A disease-associated Aifm1 variant induces severe myopathy in knockin mice
Abstract
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. 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, posttranslational loss of the mutant AIF protein induces severe...
Paper Details
Title
A disease-associated Aifm1 variant induces severe myopathy in knockin mice
Published Date
Jul 1, 2018
Journal
Volume
13
Pages
10 - 23
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