The Charcot–Marie Tooth Disease Mutation R94Q in MFN2 Decreases ATP Production but Increases Mitochondrial Respiration under Conditions of Mild Oxidative Stress

Charcot–Marie tooth disease is a hereditary polyneuropathy caused by mutations in Mitofusin-2 (MFN2), a GTPase in the outer mitochondrial membrane involved in the regulation of mitochondrial fusion and bioenergetics. Autosomal-dominant inheritance of a R94Q mutation in MFN2 causes the axonal subtype...

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Detalles Bibliográficos
Autores principales: Wolf, Christina, Zimmermann, Rahel, Thaher, Osamah, Bueno, Diones, Wüllner, Verena, Schäfer, Michael K.E., Albrecht, Philipp, Methner, Axel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6830076/
https://www.ncbi.nlm.nih.gov/pubmed/31640251
http://dx.doi.org/10.3390/cells8101289

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6830076/
https://www.ncbi.nlm.nih.gov/pubmed/31640251
http://dx.doi.org/10.3390/cells8101289

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