NPC1

Summary

Gene Symbol: NPC1
Description: NPC intracellular cholesterol transporter 1
Alias: NPC, SLC65A1, NPC intracellular cholesterol transporter 1, Niemann-Pick C1 protein, truncated Niemann-Pick C1
Species: human
Products:     NPC1

Top Publications

  1. Blom T, Linder M, Snow K, Pihko H, Hess M, Jokitalo E, et al. Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. Hum Mol Genet. 2003;12:257-72 pubmed
    ..Mutations in the NPC1 gene cause approximately 95% of the cases, the rest being caused by NPC2 mutations...
  2. Ohsaki Y, Sugimoto Y, Suzuki M, Hosokawa H, Yoshimori T, Davies J, et al. Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4. J Cell Sci. 2006;119:2643-53 pubmed
    Niemann-Pick disease type C (NPC) is an inherited lipid storage disorder caused by mutations in NPC1 or NPC2...
  3. Côté M, MISASI J, Ren T, Bruchez A, Lee K, Filone C, et al. Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection. Nature. 2011;477:344-8 pubmed publisher
    ..of the lead compound, we show that the target of the inhibitor is the endosomal membrane protein Niemann-Pick C1 (NPC1)...
  4. Rodríguez Pascau L, Toma C, Macías Vidal J, Cozar M, Cormand B, Lykopoulou L, et al. Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients. Mol Genet Metab. 2012;107:716-20 pubmed publisher
    ..More than 300 disease-causing mutations have been identified so far in the NPC1 and NPC2 genes, including indel, missense, nonsense and splicing mutations...
  5. Xiong H, Higaki K, Wei C, Bao X, Zhang Y, Fu N, et al. Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C. Gene. 2012;498:332-5 pubmed publisher
    Niemann-Pick disease type C (NP-C), caused by mutations of either NPC1 or NPC2 gene, is an inherited lysosomal lipid storage disorder that is difficult to be diagnosed and treated...
  6. Infante R, Wang M, Radhakrishnan A, Kwon H, Brown M, Goldstein J. NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes. Proc Natl Acad Sci U S A. 2008;105:15287-92 pubmed publisher
    ..cholesterol from lysosomes requires two lysosomal proteins, polytopic membrane-bound Niemann-Pick C1 (NPC1) and soluble Niemann-Pick C2 (NPC2). The reason for this dual requirement is unknown...
  7. Carstea E, Morris J, Coleman K, Loftus S, Zhang D, Cummings C, et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science. 1997;277:228-31 pubmed
    ..By positional cloning methods, a gene (NPC1) with insertion, deletion, and missense mutations has been identified in NP-C patients...
  8. Goldman S, Krise J. Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo. J Biol Chem. 2010;285:4983-94 pubmed publisher
    The rare neurodegenerative disease Niemann-Pick Type C (NPC) results from mutations in either NPC1 or NPC2, which are membrane-bound and soluble lysosomal proteins, respectively...
  9. Millard E, Gale S, Dudley N, Zhang J, Schaffer J, Ory D. The sterol-sensing domain of the Niemann-Pick C1 (NPC1) protein regulates trafficking of low density lipoprotein cholesterol. J Biol Chem. 2005;280:28581-90 pubmed
    The Niemann-Pick C1 (NPC1) protein is a key participant in intracellular sterol trafficking and regulation of cholesterol homeostasis...

More Information

Publications89

  1. Kodam A, Maulik M, Peake K, Amritraj A, Vetrivel K, Thinakaran G, et al. Altered levels and distribution of amyloid precursor protein and its processing enzymes in Niemann-Pick type C1-deficient mouse brains. Glia. 2010;58:1267-81 pubmed publisher
    ..The disease is caused by mutations of either NPC1 or NPC2 gene and is accompanied by a severe loss of neurons in the cerebellum, but not in the hippocampus...
  2. Tarugi P, Ballarini G, Bembi B, Battisti C, Palmeri S, Panzani F, et al. Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts. J Lipid Res. 2002;43:1908-19 pubmed
    We analyzed Niemann-Pick type C disease 1 (NPC1) gene in 12 patients with Niemann-Pick type C disease by sequencing both cDNA obtained from fibroblasts and genomic DNA. All the patients were compound heterozygotes...
  3. Davies J, Ioannou Y. 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-activ. J Biol Chem. 2000;275:24367-74 pubmed
    The Niemann-Pick C1 (NPC1) protein is predicted to be a polytopic glycoprotein, and it contains a region with extensive homology to the sterol-sensing domains (SSD) of 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-R) and sterol ..
