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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. Among authors: pentchev pg. Science. 1997 Jul 11;277(5323):228-31. doi: 10.1126/science.277.5323.228. Science. 1997. PMID: 9211849
Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol.
Argoff CE, Comly ME, Blanchette-Mackie J, Kruth HS, Pye HT, Goldin E, Kaneski C, Vanier MT, Brady RO, Pentchev PG. Argoff CE, et al. Among authors: pentchev pg. Biochim Biophys Acta. 1991 Jun 5;1096(4):319-27. doi: 10.1016/0925-4439(91)90068-k. Biochim Biophys Acta. 1991. PMID: 2065103
Niemann-Pick disease types C and D.
Brady RO, Filling-Katz MR, Barton NW, Pentchev PG. Brady RO, et al. Among authors: pentchev pg. Neurol Clin. 1989 Feb;7(1):75-88. Neurol Clin. 1989. PMID: 2646522 Review.
Clinical spectrum of Niemann-Pick disease type C.
Fink JK, Filling-Katz MR, Sokol J, Cogan DG, Pikus A, Sonies B, Soong B, Pentchev PG, Comly ME, Brady RO, et al. Fink JK, et al. Among authors: pentchev pg. Neurology. 1989 Aug;39(8):1040-9. doi: 10.1212/wnl.39.8.1040. Neurology. 1989. PMID: 2761697
138 results