Phospholipid synthetic defect and mitophagy in muscle disease.
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ABSTRACT:
SUBMITTER: Mitsuhashi S
PROVIDER: S-EPMC3288031 | biostudies-literature | 2011 Dec
REPOSITORIES: biostudies-literature
Publications
Phospholipid synthetic defect and mitophagy in muscle disease.
Mitsuhashi Satomi S Nishino Ichizo I
Autophagy 20111201 12
Mitophagy, selective autophagy of mitochondria, has been extensively demonstrated in cultured cell models but has never been described in skeletal muscle in the context of muscle disease. We recently reported the first example of human muscle disease where mitophagy plays a role in the peculiar muscle pathology. This disease is caused by loss-of-function mutations in the CHKB gene encoding choline kinase β. "Patients" and rostrocaudal muscular dystrophy (rmd) mice, spontaneous Chkb mutants, deve ...[more]
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