  4. Reddy J, Ganley I, Pfeffer S. Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling. PLoS ONE. 2006;1:e19 pubmed
    ..The majority of NPC cases are due to mutations in the NPC1 gene. The precise function of this gene is not yet known...
  5. Yang C, Su Y, Chiou P, Fietz M, Yu C, Hwu W, et al. Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C. J Neurol Neurosurg Psychiatry. 2005;76:592-5 pubmed
    ..Cholesterol esterification in skin fibroblasts is reduced, resulting in intracellular accumulation of cholesterol. NPC1 mutations are responsible for the disease in approximately 95% of patients...
  6. Kwon H, Abi Mosleh L, Wang M, Deisenhofer J, Goldstein J, Brown M, et al. Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol. Cell. 2009;137:1213-24 pubmed publisher
    ..Exit of cholesterol from lysosomes requires two proteins, membrane-bound Niemann-Pick C1 (NPC1) and soluble NPC2. NPC2 binds cholesterol with its isooctyl side chain buried and its 3beta-hydroxyl exposed...
  7. Erickson R, Larson Thomé K, Weberg L, Szybinska A, Mossakowska M, Styczynska M, et al. 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. Neurosci Lett. 2008;447:153-7 pubmed publisher
    ..controls and 120 "regular", 65-75-year-old controls, we show an association of genetic variation in NPC1 with SLAD and/or aging...
  8. Boadu E, Choi H, Lee D, Waddington E, Chan T, Asztalos B, et al. Correction of apolipoprotein A-I-mediated lipid efflux and high density lipoprotein particle formation in human Niemann-Pick type C disease fibroblasts. J Biol Chem. 2006;281:37081-90 pubmed
    ..We show here that treatment of human NPC1(-/-) fibroblasts with the liver X receptor (LXR) agonist TO-901317 increases ABCA1 expression and activity in human ..
  9. Meyre D, Delplanque J, Chevre J, Lecoeur C, Lobbens S, Gallina S, et al. Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. Nat Genet. 2009;41:157-9 pubmed publisher
    ..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, P = 2...
  10. Carette J, Raaben M, Wong A, Herbert A, Obernosterer G, Mulherkar N, et al. Ebola virus entry requires the cholesterol transporter Niemann-Pick C1. Nature. 2011;477:340-3 pubmed publisher
    ..and 39 independent mutations that disrupt the endo/lysosomal cholesterol transporter protein Niemann-Pick C1 (NPC1)...
  11. Tang Y, Leao I, Coleman E, Broughton R, Hildreth J. 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. J Virol. 2009;83:7982-95 pubmed publisher
    ..for intracellular cholesterol trafficking pathways with respect to HIV-1 biogenesis using Niemann-Pick type C-1 (NPC1)-deficient (NPCD) cells, wherein these pathways are severely compromised, causing massive accumulation of ..
  12. Ohgami N, Ko D, Thomas M, Scott M, Chang C, Chang T. Binding between the Niemann-Pick C1 protein and a photoactivatable cholesterol analog requires a functional sterol-sensing domain. Proc Natl Acad Sci U S A. 2004;101:12473-8 pubmed
    ..cholesterol and other lipids out of late endosomes by means of vesicular trafficking, but it is not known whether NPC1 directly interacts with cholesterol...
  13. Millat G, Marcais C, Rafi M, Yamamoto T, Morris J, Pentchev P, et al. 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. Am J Hum Genet. 1999;65:1321-9 pubmed
    ..hepatosplenomegaly and severe progressive neurological dysfunction, resulting from mutations affecting either the NPC1 gene (in 95% of the patients) or the yet-to-be-identified NPC2 gene...
  14. Fancello T, Dardis A, Rosano C, Tarugi P, Tappino B, Zampieri S, et al. Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. Neurogenetics. 2009;10:229-39 pubmed publisher
    ..resulting from a failure of cholesterol trafficking within the endosomal-lysosomal pathway, is due to mutations in NPC1 or NPC2 genes...
  15. Yu X, Jiang N, Yao P, Zheng X, Cayabyab F, Tang C. NPC1, intracellular cholesterol trafficking and atherosclerosis. Clin Chim Acta. 2014;429:69-75 pubmed publisher
    ..Niemann-Pick type C1 (NPC1), an integral membrane protein on the limiting membrane of late endosome/lysosome (LE/LY), is known to accept ..
