A disease-associated Aifm1 variant induces severe myopathy in knockin mice

OBJECTIVE: Mutations in the AIFM1 gene have been identified in recessive X-linked mitochondrial diseases. Functional and molecular consequences of these pathogenic AIFM1 mutations have been poorly studied in vivo. METHODS/RESULTS: Here we provide evidence that the disease-associated apoptosis-induci...

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Detalles Bibliográficos
Autores principales: Wischhof, Lena, Gioran, Anna, Sonntag-Bensch, Dagmar, Piazzesi, Antonia, Stork, Miriam, Nicotera, Pierluigi, Bano, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026322/
https://www.ncbi.nlm.nih.gov/pubmed/29780003
http://dx.doi.org/10.1016/j.molmet.2018.05.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026322/
https://www.ncbi.nlm.nih.gov/pubmed/29780003
http://dx.doi.org/10.1016/j.molmet.2018.05.002

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