| 1 | NEGR1, NPC2
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| The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking.
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| Kim H, Chun Y, Che L, Kim J, Lee S, Lee S.
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| Biochem Biophys Res Commun. Jan 22;482(4):1367-1374. doi: 10.1016/j.bbrc.2016.12.043. Epub 2016 Dec 9 2017
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| 2 | 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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| 3 | 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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| 4 | NPC2
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| Niemann-Pick Type C2 protein contributes to the transport of endosomal cholesterol to mitochondria without interacting with NPC1.
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| Kennedy BE, Charman M, Karten B.
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| J Lipid Res 53(12):2632-42. doi: 10.1194/jlr.M029942. Epub 2012 Sep 7.
2012
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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | NPC2
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| NPC2 regulates biliary cholesterol secretion via stimulation of ABCG5/G8-mediated cholesterol transport.
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| Yamanashi Y, Takada T, Yoshikado T, Shoda J, Suzuki H.
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| Gastroenterology 140(5):1664-74. doi: 10.1053/j.gastro.2011.01.050. Epub 2011 Mar 21.
2011
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| 11 | NPC2
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| Somatic cell plasticity and Niemann-Pick type C2 protein: fibroblast activation.
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| Csepeggi C, Jiang M, Kojima F, Crofford LJ, Frolov A.
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| J Biol Chem 286(3):2078-87. doi: 10.1074/jbc.M110.135897. Epub 2010 Nov 17.
2011
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| 12 | ABCG5, ABCG8, NPC2
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| NPC2 regulates biliary cholesterol secretion via stimulation of ABCG5/G8-mediated cholesterol transport.
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| Yamanashi Y, Takada T, Yoshikado T, Shoda J, Suzuki H.
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| Gastroenterology 140(5):1664-74. doi: 10.1053/j.gastro.2011.01.050. Epub 2011 Mar 21.
2011
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| 13 | 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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| 14 | NPC2
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| Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis.
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| Griese M, Brasch F, Aldana VR, Cabrera MM, Goelnitz U, Ikonen E, Karam BJ, Liebisch G, Linder MD, Lohse P, Meyer W, Schmitz G, Pamir A, Ripper J, Rolfs A, Schams A, Lezana FJ.
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| Clin Genet 77(2):119-30. Epub 2009 Dec 10.PMID: 2000245 2010
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| 15 | 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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| 16 | NPC2
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| Role of endosomal membrane lipids and NPC2 in cholesterol transfer and membrane fusion.
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| Abdul-Hammed M, Breiden B, Adebayo MA, Babalola JO, Schwarzmann G, Sandhoff K.
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| J Lipid Res 51(7):1747-60. doi: 10.1194/jlr.M003822. Epub 2010 Feb 23.
2010
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| 17 | 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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| 18 | NEDD4L, NPC2, SCNN1A
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| Identification of NPC2 protein as interaction molecule with C2 domain of human Nedd4L.
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| Araki N, Ishigami T, Ushio H, Minegishi S, Umemura M, Miyagi Y, Aoki I, Morinaga H, Tamura K, Toya Y, Uchino K, Umemura S.
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| Biochem Biophys Res Commun 388(2):290-6. Epub 2009 Aug 5.PMID: 19664597 2009
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| 19 | NPC2, NUS1
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| Nogo-B receptor stabilizes Niemann-Pick type C2 protein and regulates intracellular cholesterol trafficking.
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| Harrison KD, Miao RQ, Fernandez-Hernándo C, Suárez Y, Dávalos A, Sessa WC.
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| Cell Metab 10(3):208-18.
2009
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| 20 | NPC2
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| Regulation of sterol transport between membranes and NPC2.
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| Xu Z, Farver W, Kodukula S, Storch J.
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| Biochemistry 47(42):11134-43. Epub 2008 Sep 30.
2008
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| 21 | NPC2
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| Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
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| Verot L, Chikh K, Freydiere E, Honore R, Vanier M, Millat G.
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| Clin Genet 71(4):320-30. 2007
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| 22 | 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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| 23 | NPC2
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| NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols.
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| Liou HL, Dixit SS, Xu S, Tint GS, Stock AM, Lobel P.
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| J Biol Chem 281(48):36710-23. Epub 2006 Oct 2.
2006
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| 24 | NPC2
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| Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
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| Chikh K, Rodriguez C, Vey S, Vanier MT, Millat G.
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| Hum Mutat 26(1):20-8. 2005
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| 25 | DHDDS,NPC2
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| In vivo interaction between the human dehydrodolichyl diphosphate synthase and the Niemann-Pick C2 protein revealed by a yeast two-hybrid system.
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| Kharel Y, Takahashi S, Yamashita S, Koyama T.
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| Biochem Biophys Res Commun 318(1):198-203. 2004
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| 26 | NPC2
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| Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein.
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| Chikh K, Vey S, Simonot C, Vanier MT, Millat G.
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| Mol Genet Metab 83(3):220-30.
2004
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| 27 | NPC2
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| Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.
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| Millat G, Chikh K, Naureckiene S, Sleat DE, Fensom AH, Higaki K, Elleder M, Lobel P, Vanier MT.
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| Am J Hum Genet 69(5):1013-21. 2001
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| 28 | NPC2
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| Identification of HE1 as the second gene of niemann-pick C disease.
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| Naureckiene S, Sleat DE, Lackland H, Fensom A, Vanier MT, Wattiaux R, Jadot M, Lobel P.
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| Science 290(5500):2298-301. 2000
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| 29 | NPC2
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| Role of epididymal secretory proteins in sperm maturation with particular reference to the boar.
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| Dacheux JL, Druart X, Fouchecourt S, Syntin P, Gatti JL, Okamura N, Dacheux F.
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| J Reprod Fertil Suppl 53:99-107. Review. 1998
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| 30 | NPC2
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| Molecular cloning and characterization of HE1, a major secretory protein of the human epididymis.
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| Kirchhoff C, Osterhoff C, Young L.
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| Biol Reprod 54(4):847-56. 1996
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| 31 | CD52 , NPC2
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| Region-specific variation of gene expression in the human epididymis as revealed by in situ hybridization with tissue-specific cDNAs.
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| Krull N, Ivell R, Osterhoff C, Kirchhoff C.
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| Mol Reprod Dev 34(1):16-24. 1993
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