  16. Loftus S, Morris J, Carstea E, Gu J, Cummings C, Brown A, et al. Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science. 1997;277:232-5 pubmed
    ..The predicted murine NPC1 protein has sequence homology to the putative transmembrane domains of the Hedgehog signaling molecule Patched, to ..
  17. Gelsthorpe M, Baumann N, Millard E, Gale S, Langmade S, Schaffer J, et al. Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding. J Biol Chem. 2008;283:8229-36 pubmed publisher
    Over 200 disease-causing mutations have been identified in the NPC1 gene...
  18. Pacheco C, Elrick M, Lieberman A. Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis. Hum Mol Genet. 2009;18:956-65 pubmed publisher
    ..and premature death, most often caused by an inherited deficiency in the intracellular lipid trafficking protein NPC1. To determine the extent to which tau affects NPC pathogenesis, we generated Npc1-/- mice deficient in tau...
  19. Frolov A, Zielinski S, Crowley J, Dudley Rucker N, Schaffer J, Ory D. NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols. J Biol Chem. 2003;278:25517-25 pubmed
    ..In this study we show that Niemann-Pick type C1 (NPC1) and Niemann-Pick type C2 (NPC2) mutants have increased cellular cholesterol, yet they are unable to suppress LDL ..
  20. Vanier M, Suzuki K. Recent advances in elucidating Niemann-Pick C disease. Brain Pathol. 1998;8:163-74 pubmed
    ..The major (> 90% of patients) NPC1 gene was mapped to 18q11 and recently isolated by positional cloning...
  21. Zampieri S, Mellon S, Butters T, Nevyjel M, Covey D, Bembi B, et al. Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone. J Cell Mol Med. 2009;13:3786-96 pubmed publisher
    Niemann-Pick C disease (NPC) is an autosomal recessive neurodegenerative disorder caused by the abnormal function of NPC1 or NPC2 proteins, leading to an accumulation of unesterified cholesterol and glycosphingolipids (GSLs) in the ..
  22. Garver W, Jelinek D, Francis G, Murphy B. The Niemann-Pick C1 gene is downregulated by feedback inhibition of the SREBP pathway in human fibroblasts. J Lipid Res. 2008;49:1090-102 pubmed publisher
    The Niemann-Pick C1 (NPC1) protein regulates the transport of cholesterol from late endosomes/lysosomes to other compartments responsible for maintaining intracellular cholesterol homeostasis...
  23. Ganley I, Pfeffer S. Cholesterol accumulation sequesters Rab9 and disrupts late endosome function in NPC1-deficient cells. J Biol Chem. 2006;281:17890-9 pubmed
    ..We conclude that cholesterol contributes directly to the sequestration of Rab9 on Niemann-Pick type C cell membranes, which in turn, disrupts mannose 6-phosphate receptor trafficking...
  24. Du X, Kumar J, Ferguson C, Schulz T, Ong Y, Hong W, et al. A role for oxysterol-binding protein-related protein 5 in endosomal cholesterol trafficking. J Cell Biol. 2011;192:121-35 pubmed publisher
    ..to accumulate in the limiting membranes of endosomal compartments in ORP5-depleted cells, whereas depletion of NPC1 or both ORP5 and NPC1 results in luminal accumulation of cholesterol...
  25. Millat G, Marcais C, Tomasetto C, Chikh K, Fensom A, Harzer K, et al. 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. Am J Hum Genet. 2001;68:1373-85 pubmed
    To obtain more information of the functional domains of the NPC1 protein, the mutational spectrum and the level of immunoreactive protein were investigated in skin fibroblasts from 30 unrelated patients with Niemann-Pick C1 disease...
  26. Greer W, Dobson M, Girouard G, Byers D, Riddell D, Neumann P. Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. Am J Hum Genet. 1999;65:1252-60 pubmed
    ..We have determined the intron/exon boundaries of eight exons from the conserved 3' portion of NPC1, the gene associated with most cases of the disease...
  27. Giese A, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, et al. A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease. Orphanet J Rare Dis. 2015;10:78 pubmed publisher
    ..Here, we describe a novel, highly specific and sensitive biomarker for Niemann-Pick Type C disease type 1 (NPC1), lyso-sphingomyelin-509...
  28. Huang T, Yin L, Wu J, Gu J, Wu J, Chen D, et al. MicroRNA-19b-3p regulates nasopharyngeal carcinoma radiosensitivity by targeting TNFAIP3/NF-κB axis. J Exp Clin Cancer Res. 2016;35:188 pubmed
    Nasopharyngeal carcinoma (NPC) is among the most common squamous cell carcinoma in South China and Southeast Asia. Radiotherapy is the primary treatment for NPC...
