| 1 | GRAMD1B, NPC1
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| NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress.
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| Höglinger D, Burgoyne T, Sanchez-Heras E, Hartwig P, Colaco A, Newton J, Futter CE, Spiegel S, Platt FM, Eden ER.
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| Nat Commun 10(1):4276. doi: 10.1038/s41467-019-12152-2.
2019
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| 2 | MTOR, NPC1, SLC38A9
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| Lysosomal cholesterol activates mTORC1 via an SLC38A9-Niemann-Pick C1 signaling complex
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| Castellano BM, Thelen AM, Moldavski O, Feltes M, van der Welle RE, Mydock-McGrane L, Jiang X, van Eijkeren RJ, Davis OB, Louie SM, Perera RM, Covey DF, Nomura DK, Ory DS, Zoncu R.
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| Science. Mar 24;355(6331):1306-1311. doi: 10.1126/science.aag1417. 2017
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| 3 | CTSD, NPC1
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| Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1.
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| Macías-Vidal J, Guerrero-Hernández M, Estanyol JM, Aguado C, Knecht E, Coll MJ, Bachs O.
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| Proteomics 16(1):150-8. doi: 10.1002/pmic.201500110. Epub 2015 Dec 15.
2016
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| 4 | NPC1, NPC2
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| NPC1 in human white adipose tissue and obesity.
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| Bambace C, Dahlman I, Arner P, Kulyté A.
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| BMC Endocr Disord 13:5. doi: 10.1186/1472-6823-13-5.
2013
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| 5 | NPC1
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| NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.
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| Louwette S, Régal L, Wittevrongel C, Thys C, Vandeweeghde G, Decuyper E, Leemans P, De Vos R, Van Geet C, Jaeken J, Freson K.
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| Hum Mol Genet 22(1):61-73. doi: 10.1093/hmg/dds401. Epub 2012 Sep 24.
2013
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| 6 | NPC1
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| Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1.
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| Ordonez MP, Roberts EA, Kidwell CU, Yuan SH, Plaisted WC, Goldstein LS.
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| Hum Mol Genet 21(12):2651-62. doi: 10.1093/hmg/dds090. Epub 2012 Mar 21.
2012
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| 7 | ABCA1, NPC1, NPC2
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| ABCA1-dependent mobilization of lysosomal cholesterol requires functional Niemann-Pick C2 but not Niemann-Pick C1 protein.
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| Boadu E, Nelson RC, Francis GA.
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| Biochim Biophys Acta 1821(3):396-404. doi: 10.1016/j.bbalip.2011.11.013. Epub 2011 Dec 10.
2012
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| 8 | NPC1
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| Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann-Pick type C disease fibroblasts.
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| Yu T, Chung C, Shen D, Xu H, Lieberman AP.
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| Hum Mol Genet 21(14):3205-14. doi: 10.1093/hmg/dds145. Epub 2012 Apr 14.
2012
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| 9 | NPC1, NPC2
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| Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease.
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| Elrick MJ, Yu T, Chung C, Lieberman AP.
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| Hum Mol Genet 21(22):4876-87. doi: 10.1093/hmg/dds324. Epub 2012 Aug 7.
2012
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| 10 | NPC1, NPC2
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| Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches.
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| Rosenbaum AI, Maxfield FR.
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| J Neurochem 116(5):789-95. doi: 10.1111/j.1471-4159.2010.06976.x. Epub 2011 Jan 7. Review.
2011
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| 11 | NPC1
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| Molecular analysis of 30 Niemann-Pick type C patients from Spain.
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| Macías-Vidal J, Rodríguez-Pascau L, Sánchez-Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ; Spanish NPC Working Group.
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| Clin Genet 80(1):39-49. doi: 10.1111/j.1399-0004.2010.01504.x. Epub 2010 Jul 6.
2011
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| 12 | NPC1, NPC2
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| Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding.
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| Deffieu MS, Pfeffer SR.
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| Proc Natl Acad Sci U S A 108(47):18932-6. doi: 10.1073/pnas.1110439108. Epub 2011 Nov 7.
2011
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| 13 | NPC1
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| Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration.
