Article
Analysis of Brain, Blood, and Testis Phenotypes Lacking the Vps13a Gene in C57BL/6N Mice.
International journal of molecular sciences - 16 Jul 2024
Pinyomahakul Jitrapa, Ise Masataka, Kawamura Meiko, Yamada Takashi, Okuyama Kentaro, Shibata Shinsuke, Takizawa Jun, Abe Manabu, Sakimura Kenji, Takebayashi Hirohide
Abstract excerpt
The Vps13a gene encodes a lipid transfer protein called VPS13A, or chorein, associated with mitochondria-associated endoplasmic reticulum (ER) membranes (MAMs), mitochondria-endosomes, and lipid droplets. This protein plays a crucial role in inter-organelle communication and lipid transport. Mutations in the VPS13A gene are implicated in the pathogenesis of chorea-acanthocytosis (ChAc), a rare autosomal recessive...
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