  29. Wu V, Leung W, Wong K, Chan Y, Law W, Leung W, et al. The impact of positron emission tomography on primary tumour delineation and dosimetric outcome in intensity modulated radiotherapy of early T-stage nasopharyngeal carcinoma. Radiat Oncol. 2016;11:109 pubmed publisher
    In intensity modulated radiotherapy (IMRT) of nasopharyngeal carcinoma (NPC), accurate delineation of the gross tumour volume (GTV) is important. Image registration of CT and MRI has been routinely used in treatment planning...
  30. Ferrucci R, Panzeri M, Ronconi L, Ardolino G, Cogiamanian F, Barbieri S, et al. Abnormal sexuality in Parkinson's disease: fact or fancy?. J Neurol Sci. 2016;369:5-10 pubmed publisher
    ..PD (aged 40-80years) from four Italian Movement Disorder Clinics and 123 non-Parkinsonian controls (NPC) (aged 40-80years)...
  31. Chen C, Lu Z, Yang J, Hao W, Qin Y, Wang H, et al. MiR-17-5p promotes cancer cell proliferation and tumorigenesis in nasopharyngeal carcinoma by targeting p21. Cancer Med. 2016;5:3489-3499 pubmed publisher
    ..However, its mechanism and function in nasopharyngeal carcinoma (NPC) remain largely unclear...
  32. Ko J, Klimowicz A, Jagdis A, Phan T, Laskin J, Lau H, et al. ATM, THMS, and RRM1 protein expression in nasopharyngeal carcinomas treated with curative intent. Head Neck. 2016;38 Suppl 1:E384-91 pubmed publisher
    In advanced nasopharyngeal carcinoma (NPC), biomarkers may help predict survival...
  33. Wang Z, Liao K, Zuo W, Liu X, Qiu Z, Gong Z, et al. Depletion of NFBD1/MDC1 Induces Apoptosis in Nasopharyngeal Carcinoma Cells Through the p53-ROS-Mitochondrial Pathway. Oncol Res. 2017;25:123-136 pubmed publisher
    ..Here we investigated its expression in patients with nasopharyngeal carcinoma (NPC), and we describe the biological functions of the NFBD1 gene...
  34. Zhu J, Yang J, Xu Z, Wang J, NuLi Y, Zhuang X, et al. Silicon anodes protected by a nitrogen-doped porous carbon shell for high-performance lithium-ion batteries. Nanoscale. 2017;9:8871-8878 pubmed publisher
    ..Then, core-shell structured Si/nitrogen-doped porous carbon (Si@NPC) spheres were easily produced after high-temperature annealing...
  35. Yang J, Zhao H, Ma Y, Shi G, Song J, Tang Y, et al. Early pathogenic event of Alzheimer's disease documented in iPSCs from patients with PSEN1 mutations. Oncotarget. 2017;8:7900-7913 pubmed publisher
    ..Our study documented previously unappreciated early NPC dysfunction in AD-NPCs, providing valuable new insights into the early mechanisms underlying AD pathogenesis.
  36. Zhang Y, Li W, Liu X, Chen L, Sun R, Sun Y, et al. Nomogram to predict the benefit of additional induction chemotherapy to concurrent chemoradiotherapy in locoregionally advanced nasopharyngeal carcinoma: Analysis of a multicenter, phase III randomized trial. Radiother Oncol. 2018;129:18-22 pubmed publisher
    ..chemotherapy (IC) to concurrent chemoradiotherapy (CCRT) could improve survival in locoregionally advanced NPC (LANPC)...
  37. Zhu X, Sun L, Wang Y. High mobility group box 1 (HMGB1) is upregulated by the Epstein-Barr virus infection and promotes the proliferation of human nasopharyngeal carcinoma cells. Acta Otolaryngol. 2016;136:87-94 pubmed publisher
    ..study confirmed the significant high mobility group box 1 (HMGB1) was promoted in human nasopharyngeal carcinoma (NPC) tissues by Epstein-Barr virus (EBV) infection, in association with the malignant status of NPC, and promoted the ..
  38. Amodeo V, A D, Betts J, Bartesaghi S, Zhang Y, Richard Londt A, et al. A PML/Slit Axis Controls Physiological Cell Migration and Cancer Invasion in the CNS. Cell Rep. 2017;20:411-426 pubmed publisher
    ..protein promyelocytic leukemia (PML), a regulator of forebrain development, promotes neural progenitor/stem cell (NPC) and neuroblast migration in the adult mouse brain...
