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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Bibliographic Details
Main Authors: Lena Wischhof, Anna Gioran, Dagmar Sonntag-Bensch, Antonia Piazzesi, Miriam Stork, Pierluigi Nicotera, Daniele Bano
Format: Article
Language:English
Published: Elsevier 2018-07-01
Series:Molecular Metabolism
Online Access:http://www.sciencedirect.com/science/article/pii/S2212877818302485