MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics

Charcot–Marie–Tooth disease (CMT) type 2A is a form of peripheral neuropathy, due almost exclusively to dominant mutations in the nuclear gene encoding the mitochondrial protein mitofusin-2 (MFN2). However, there is no understanding of the relationship of clinical phenotype to genotype. MFN2 has two...

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Detalles Bibliográficos
Autores principales: Larrea, Delfina, Pera, Marta, Gonnelli, Adriano, Quintana–Cabrera, Rubén, Akman, H Orhan, Guardia-Laguarta, Cristina, Velasco, Kevin R, Area-Gomez, Estela, Dal Bello, Federica, De Stefani, Diego, Horvath, Rita, Shy, Michael E, Schon, Eric A, Giacomello, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6522073/
https://www.ncbi.nlm.nih.gov/pubmed/30649465
http://dx.doi.org/10.1093/hmg/ddz008

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