期刊
TRAFFIC
卷 18, 期 11, 页码 711-719出版社
WILEY
DOI: 10.1111/tra.12523
关键词
budding yeast; Chorea-acanthocytosis (ChAc); chorein; Cohen syndrome; Dictyostelium discoideum; model organisms; Saccharomyces cerevisiae; tipC; VPS13 (YLL040C); Vps13 proteins
类别
资金
- National Science Centre, Poland [UMO-2015/19/B/NZ3/01515]
- Ministerio de Ciencia e Innovacion Spain [BFU2015-64440-P]
- Fundacao para a Ciencia e Tecnologia/Ministerio da Educacao e Ciencial/FEDER [LISBOA-01-0145-FEDER-007344, PT2020]
- European Commission, FP7 [FP7613793]
- COST, Action [BM1307]
Human Vps13 proteins are associated with several diseases, including the neurodegenerative disorder Chorea-acanthocytosis (ChAc), yet the biology of these proteins is still poorly understood. Studies in Saccharomyces cerevisiae, Dictyostelium discoideum, Tetrahymena thermophila and Drosophila melanogaster point to the involvement of Vps13 in cytoskeleton organization, vesicular trafficking, autophagy, phagocytosis, endocytosis, proteostasis, sporulation and mitochondrial functioning. Recent findings show that yeast Vps13 binds to phosphatidylinositol lipids via 4 different regions and functions at membrane contact sites, enlarging the list of Vps13 functions. This review describes the great potential of simple eukaryotes to decipher disease mechanisms in higher organisms and highlights novel insights into the pathological role of Vps13 towards ChAc.
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