脂滴相关蛋白在遗传性人类疾病中的作用。
The role of lipid droplet associated proteins in inherited human disorders.
机构信息
University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, CB2 0QQ, UK.
出版信息
FEBS Lett. 2024 May;598(10):1205-1206. doi: 10.1002/1873-3468.14779. Epub 2023 Dec 14.
Abstract
Proteins which associate with the surface of lipid droplets are intimately involved in the regulation of the droplets. Several human inherited disorders have now been linked to loss- and, in some cases, likely gain-of-function mutations in the genes encoding these proteins. These are summarised in this Graphical Review.
摘要
与脂滴表面结合的蛋白质密切参与脂滴的调节。几种人类遗传性疾病现在已经与这些蛋白质编码基因的缺失和（在某些情况下）可能的获得性功能突变相关。这些都在这篇综述中进行了总结。
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