نتایج جستجو برای: pick c

تعداد نتایج: 1066027  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2016
Xiaochun Li Piyali Saha Jian Li Günter Blobel Suzanne R Pfeffer

Export of LDL-derived cholesterol from lysosomes requires the cooperation of the integral membrane protein Niemann-Pick C1 (NPC1) and a soluble protein, Niemann-Pick C2 (NPC2). Mutations in the genes encoding these proteins lead to Niemann-Pick disease type C (NPC). NPC2 binds to NPC1's second (middle), lumenally oriented domain (MLD) and transfers cholesterol to NPC1's N-terminal domain (NTD)....

Journal: :The Biochemical journal 1997
C Rodriguez-Lafrasse R Rousson S Valla P Antignac P Louisot M T Vanier

The abnormal and variable increase in levels of free sphingoid bases recently described in fibroblasts from Niemann-Pick C patients allowed us to investigate the modulation of protein kinase C in vivo by endogenous sphingosine. The specific binding of [20-3H]phorbol 12, 13-dibutyrate to the regulatory domain of membrane-bound protein kinase C was significantly decreased in fibroblasts from pati...

Journal: :Handbook of clinical neurology 2013
Marie T Vanier

The Niemann-Pick disease group is now divided into two distinct entities: (1) acid sphingomyelinase-deficient Niemann-Pick disease (ASM-deficient NPD) resulting from mutations in the SMPD1 gene and encompassing type A and type B as well as intermediate forms; (2) Niemann-Pick disease type C (NP-C) including also type D, resulting from mutations in either the NPC1 or the NPC2 gene. Both Niemann-...

Journal: :International Journal of Molecular Sciences 2020

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