Mfn2 agonists reverse mitochondrial defects in preclinical models of Charcot Marie Tooth disease type 2A

Mitofusins (Mfn) promote fusion-mediated mitochondrial content exchange and subcellular trafficking. Mutations in Mfn2 cause neurodegenerative Charcot Marie Tooth disease type 2A (CMT2A). Here we show that Mfn2 activity can be determined by Met376 and His380 interactions with Asp725 and Leu727 and c...

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Vydáno v:Science
Hlavní autoři: Rocha, Agostinho G., Franco, Antonietta, Krezel, Andrzej M., Rumsey, Jeanne M., Alberti, Justin M., Knight, William C., Biris, Nikolaos, Zacharioudakis, Emmanouil, Janetka, James W., Baloh, Robert H., Kitsis, Richard N., Mochly-Rosen, Daria, Townsend, R. Reid, Gavathiotis, Evripidis, Dorn, Gerald W.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6109362/
https://ncbi.nlm.nih.gov/pubmed/29674596
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.aao1785
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