  39. Ory D. Getting a "Hold" on NPC2. Cell Metab. 2009;10:161-2 pubmed publisher
    Lipoprotein cholesterol is mobilized from lysosomes by actions of the NPC1 and NPC2 proteins. In this issue of Cell Metabolism, Harrison et al...
  40. Alfotih G, Zheng M, Cai W, Xu X, Hu Z, Li F. Surgical techniques in radiation induced temporal lobe necrosis in nasopharyngeal carcinoma patients. Neurol Neurochir Pol. 2016;50:172-9 pubmed publisher
    ..present our experience with surgery on radiation induced temporal lobe necrosis (RTLN) in nasopharyngeal carcinoma (NPC) patients with special consideration of clinical presentation, surgical technique, and outcomes...
  41. He Y, Shen Y, Cao Y, Tang F, Tian D, Huang C, et al. Overexpression of AKR1B10 in nasopharyngeal carcinoma as a potential biomarker. Cancer Biomark. 2016;16:127-35 pubmed publisher
    Nasopharyngeal carcinoma (NPC) is one of the most common cancers in Southern China. Aldo-keto reductase 1B10 (AKR1B10) is upregulated in multiple tumors and plays an oncogenic role...
  42. Colin E, Barth M, Boussion F, Latour P, Piguet Lacroix G, Guichet A, et al. In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History. JIMD Rep. 2016;28:105-110 pubmed
    ..It is caused by mutations in NPC1 or NPC2 genes and leads to systemic and neurodegenerative symptoms...
  43. Goh J, Karandikar A, Loke S, Tan T. Skull base osteomyelitis secondary to malignant otitis externa mimicking advanced nasopharyngeal cancer: MR imaging features at initial presentation. Am J Otolaryngol. 2017;38:466-471 pubmed publisher
    ..base and adjacent soft tissue involvement may be mistaken at initial imaging for advanced nasopharyngeal carcinoma (NPC), especially if there is no prior knowledge of MOE, direct spread from the sphenoid sinus or in atypical ..
  44. Spence J, Krause T, Mittler E, Jangra R, Chandran K. Direct Visualization of Ebola Virus Fusion Triggering in the Endocytic Pathway. MBio. 2016;7:e01857-15 pubmed publisher
    ..GP) to unmask the binding site for its intracellular receptor, the cholesterol transporter Niemann-Pick C1 (NPC1). GP-NPC1 interaction is required for viral entry...
  45. Berry Kravis E, Chin J, Hoffmann A, Winston A, Stoner R, Lagorio L, et al. Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin. Pediatr Neurol. 2018;80:24-34 pubmed publisher
    ..The Niemann-Pick disease type C (NPC) Neurological Severity Scale (NSS) showed stable to slightly improved ratings...
  46. Li X, Yuan H, Quan X, Chen S, you S. Effective adsorption of sulfamethoxazole, bisphenol A and methyl orange on nanoporous carbon derived from metal-organic frameworks. J Environ Sci (China). 2018;63:250-259 pubmed publisher
    ..The present work reports the preparation of an NPC with high surface area (1731m2/g) and pore volume (1...
  47. Chiu C, Sun Y, Bian Y. Cognitive Diagnosis for Small Educational Programs: The General Nonparametric Classification Method. Psychometrika. 2018;83:355-375 pubmed publisher
    ..rate when sample sizes are at the classroom level is proposed as an extension of the nonparametric classification (NPC) method (Chiu and Douglas in J Classif 30:225-250, 2013)...
  48. Reis Pina P, Acharya A, Lawlor P. Cancer Pain With a Neuropathic Component: A Cross-sectional Study of Its Clinical Characteristics, Associated Psychological Distress, Treatments, and Predictors at Referral to a Cancer Pain Clinic. J Pain Symptom Manage. 2018;55:297-306 pubmed publisher
    In patients with cancer pain, identifying a neuropathic pain component (NPC) may inform the selection of subsequent therapeutic interventions...
  49. Kennedy B, Madreiter C, Vishnu N, Malli R, Graier W, Karten B. Adaptations of energy metabolism associated with increased levels of mitochondrial cholesterol in Niemann-Pick type C1-deficient cells. J Biol Chem. 2014;289:16278-89 pubmed publisher
    Niemann-Pick type C1 (NPC1) is a late endosomal transmembrane protein, which, together with NPC2 in the endosome lumen, mediates the transport of endosomal cholesterol to the plasma membrane and endoplasmic reticulum...
