Niemann-Pick type-C disease: deficient intracellular transport of exogenously derived cholesterol.
Niemann-Pick type-C disease: deficient intracellular transport of exogenously derived cholesterol.
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Niemann-Pick C 型疾病：外源性胆固醇的细胞内转运缺陷。
DOI：
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发表时间：
1992
期刊：
影响因子：
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通讯作者：
Peter G. Pentchev
中科院分区：
文献类型：
--
作者：
C. Roff;E. Goldin;Marcella Comly;J. Blanchette;A. Cooney;R. O. Brady;Peter G. Pentchev
NPC disease is an autosomal recessive neurovisceral storage disorder. A pleiotropic array of secondary enzymatic and storage abnormalities has in the past obscured a cohesive understanding of the underlying metabolic basis of this disorder. Recent findings, reviewed in this report, demonstrate that NPC disease is a cholesterol lipidosis resulting from defective intracellular cholesterol transport. The sequence of cellular events characteristic of NPC is 1) deficient intracellular transport of exogenously derived cholesterol resulting in retarded induction of cellular cholesterol homeostatic regulation; 2) accumulation of cholesterol in lysosomes; and 3) secondary cellular effects. Retarded esterification of exogenous cholesterol and accumulation of unesterified cholesterol in lysosomes is tightly coupled to the primary defect and serves as the basis for biochemical diagnosis of NPC.
影响因子：
56.9
作者：
BROWN, MS;GOLDSTEIN, JL
通讯作者：
GOLDSTEIN, JL
影响因子：
3.9
作者：
CHEN, JW;PAN, W;AUGUST, JT
通讯作者：
AUGUST, JT