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Mutation analysis of feline Niemann-Pick C1 disease.
Somers KL, Royals MA, Carstea ED, Rafi MA, Wenger DA, Thrall MA. Somers KL, et al. Among authors: carstea ed. Mol Genet Metab. 2003 Jun;79(2):99-103. doi: 10.1016/s1096-7192(03)00074-x. Mol Genet Metab. 2003. PMID: 12809639
Mutagenesis of the putative sterol-sensing domain of yeast Niemann Pick C-related protein reveals a primordial role in subcellular sphingolipid distribution.
Malathi K, Higaki K, Tinkelenberg AH, Balderes DA, Almanzar-Paramio D, Wilcox LJ, Erdeniz N, Redican F, Padamsee M, Liu Y, Khan S, Alcantara F, Carstea ED, Morris JA, Sturley SL. Malathi K, et al. Among authors: carstea ed. J Cell Biol. 2004 Feb 16;164(4):547-56. doi: 10.1083/jcb.200310046. J Cell Biol. 2004. PMID: 14970192 Free PMC article.
The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo.
Neufeld EB, Wastney M, Patel S, Suresh S, Cooney AM, Dwyer NK, Roff CF, Ohno K, Morris JA, Carstea ED, Incardona JP, Strauss JF 3rd, Vanier MT, Patterson MC, Brady RO, Pentchev PG, Blanchette-Mackie EJ. Neufeld EB, et al. Among authors: carstea ed. J Biol Chem. 1999 Apr 2;274(14):9627-35. doi: 10.1074/jbc.274.14.9627. J Biol Chem. 1999. PMID: 10092649 Free article.
Intracellular trafficking of the free cholesterol derived from LDL cholesteryl ester is defective in vivo in Niemann-Pick C disease: insights on normal metabolism of HDL and LDL gained from the NP-C mutation.
Shamburek RD, Pentchev PG, Zech LA, Blanchette-Mackie J, Carstea ED, VandenBroek JM, Cooper PS, Neufeld EB, Phair RD, Brewer HB Jr, Brady RO, Schwartz CC. Shamburek RD, et al. Among authors: carstea ed. J Lipid Res. 1997 Dec;38(12):2422-35. J Lipid Res. 1997. PMID: 9458266 Free article.
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
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. Carstea ED, et al. Science. 1997 Jul 11;277(5323):228-31. doi: 10.1126/science.277.5323.228. Science. 1997. PMID: 9211849
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