Article
Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila.
PloS one - 1 Jan 2012
Eschenbacher William H, Song Moshi, Chen Yun, Bhandari Poonam, Zhao Peter, Jowdy Casey C, Engelhard John T, Dorn Gerald W
Abstract excerpt
Mitochondrial fusion is essential to organelle homeostasis and organ health. Inexplicably, loss of function mutations of mitofusin 2 (Mfn2) specifically affect neurological tissue, causing Charcot Marie Tooth syndrome (CMT) and atypical optic atrophy. As CMT-linked Mfn2 mutations are predominantly within the GTPase domain, we postulated that Mfn2 mutations in other functional domains might affect non-neurological...
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