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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Detalles Bibliográficos
Autores principales: Eschenbacher, William H., Song, Moshi, Chen, Yun, Bhandari, Poonam, Zhao, Peter, Jowdy, Casey C., Engelhard, John T., Dorn, Gerald W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3434137/
https://www.ncbi.nlm.nih.gov/pubmed/22957060
http://dx.doi.org/10.1371/journal.pone.0044296

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