DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

Mitochondrial fission and fusion are dynamic processes vital to mitochondrial quality control and the maintenance of cellular respiration. In dividing mitochondria, membrane scission is accomplished by a dynamin-related GTPase, DNM1L, that oligomerizes at the site of fission and constricts in a GTP-...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Vanstone, Jason R, Smith, Amanda M, McBride, Skye, Naas, Turaya, Holcik, Martin, Antoun, Ghadi, Harper, Mary-Ellen, Michaud, Jean, Sell, Erick, Chakraborty, Pranesh, Tetreault, Martine, Majewski, Jacek, Baird, Stephen, Boycott, Kym M, Dyment, David A, MacKenzie, Alex, Lines, Matthew A
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5070894/
https://ncbi.nlm.nih.gov/pubmed/26604000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.243
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