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Biological implications of the Niemann-Pick C mutation.
Pentchev PG, Blanchette-Mackie EJ, Liscum L. Pentchev PG, et al. Subcell Biochem. 1997;28:437-51. doi: 10.1007/978-1-4615-5901-6_14. Subcell Biochem. 1997. PMID: 9090302 Review. No abstract available.
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
Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes.
Blanchette-Mackie EJ, Dwyer NK, Amende LM, Kruth HS, Butler JD, Sokol J, Comly ME, Vanier MT, August JT, Brady RO, et al. Blanchette-Mackie EJ, et al. Proc Natl Acad Sci U S A. 1988 Nov;85(21):8022-6. doi: 10.1073/pnas.85.21.8022. Proc Natl Acad Sci U S A. 1988. PMID: 3186703 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. 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.
81 results