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The role of lipid droplet associated proteins in inherited human disorders.

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.

SUBMITTER: Duan X 

PROVIDER: S-EPMC7617339 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature

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The role of lipid droplet associated proteins in inherited human disorders.

Duan Xiaowen X   Savage David B DB  

FEBS letters 20231214 10

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. ...[more]

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