  50. Singh Franco D, Jacobs R. Patient perspectives on peripheral neuropathic pain experience within the community. Diabetes Metab Syndr. 2017;11 Suppl 1:S243-S246 pubmed publisher
    Purpose of this cross-sectional study was to explore the relationship between neuropathic physical complaints (NPC) and quality-of-life (QoL) in community-dwelling patients with diabetes in Broward County, Florida...
  51. Kim H, Chun Y, Che L, Kim J, Lee S, Lee S. The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking. Biochem Biophys Res Commun. 2017;482:1367-1374 pubmed publisher
    ..in the intracellular cholesterol trafficking, and its defect is linked to a fatal human neurodegenerative disease, NPC. In this study, we identified that NEGR1 interacts with NPC2 and increases its protein stability...
  52. Franklin E, Perrin R, Vincent B, Baxter M, Morris J, Cairns N. Brain collection, standardized neuropathologic assessment, and comorbidity in Alzheimer's Disease Neuroimaging Initiative 2 participants. Alzheimers Dement. 2015;11:815-22 pubmed publisher
    The Alzheimer's Disease Neuroimaging Initiative Neuropathology Core (ADNI-NPC) facilitates brain donation, ensures standardized neuropathologic assessments, and maintains a tissue resource for research...
  53. Li A, Xiao W, Wang L, Shen G, Xu A, Cao Y, et al. Risk factors and prediction-score model for distant metastasis in nasopharyngeal carcinoma treated with intensity-modulated radiotherapy. Tumour Biol. 2015;36:8349-57 pubmed publisher
    ..the risk factors and construct a prediction-score model for distant metastasis (DM) in nasopharyngeal carcinoma (NPC) patients treated with intensity-modulated radiotherapy (IMRT)...
  54. Valenti D, Rossi L, Marzulli D, Bellomo F, De Rasmo D, Signorile A, et al. Inhibition of Drp1-mediated mitochondrial fission improves mitochondrial dynamics and bioenergetics stimulating neurogenesis in hippocampal progenitor cells from a Down syndrome mouse model. Biochim Biophys Acta Mol Basis Dis. 2017;1863:3117-3127 pubmed publisher
    ..mice -a widely used model of DS - a severe impairment of mitochondrial bioenergetics and biogenesis and reduced NPC proliferation...
  55. Evans W, Nicoli E, Wang R, Movsesyan N, Platt F. Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases. Wellcome Open Res. 2017;2:75 pubmed publisher
    ..NPC disease is a progressive neurodegenerative lysosomal storage disease caused by mutations in either the NPC1 or NPC2 genes...
  56. Long B, Li S, Xue H, Sun L, Kim D, Liu Y. Effects of Propofol Treatment in Neural Progenitors Derived from Human-Induced Pluripotent Stem Cells. Neural Plast. 2017;2017:9182748 pubmed publisher
    ..viability, apoptosis, or proliferation, while propofol at higher concentration (100 or 300??M) decreased NPC viability and induced apoptosis...
  57. Zhai T, van Dijk L, Huang B, Lin Z, Ribeiro C, Brouwer C, et al. Improving the prediction of overall survival for head and neck cancer patients using image biomarkers in combination with clinical parameters. Radiother Oncol. 2017;124:256-262 pubmed publisher
    ..The study cohort was composed of 289 nasopharyngeal cancer (NPC) patients from China and 298 HNC patients from the Netherlands...
  58. Li W, Zhang Y, Huang X, Du X, Tang L, Chen L, et al. Prognostic value of plasma Epstein-Barr virus DNA level during posttreatment follow-up in the patients with nasopharyngeal carcinoma having undergone intensity-modulated radiotherapy. Chin J Cancer. 2017;36:87 pubmed publisher
    ..of Epstein-Barr virus (EBV) DNA assay during posttreatment follow-up of the patients with nasopharyngeal carcinoma (NPC) presenting with different pretreatment plasma EBV DNA levels remains unclear...
  59. Wang Y, Wang C, Chen C, Wu F, Shen P, Zhang P, et al. Long non-coding RNA NEAT1 regulates epithelial membrane protein 2 expression to repress nasopharyngeal carcinoma migration and irradiation-resistance through miR-101-3p as a competing endogenous RNA mechanism. Oncotarget. 2017;8:70156-70171 pubmed publisher
    ..In the current study, cDNA microarray analysis found that NEAT1 expression was reduced in nasopharyngeal carcinoma (NPC) patients and that it regulated NPC progression. However, the detailed mechanisms of NEAT1 in NPC were unclear...
