Altered interplay between endoplasmic reticulum and mitochondria in Charcot–Marie–Tooth type 2A neuropathy

Mutations in the MFN2 gene encoding Mitofusin 2 lead to the development of Charcot–Marie–Tooth type 2A (CMT2A), a dominant axonal form of peripheral neuropathy. Mitofusin 2 is localized at both the outer membrane of mitochondria and the endoplasmic reticulum and is particularly enriched at specializ...

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Udgivet i:Proc Natl Acad Sci U S A
Main Authors: Bernard-Marissal, Nathalie, van Hameren, Gerben, Juneja, Manisha, Pellegrino, Christophe, Louhivuori, Lauri, Bartesaghi, Luca, Rochat, Cylia, El Mansour, Omar, Médard, Jean-Jacques, Croisier, Marie, Maclachlan, Catherine, Poirot, Olivier, Uhlén, Per, Timmerman, Vincent, Tricaud, Nicolas, Schneider, Bernard L., Chrast, Roman
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2019
Fag:
PNAS Plus
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6369737/
https://ncbi.nlm.nih.gov/pubmed/30659145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1810932116
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