Ontology highlight
ABSTRACT:
SUBMITTER: Mitsuhashi S
PROVIDER: S-EPMC3168292 | biostudies-literature | 2011 Oct
REPOSITORIES: biostudies-literature
Mitsuhashi Satomi S Hatakeyama Hideyuki H Karahashi Minako M Koumura Tomoko T Nonaka Ikuya I Hayashi Yukiko K YK Noguchi Satoru S Sher Roger B RB Nakagawa Yasuhito Y Manfredi Giovanni G Goto Yu-ichi Y Cox Gregory A GA Nishino Ichizo I
Human molecular genetics 20110712 19
Choline kinase is the first step enzyme for phosphatidylcholine (PC) de novo biosynthesis. Loss of choline kinase activity in muscle causes rostrocaudal muscular dystrophy (rmd) in mouse and congenital muscular dystrophy in human, characterized by distinct mitochondrial morphological abnormalities. We performed biochemical and pathological analyses on skeletal muscle mitochondria from rmd mice. No mitochondria were found in the center of muscle fibers, while those located at the periphery of the ...[more]