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Article

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

Molecular metabolism - 1 Jul 2018

Wischhof Lena, Gioran Anna, Sonntag-Bensch Dagmar, Piazzesi Antonia, Stork Miriam, Nicotera Pierluigi, Bano Daniele

Abstract excerpt

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-inducing factor (AIF) deletion arginine 201 (R200 in rodents) causes pathology in knockin mice. Within a few months,...

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Source

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Identifiers

PMID: 29780003
DOI: 10.1016/j.molmet.2018.05.002
PMCID: PMC6026322

Genes

AIFM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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