Article
Involvement of casein kinase 1 epsilon/delta (Csnk1e/d) in the pathogenesis of familial Parkinson's disease caused by CHCHD2.
EMBO molecular medicine - 11 Sept 2023
Torii Satoru, Arakawa Satoko, Sato Shigeto, Ishikawa Kei-Ichi, Taniguchi Daisuke, Sakurai Hajime Tajima, Honda Shinya, Hiraoka Yuuichi, Ono Masaya, Akamatsu Wado, Hattori Nobutaka, Shimizu Shigeomi
Abstract excerpt
Parkinson's disease (PD) is a common neurodegenerative disorder that results from the loss of dopaminergic neurons. Mutations in coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) gene cause a familial form of PD with α-Synuclein aggregation, and we here identified the pathogenesis of the T61I mutation, the most common disease-causing mutation of CHCHD2. In Neuro2a cells, CHCHD2 is in mitochondria,...
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