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Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementation.
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. Gu JZ, et al. Among authors: carstea ed. Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7378-83. doi: 10.1073/pnas.94.14.7378. Proc Natl Acad Sci U S A. 1997. PMID: 9207099 Free PMC 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
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.
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.
Neurofibrillary tangles in Niemann-Pick disease type C.
Suzuki K, Parker CC, Pentchev PG, Katz D, Ghetti B, D'Agostino AN, Carstea ED. Suzuki K, et al. Among authors: carstea ed. Acta Neuropathol. 1995;89(3):227-38. doi: 10.1007/BF00309338. Acta Neuropathol. 1995. PMID: 7754743
21 results