  60. Yang D, Stavrides P, Kumar A, Jiang Y, Mohan P, Ohno M, et al. Cyclodextrin has conflicting actions on autophagy flux in vivo in brains of normal and Alzheimer model mice. Hum Mol Genet. 2017;26:843-859 pubmed publisher
    ..increasing cathepsin D activity, levels of cathepsins B and D and two proteins known to interact with cathepsin D, NPC1 and ABCA1...
  61. Qiu Y, Guo Z, Han L, Yang Y, Li J, Liu S, et al. Network-level dysconnectivity in patients with nasopharyngeal carcinoma (NPC) early post-radiotherapy: longitudinal resting state fMRI study. Brain Imaging Behav. 2017;: pubmed publisher
    ..with irradiation dose and cognition changes in the early stage post radiotherapy (RT) in nasopharyngeal carcinoma (NPC) patients...
  62. Qin E, Cooper D, Abbott K, Lennon J, Nagaraja S, Mackay A, et al. Neural Precursor-Derived Pleiotrophin Mediates Subventricular Zone Invasion by Glioma. Cell. 2017;170:845-859.e19 pubmed publisher
    ..We demonstrate that neural precursor cell (NPC):glioma cell communication underpins this propensity of glioma to colonize the SVZ through secretion of ..
  63. Yang H, Chen X, Lin S, Rong J, Yang M, Wen Q, et al. Treatment outcomes after reduction of the target volume of intensity-modulated radiotherapy following induction chemotherapy in patients with locoregionally advanced nasopharyngeal carcinoma: A prospective, multi-center, randomized clinical trial. Radiother Oncol. 2018;126:37-42 pubmed publisher
    ..induction chemotherapy (IC) improves the quality of life (QOL) in locoregionally advanced nasopharyngeal carcinoma (NPC) without decreasing the local control and survival rate...
  64. Tsao S, Tsang C, Lo K. Epstein-Barr virus infection and nasopharyngeal carcinoma. Philos Trans R Soc Lond B Biol Sci. 2017;372: pubmed publisher
    ..The closest association with EBV infection is seen in undifferentiated nasopharyngeal carcinoma (NPC), which is endemic in the southern Chinese population...
  65. Evers B, Rodriguez Navas C, Tesla R, Prange Kiel J, Wasser C, Yoo K, et al. Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency. Cell Rep. 2017;20:2565-2574 pubmed publisher
    ..defines many neurodegenerative diseases, such as neuronal ceroid lipofuscinoses (NCL) and Niemann-Pick type C (NPC), and is implicated in Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD-TDP) with progranulin (..
  66. Xu L, Huang T, Hu H, Wang M, Shi S, Yang Q, et al. The developmental transcription factor IRF6 attenuates ABCG2 gene expression and distinctively reverses stemness phenotype in nasopharyngeal carcinoma. Cancer Lett. 2018;431:230-243 pubmed publisher
    Nasopharyngeal carcinoma (NPC), which originates from the nasopharynx, is highly prevalent in Southern China and Southeast Asia, and more than 90% of all NPCs are non-keratinizing undifferentiated cells or poorly differentiated squamous ..
  67. Zhao Y, Ren J, Harlos K, Stuart D. Structure of glycosylated NPC1 luminal domain C reveals insights into NPC2 and Ebola virus interactions. FEBS Lett. 2016;590:605-12 pubmed publisher
    Niemann-pick type C1 (NPC1) is an endo/lysosomal membrane protein involved in intracellular cholesterol trafficking, and its luminal domain C is an essential endosomal receptor for Ebola and Marburg viruses...
  68. Albert M, Kalebic N, Florio M, Lakshmanaperumal N, Haffner C, Brandl H, et al. Epigenome profiling and editing of neocortical progenitor cells during development. EMBO J. 2017;36:2642-2658 pubmed publisher
    ..To understand the complex layer of regulation that orchestrates different NPC types from the same DNA sequence, epigenome maps with cell type resolution are required...
  69. Chen H, Chen S, Lu J, Wang X, Li J, Li L, et al. Multiparametric Detection of Antibodies against Different EBV Antigens to Predict Risk for Nasopharyngeal Carcinoma in a High-Risk Population of China. Cancer Prev Res (Phila). 2017;10:542-550 pubmed publisher
    ..Epstein-Barr virus (EBV) antigens to develop a model for screening and diagnosis of nasopharyngeal carcinoma (NPC)...
