VPS13A is closely associated with mitochondria and is required for efficient lysosomal degradation.

Disease Models & Mechanisms(2019)

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摘要
Members of the VPS13 family are associated with various human diseases. In particular, the loss of function of VPS13A leads to chorea-acanthocytosis (ChAc), a rare neurodegenerative disease without available curative treatments. Autophagy has been considered a promising therapeutic target because the absence of VPS13A causes a defective autophagy flux. However, the mechanistic details of this deficiency are unknown. Here, we identified Rab7A as an interactor of one of the VPS13 family members in Dictyostelium discoideum
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关键词
Autophagy,Chorea-acanthocytosis,Chorein,Lysosomes,Membrane contact sites,VPS13A
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