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| Yu T, Shakkottai VG, Chung C, Lieberman AP.
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| Hum Mol Genet 20(22):4440-51. doi: 10.1093/hmg/ddr372. Epub 2011 Aug 19.
2011
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| 14 | NPC1, NPC2
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| Loss of Niemann-Pick C1 or C2 protein results in similar biochemical changes suggesting that these proteins function in a common lysosomal pathway.
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| Dixit SS, Jadot M, Sohar I, Sleat DE, Stock AM, Lobel P.
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| PLoS One 6(8):e23677. doi: 10.1371/journal.pone.0023677. Epub 2011 Aug 24.
2011
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| 15 | NPC1
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| The cholesterol trafficking protein NPC1 is required for Drosophila spermatogenesis.
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| Wang C, Ma Z, Scott MP, Huang X.
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| Dev Biol 351(1):146-55. doi: 10.1016/j.ydbio.2010.12.042. Epub 2011 Jan 4.
2011
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| 16 | NPC1, NPC2
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| Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.
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| Zhou S, Davidson C, McGlynn R, Stephney G, Dobrenis K, Vanier MT, Walkley SU.
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| Am J Pathol 179(2):890-902. doi: 10.1016/j.ajpath.2011.04.017. Epub 2011 Jun 2.
2011
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| 17 | NPC1, NPC2
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| Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo.
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| Goldman SD, Krise JP.
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| J Biol Chem 285(7):4983-94. Epub 2009 Dec 10.
2010
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| 18 | NPC1
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| Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration.
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| Elrick MJ, Pacheco CD, Yu T, Dadgar N, Shakkottai VG, Ware C, Paulson HL, Lieberman AP.
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| Hum Mol Genet 19(5):837-47. Epub 2009 Dec 10.PMID: 20007718 2010
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| 19 | NPC1
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| Niemann-Pick type C fibroblasts have a distinct microRNA profile related to lipid metabolism and certain cellular components.
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| Ozsait B, Komurcu-Bayrak E, Levula M, Erginel-Unaltuna N, Kähönen M, Rai M, Lehtimäki T, Laaksonen R.
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| Biochem Biophys Res Commun 403(3-4):316-21. Epub 2010 Nov 12.
2010
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| 20 | NPC1, NPC2
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| Identification of surface residues on Niemann-Pick C2 essential for hydrophobic handoff of cholesterol to NPC1 in lysosomes.
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| Wang ML, Motamed M, Infante RE, Abi-Mosleh L, Kwon HJ, Brown MS, Goldstein JL.
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| Cell Metab 12(2):166-73. doi: 10.1016/j.cmet.2010.05.016.
2010
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| 21 | NPC1
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| Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis.
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| Pacheco CD, Elrick MJ, Lieberman AP.
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| Hum Mol Genet 18(5):956-65. Epub 2008 Dec 12.
2009
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| 22 | NPC1, NPC2
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| Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol.
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| Kwon HJ, Abi-Mosleh L, Wang ML, Deisenhofer J, Goldstein JL, Brown MS, Infante RE.
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| Cell 137(7):1213-24.
2009
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| 23 | HMGCR, NPC1, NPC1L1, SCAP
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| Membrane topology of human NPC1L1, a key protein in enterohepatic cholesterol absorption.
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| Wang J, Chu BB, Ge L, Li BL, Yan Y, Song BL.
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| J Lipid Res 50(8):1653-62. Epub 2009 Mar 26.PMID: 19325169 2009
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| 24 | NPC1
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| Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium.
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| Lloyd-Evans E, Morgan AJ, He X, Smith DA, Elliot-Smith E, Sillence DJ, Churchill GC, Schuchman EH, Galione A, Platt FM.
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| Nat Med 14(11):1247-55. Epub 2008 Oct 26.
2008
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| 25 | NPC1
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| Niemann-Pick C1 functions in regulating lysosomal amine content.
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| Kaufmann AM, Krise JP.
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| J Biol Chem 283(36):24584-93. Epub 2008 Jun 30.
