Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 GeneticVariation disease BEFREE A mutation in a region of the NPC1 gene commonly altered in NPC patients reduces NPC1 levels at synapses due to enhanced NPC1 protein degradation. 31535451 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 Biomarker disease BEFREE Two proteins have been linked as the critical components in the molecular mechanisms involved in the Niemann Pick type C (NPC) disease: NPC1, a 140 kDa polytopic membrane-bound protein, and the smaller (132 residues), water-soluble NPC2 protein. 30942586 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 Biomarker disease BEFREE These data establish that FOXO3a can be a novel and reliable NPC marker and a potential therapeutic target against NPC. 31022422 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 Biomarker disease BEFREE The highest hydrolysis activity of An-lipase was towards <i>p</i>NPC (C8), followed by <i>p</i>NPB (C4) and <i>p</i>NPA (C2), then <i>p</i>NPL (C12). 31168437 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 Biomarker disease BEFREE Statistical methods were used to analyze the correlation between IL-17A expression and the clinicopathological variables of NPC.The NPC patients were followed up. 31456038 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 Biomarker disease BEFREE The incidence rate of nasopharyngeal cancer (nasopharyngeal carcinoma [NPC]) is much higher in Southeast Asia than in western countries. 30200105 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 AlteredExpression disease BEFREE A total of 124 survivors of head and neck cancer (87% nasopharyngeal carcinoma; NPC) completed measures of psychological distress (Hospital Anxiety and Depression Scale; HADS), illness perceptions (Brief Illness Perception Questionnaire; B-IPQ), dispositional optimism (revised Chinese version of the Life Orientation Test; C-LOT-R), and clinical and demographic data approximately12.9 months after diagnosis (T1). 30307664 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 AlteredExpression disease BEFREE Subsequent analyses showed that alexidine specifically increased levels of NPC1 transcript and mature protein in both control and NPC patient cells. 29659804 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 GeneticVariation disease BEFREE TCF treatment significantly delayed both neurodegeneration and death in the Npc1 <sup>nmf164</sup> murine model of Niemann-Pick Type C (NPC) disease. 29497113 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 GeneticVariation disease BEFREE Niemann-Pick Type C (NPC) disease is a rare neurovisceral disorder caused by mutations of either NPC1 or NPC2 gene and characterized by defective intracellular transport of cholesterol and glycosphingolipids, leading to neuron loss and myelin aberration in the central nervous system. 29406968 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 GeneticVariation disease BEFREE We provide detailed investigation of the CLR-NPC1 (NTD) binding process; and propose the mechanism, by which Q92R mutation causes NPC disease. 30183109 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 Biomarker disease BEFREE Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare? 30209687 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 GeneticVariation disease BEFREE Despite recent reports of the NPC1 structure depicting its overall architecture, the function of its C-terminal luminal domain (CTD) remains poorly understood even though 45% of NPC disease-causing mutations are in this domain. 28784760 2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 Biomarker disease BEFREE Therefore, our results uncover a novel mechanistic understanding of miR‑150-mediated tumor suppression in NPC, which will facilitate the development of effective cancer therapies against nasopharyngeal carcinoma. 28350089 2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 GeneticVariation disease BEFREE The large majority of NPC disease is caused by mutations in NPC1, a large polytopic membrane protein that functions in late endosomes. 28193631 2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 AlteredExpression disease BEFREE Because neurodegeneration is the main clinical feature of NPC disease, and FTY720 accumulates in the CNS and has several advantages over available histone deacetylase inhibitors now in clinical trials, our work provides a potential opportunity for treatment of this incurable disease.-Newton, J., Hait, N. C., Maceyka, M., Colaco, A., Maczis, M., Wassif, C. A., Cougnoux, A., Porter, F. D., Milstien, S., Platt, N., Platt, F. M., Spiegel, S. FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts. 28082351 2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 AlteredExpression disease BEFREE There was a significant reverse correlation between Cks1 and p27<sup>kip1</sup> protein expression in NPC (r = -0.189, P < 0.05).In addition, Kaplan-Meier survival curve showed that there was a significant tendency of shorter overall survival (OS) in NPC patients with Cks1 positive expression compared to negative ones, especially in patients with lymph node metastasis (P < 0.001, respectively). 28061788 2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 AlteredExpression disease BEFREE The reduced activity of P450 enzymes may be the result of bile acid deficiency/imbalance in Npc1-/- mice, as bile acid treatment significantly rescued P450 enzyme activity in Npc1-/- mice and has the potential to be an adjunctive therapy for NPC disease patients. 27019000 2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 GeneticVariation disease BEFREE The observation that Npc1 and Cstb deletion genetically interact to potently enhance the degenerative phenotype of the NPC cerebellum provides strong support for the notion that lysosomal membrane permeabilization contributes to cerebellar degeneration in NPC disease. 26908626 2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 AlteredExpression disease BEFREE Ten independent NPC gene expression profiling microarray datasets, including 135 samples from NPC cell lines, primary cell lines, and tissues were assimilated into a meta-analysis and cross-validation to identify a cohort of genes that were significantly dysregulated in NPC. 25724187 2015
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 GeneticVariation disease BEFREE Mutations in the NPC1 protein are implicated in 95% of patients with NPC disease. 25873482 2015
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 GeneticVariation disease BEFREE Our study showed that type A is the most prevalent in our population (100% of healthy controls, 96.9% of aHSCT patients, 90.8% of HNSCC patients, and 94.9% of NPC patients) and that type B was significantly associated with NPC (P = 0.019; RR = 8.90). 25879824 2015
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 GeneticVariation disease BEFREE Null mutations of the Niemann-Pick type C1 (NPC1) gene cause NPC disease, a lysosomal storage disorder characterized by cholesterol accumulation in late endosomes (LE) and lysosomes (Ly). 26283546 2015
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 Biomarker disease BEFREE The NPC patient-derived fibroblasts (NPC1 fibroblasts) showed an increase in the number of LC3-positive puncta compared with normal fibroblasts, even in the basal conditions; the HP-β-CD treatment markedly increased the number of LC3-positive puncta and the levels of p62 in NPC1 fibroblasts, indicating that autophagic flux was further perturbed. 25713067 2015
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.100 Biomarker disease BEFREE We validated this metric in a mouse model of the LSD Niemann-Pick type C1 disease (NPC1) and in a prospective 5-year international study of NPC patients. 24487591 2014