  70. Huang S, Mao J, Ding K, Zhou Y, Zeng X, Yang W, et al. Polysaccharides from Ganoderma lucidum Promote Cognitive Function and Neural Progenitor Proliferation in Mouse Model of Alzheimer's Disease. Stem Cell Reports. 2017;8:84-94 pubmed publisher
    ..lucidum promoted neural progenitor cell (NPC) proliferation to enhance neurogenesis and alleviated cognitive deficits in transgenic AD mice. G...
  71. Saito K, Kawasoe R, Sasaki H, Kawaguchi A, Miyata T. Neural Progenitor Cells Undergoing Yap/Tead-Mediated Enhanced Self-Renewal Form Heterotopias More Easily in the Diencephalon than in the Telencephalon. Neurochem Res. 2018;43:171-180 pubmed publisher
    ..e., formation of NPC heterotopias, can disrupt the overall structure of the brain...
  72. Yang Q, Zhang M, Zou X, Liu Y, You R, Yu T, et al. A Prognostic Bio-Model Based on SQSTM1 and N-Stage Identifies Nasopharyngeal Carcinoma Patients at High Risk of Metastasis for Additional Induction Chemotherapy. Clin Cancer Res. 2018;24:648-658 pubmed publisher
    b>Purpose: Metastasis is one of the most important causes of treatment failure in nasopharyngeal carcinoma (NPC)...
  73. Morris J, Zhang D, Coleman K, Nagle J, Pentchev P, Carstea E. The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene. Biochem Biophys Res Commun. 1999;261:493-8 pubmed
    ..The transcript is 4.9 kb encoding a 1278-amino-acid protein. We have defined the genomic structure of NPC1 along with the 5' flanking sequence. The NPC1 gene spans greater than 47 kb and contains 25 exons...
  74. Matsuda M, Rand K, Palardy G, Shimizu N, Ikeda H, Dalle Nogare D, et al. Epb41l5 competes with Delta as a substrate for Mib1 to coordinate specification and differentiation of neurons. Development. 2016;143:3085-96 pubmed publisher
    ..This, we suggest, helps coordinate NPC specification with Epb41l5-dependent delamination and differentiation as neurons.
  75. Patel S, Suresh S, Kumar U, Hu C, Cooney A, Blanchette Mackie E, et al. Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann- Pick type C disease. Proc Natl Acad Sci U S A. 1999;96:1657-62 pubmed
    ..Most cases of NP-C result from inactivating mutations of NPC1, a recently identified member of a family of genes encoding membrane-bound proteins containing putative sterol ..
  76. König J, Besoke F, Stuetz W, Malarski A, Jahreis G, Grune T, et al. Quantification of age-related changes of ?-tocopherol in lysosomal membranes in murine tissues and human fibroblasts. Biofactors. 2016;42:307-15 pubmed publisher
    ..Toc concentrations in isolated lysosomes and the expression of the ?-Toc transport proteins Niemann Pick C1 (NPC1), Niemann Pick C2 (NPC2), and lipoprotein lipase were also analyzed...
  77. Adams R, Mason A, Glass L, Aditi -, Wente S. Nup42 and IP6 coordinate Gle1 stimulation of Dbp5/DDX19B for mRNA export in yeast and human cells. Traffic. 2017;18:776-790 pubmed publisher
    ..As mRNPs exit the nuclear pore complex (NPC) in Saccharomyces cerevisiae, this remodeling occurs through activation of Dbp5 by inositol hexakisphosphate (IP<..
  78. Wang M, Liu G, Shan G, Wang B. In Vivo and In Vitro Effects of ATM/ATR Signaling Pathway on Proliferation, Apoptosis, and Radiosensitivity of Nasopharyngeal Carcinoma Cells. Cancer Biother Radiopharm. 2017;32:193-203 pubmed publisher
    ..signaling pathway to influence the proliferation, apoptosis, and radiosensitivity of nasopharyngeal carcinoma (NPC) cells. NPC tissues and corresponding adjacent normal tissues were collected from 143 NPC patients...
  79. Ng M, Ndungo E, Jangra R, Cai Y, Postnikova E, Radoshitzky S, et al. Cell entry by a novel European filovirus requires host endosomal cysteine proteases and Niemann-Pick C1. Virology. 2014;468-470:637-46 pubmed publisher
    ..The EBOV/MARV receptor, Niemann-Pick C1 (NPC1), is also required for LLOV entry, and its second luminal domain is recognized with high affinity by a cleaved form ..
  80. Otsuka S, Ellenberg J. Mechanisms of nuclear pore complex assembly - two different ways of building one molecular machine. FEBS Lett. 2017;: pubmed publisher
    The nuclear pore complex (NPC) mediates all macromolecular transport across the nuclear envelope...