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

• Autores principales: Lena Wischhof (Autor), Anna Gioran (Autor), Dagmar Sonntag-Bensch (Autor), Antonia Piazzesi (Autor), Miriam Stork (Autor), Pierluigi Nicotera (Autor), Daniele Bano (Autor)
• Formato: Libro
• Publicado: Elsevier, 2018-07-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

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...