The role of lipid droplet associated proteins in inherited human disorders

脂滴相关蛋白在人类遗传疾病中的作用

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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.

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