2008
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| 26 | NPC1
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| The Niemann-Pick C1 gene is downregulated by feedback inhibition of the SREBP pathway in human fibroblasts.
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| Garver WS, Jelinek D, Francis GA, Murphy BD.
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| J Lipid Res 49(5):1090-102. Epub 2008 Feb 13.PMID: 18272927 2008
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| 27 | NPC1
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| Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations.
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| Klarner B, Klunemann HH, Lurding R, Aslanidis C, Rupprecht R.
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| J Inherit Metab Dis 30(1):60-7. Epub 2006 Dec 11. 2007
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| 28 | NPC1, NPC1L1
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| Human NPC1L1 and NPC1 can functionally substitute for the ncr genes to promote reproductive development in C. elegans.
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| Smith MM, Levitan DJ.
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| Biochim Biophys Acta 1770(9):1345-51. Epub 2007 Jun 22.PMID: 17662536 2007
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| 29 | NPC1
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| Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency.
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| Tamura H, Takahashi T, Ban N, Torisu H, Ninomiya H, Takada G, Inagaki N.
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| Mol Genet Metab 87(2):113-21. Epub 2005 Sep 6. 2006
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| 30 | NPC1, NPC2
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| Lipid imbalance in the neurological disorder, Niemann-Pick C disease.
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| Vance JE.
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| FEBS Lett 580(23):5518-24. Epub 2006 Jun 15. Review. 2006
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| 31 | NPC1
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| Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
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| Fernandez-Valero EM, Ballart A, Iturriaga C, Lluch M, Macias J, Vanier MT, Pineda M, Coll MJ.
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| Clin Genet 68(3):245-54. 2005
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| 32 | ATP7B, RAB7A, NPC1
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| The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein.
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| Harada M, Kawaguchi T, Kumemura H, Terada K, Ninomiya H, Taniguchi E, Hanada S, Baba S, Maeyama M, Koga H, Ueno T, Furuta K, Suganuma T, Sugiyama T, Sata M.
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| Am J Pathol 166(2):499-510. 2005
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| 33 | DHCR7, HMGCR, NPC1, PTCH1, PTCH2, SCAP
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| The sterol-sensing domain: multiple families, a unique role?
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| Kuwabara PE, Labouesse M.
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| Trends Genet 18(4):193-201. 2002
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| 34 | NPC1
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| NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
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| Bauer P, Knoblich R, Bauer C, Finckh U, Hufen A, Kropp J, Braun S, Kustermann-Kuhn B, Schmidt D, Harzer K, Rolfs A.
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| Hum Mutat 19(1):30-8. 2002
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| 35 | NPC1
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| Niemann-Pick C1 protein regulates cholesterol transport to the trans-Golgi network and plasma membrane caveolae.
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| Garver WS, Krishnan K, Gallagos JR, Michikawa M, Francis GA, Heidenreich RA.
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| J Lipid Res 43(4):579-89. 2002
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| 36 | NPC1
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| Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease.
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| Zhang M, Dwyer NK, Love DC, Cooney A, Comly M, Neufeld E, Pentchev PG, Blanchette-Mackie EJ, Hanover JA.
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| Proc Natl Acad Sci U S A 98(8):4466-71. 2001
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| 37 | NPC1
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| Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
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| Ribeiro I, Marcao A, Amaral O, Sa Miranda MC, Vanier MT, Millat G.
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| Hum Genet 109(1):24-32. 2001
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| 38 | NPC1
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| 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.
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| Millat G, Marcais C, Tomasetto C, Chikh K, Fensom AH, Harzer K, Wenger DA, Ohno K, Vanier MT.
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| Am J Hum Genet 68(6):1373-85. 2001
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| 39 | NPC1, NPC1L1
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| The structure and function of the niemann-pick C1 protein.
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| Ioannou YA.
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| Mol Genet Metab 71(1-2):175-81. 2000
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| 40 | NPC1
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| Transmembrane molecular pump activity of niemann-pick C1 protein.
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| Davies JP, Chen FW, Ioannou YA.
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| Science 290(5500):2295-8. 2000
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| 41 | B4GALNT1, NPC1
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| Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse.
