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Amino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate

The rare human disorder chorea-acanthocytosis (ChAc) is caused by mutations in hVPS13A gene. The hVps13A protein interacts with actin and regulates the level of phosphatidylinositol 4-phosphate (PI4P) in the membranes of neuronal cells. Yeast Vps13 is involved in vacuolar protein transport and, like...

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Detalles Bibliográficos
Autores principales: Rzepnikowska, Weronika, Flis, Krzysztof, Kaminska, Joanna, Grynberg, Marcin, Urbanek, Agnieszka, Ayscough, Kathryn R., Zoladek, Teresa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393151/
https://www.ncbi.nlm.nih.gov/pubmed/28334785
http://dx.doi.org/10.1093/hmg/ddx054