Two Rare Human Mitofusin 2 Mutations Alter Mitochondrial Dynamics and Induce Retinal and Cardiac Pathology in Drosophila

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 w...

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Dades bibliogràfiques
Autors principals: Eschenbacher, William H., Song, Moshi, Chen, Yun, Bhandari, Poonam, Zhao, Peter, Jowdy, Casey C., Engelhard, John T., Dorn, Gerald W.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2012
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3434137/
https://ncbi.nlm.nih.gov/pubmed/22957060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0044296
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