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Niemann-Pick C disease: cholesterol handling gone awry.
Morris JA, Carstea ED. Morris JA, et al. Among authors: carstea ed. Mol Med Today. 1998 Dec;4(12):525-31. doi: 10.1016/s1357-4310(98)01374-4. Mol Med Today. 1998. PMID: 9866822 Review.
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.
Positional cloning utilizing genomic DNA microarrays: the Niemann-Pick type C gene as a model system.
Stephan DA, Chen Y, Jiang Y, Malechek L, Gu JZ, Robbins CM, Bittner ML, Morris JA, Carstea E, Meltzer PS, Adler K, Garlick R, Trent JM, Ashlock MA. Stephan DA, et al. Mol Genet Metab. 2000 May;70(1):10-8. doi: 10.1006/mgme.2000.2989. Mol Genet Metab. 2000. PMID: 10833327
The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene.
Morris JA, Zhang D, Coleman KG, Nagle J, Pentchev PG, Carstea ED. Morris JA, et al. Among authors: carstea ed. Biochem Biophys Res Commun. 1999 Aug 2;261(2):493-8. doi: 10.1006/bbrc.1999.1070. Biochem Biophys Res Commun. 1999. PMID: 10425213
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.
Complementation studies in human and feline Niemann-Pick type C disease.
Somers KL, Wenger DA, Royals MA, Carstea ED, Connally HE, Kelly T, Kimball R, Thrall MA. Somers KL, et al. Among authors: carstea ed. Mol Genet Metab. 1999 Feb;66(2):117-21. doi: 10.1006/mgme.1998.2778. Mol Genet Metab. 1999. PMID: 10068514
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.
Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.
Loftus SK, Morris JA, Carstea ED, Gu JZ, Cummings C, Brown A, Ellison J, Ohno K, Rosenfeld MA, Tagle DA, Pentchev PG, Pavan WJ. Loftus SK, et al. Among authors: carstea ed. Science. 1997 Jul 11;277(5323):232-5. doi: 10.1126/science.277.5323.232. Science. 1997. PMID: 9211850
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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