NPC2 genes are associated with the sequestration of LDL-derived cholesterol within endocytic compartments.
19583955 2009 Identification of cholesterol-regulating genes by targeted RNAi screening.
19563754 2009 Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol.
19474101 2009 Deficiency of niemann-pick type C-1 protein impairs release of human immunodeficiency virus type 1 and results in Gag accumulation in late endosomal/lysosomal compartments.
19252935 2009 Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.
19206179 2009 The clinical spectrum of fetal Niemann-Pick type C.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19151714 2009 Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.
19074461 2009 Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
19029290 2009 Characterization of fluorescent sterol binding to purified human NPC1.
19007772 2009 Niemann-Pick C1 protein transports copper to the secretory compartment from late endosomes where ATP7B resides.
18834923 2008 Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population.
18832164 2008 NPC1/NPC2 function as a tag team duo to mobilize cholesterol.
18774957 2009 Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone.
18772377 2008 NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes.
18636124 2008 Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.
18591242 2008 Niemann-Pick C1 functions in regulating lysosomal amine content.
18272928 2008 Cholesterol supply and SREBPs modulate transcription of the Niemann-Pick C-1 gene in steroidogenic tissues.
18272927 2008 The Niemann-Pick C1 gene is downregulated by feedback inhibition of the SREBP pathway in human fibroblasts.
18216017 2008 Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding.
17989072 2008 Purified NPC1 protein: II. Localization of sterol binding to a 240-amino acid soluble luminal loop.
17897319 2007 Integral and associated lysosomal membrane proteins.
17662536 2007 Human NPC1L1 and NPC1 can functionally substitute for the ncr genes to promote reproductive development in C. elegans.
17183645 2006 Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling.
17160616 2007 Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations.
17020879 2006 Correction of apolipoprotein A-I-mediated lipid efflux and high density lipoprotein particle formation in human Niemann-Pick type C disease fibroblasts.
17008555 2007 Modulation of human Niemann-Pick C1-like 1 gene expression by sterol: Role of sterol regulatory element binding protein 2.
16802107 2006 Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
16778374 2006 Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid.
16757520 2006 Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4.
16644737 2006 Cholesterol accumulation sequesters Rab9 and disrupts late endosome function in NPC1-deficient cells.
16177791 2005 DNA sequence and analysis of human chromosome 18.
16174794 2006 Niemann-Pick C1 protein facilitates the efflux of the anticancer drug daunorubicin from cells according to a novel vesicle-mediated pathway.
16141411 2005 Liver X receptor activation controls intracellular cholesterol trafficking and esterification in human macrophages.
16126423 Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
16098014 2005 Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
16054367 2005 Guilty until proven innocent: the case of NPC1 and cholesterol.
15908696 2005 The sterol-sensing domain of the Niemann-Pick C1 (NPC1) protein regulates trafficking of low density lipoprotein cholesterol.
15774455 2005 Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.
15681833 2005 The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein.
15632139 2005 Flux of fatty acids through NPC1 lysosomes.
15596783 2004 Heterozygous Niemann-Pick disease type C presenting with tremor.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15459971 2004 A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.
15347664 2004 Targeting of NPC1 to late endosomes involves multiple signals, including one residing within the putative sterol-sensing domain.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15314240 2004 Binding between the Niemann-Pick C1 protein and a photoactivatable cholesterol analog requires a functional sterol-sensing domain.
15069562 2004 Reduced sensitivity of Niemann-Pick C1-deficient cells to theta-toxin (perfringolysin O): sequestration of toxin to raft-enriched membrane vesicles.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12955717 2003 Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
12719428 2003 NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols.
12554680 2003 Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12408188 2002 Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease.
12401890 2002 Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.
12398991 2002 Sterols and intracellular vesicular trafficking: lessons from the study of NPC1.
12125814 2002 The Niemann-Pick C proteins and trafficking of cholesterol through the late endosomal/lysosomal system.
11754101 2002 NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
11545687 Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.
11479732 2001 Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
11349231 2001 Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
11333381 2001 Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
11182931 2000 Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.
10821832 2000 Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein.
10521297 1999 Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.
10521290 1999 Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.
10480349 NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
10425213 1999 The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene.
9990080 1999 Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann- Pick type C disease.
9927649 1999 Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization.
9866822 1998 Niemann-Pick C disease: cholesterol handling gone awry.
9634529 1998 The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
9559270 1998 Niemann-Pick disease type C.
9458174 1998 Recent advances in elucidating Niemann-Pick C disease.
9245994 1997 Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C.
9211850 1997 Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.
9211849 1997 Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
8446622 1993 Linkage of Niemann-Pick disease type C to human chromosome 18.