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| Liu Y, Wu YP, Wada R, Neufeld EB, Mullin KA, Howard AC, Pentchev PG, Vanier MT, Suzuki K, Proia RL.
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| Hum Mol Genet 9(7):1087-92. 2000
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| 42 | NPC1
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| Localization of Niemann-Pick C1 protein in astrocytes : implications for neuronal degeneration in Niemann-Pick type C disease.
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| Patel SC, et al.
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| Proc Natl Acad Sci U S A 96 : 1657-1662. 1999
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| 43 | NPC1
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| Niemann-Pick C1 protein : obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization.
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| Watari H, et al.
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| Proc Natl Acad Sci U S A 96 : 805-810. 1999
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| 44 | NPC1
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| Complementation studies in human and feline niemann-pick type C disease.
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| Somers KL, et al.
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| Mol Genet Metab 66(2):117-21. 1999
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| 45 | NPC1
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| Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization.
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| Watari H, et al.
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| Proc Natl Acad Sci U S A 96(3):805-10. 1999
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| 46 | NPC1
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| Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann- Pick type C disease.
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| Patel SC, et al.
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| Proc Natl Acad Sci U S A 96(4):1657-62. 1999
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| 47 | NPC1
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| NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
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| Yamamoto T, et al.
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| Hum Genet 105(1-2):10-6. 1999
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| 48 | NPC1
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| Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein.
|
| Watari H, et al.
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| J Biol Chem 274(31):21861-6 1999
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| 49 | NPC1
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| The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene.
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| Morris JA, Zhang D, Coleman KG, Nagle J, Pentchev PG, Carstea ED.
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| Biochem Biophys Res Commun 261(2):493-8 1999
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| 50 | NPC1
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| Mutations in NPC1 Highlight a Conserved NPC1-Specific Cysteine-Rich Domain.
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| Greer WL, Dobson MJ, Girouard GS, Byers DM, Riddell DC, Neumann PE.
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| Am J Hum Genet 65(5):1252-1260 1999
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| 51 | NPC1
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| 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.
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| Millat G, Marcais C, Rafi MA, Yamamoto T, Morris JA, Pentchev PG, Ohno K, Wenger DA, Vanier MT.
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| Am J Hum Genet 65(5):1321-1329 1999
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| 52 | NPC1, NPD
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| The Nova Scotia (type D) form of Niemman-Pick disease is caused by a G3097-T transversion in NPC1.
|
| Greer WL, et al.
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| Am J Hum Genet 63 : 52-54. 1998
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| 53 | NPC1
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| A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C.
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| Akaboshi S, et al.
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| Hum Genet 99 : 350-353. 1997
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| 54 | NPC1
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| Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementation.
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| Gu JZ, Carstea ED, Cummings C, Morris JA, Loftus SK, Zhang D, Coleman KG, Cooney AM, Comly ME, Fandino L, Roff C, Tagle DA, Pavan WJ, Pentchev PG, Rosenfeld MA.
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| Proc Natl Acad Sci U S A 94(14):7378-83. 1997
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| 55 | NPC1
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| Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
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| Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY, Liscum L, Strauss JF 3rd, Ohno K, Zeigler M, Carmi R, Sokol J, Markie D, O'Neill RR, van Diggelen OP, Elleder M, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA.
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| Science 277(5323):228-31. 1997
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| 56 | NPC1
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| Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.
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| Loftus SK, Morris JA, Carstea ED, Gu JZ, Cummings C, Brown A, Ellison J, Ohno K, Rosenfeld MA, Tagle DA, Pentchev PG, Pavan WJ.
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| Science 277(5323):232-5. 1997
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| 57 | NPC1
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| Genetic heterogeneity in Niemann-Pick C disease : a study using somatic cell hybridization and linkage analysis.
|
| Vanier MT, et al.
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| Am J Hum Genet 58 : 118-125. 1996
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| 58 | NPC1
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| Linkage of Niemann-Pick disease type C to human chromosome 18.
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| Carstea ED, et al.
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| Proc Natl Acad Sci U S A 90 : 2002-2004. 1993
|