Article
A mouse model of MEPAN demonstrates a role for mitochondrial fatty acid synthesis in iron-sulfur cluster and supercomplex formation.
Proceedings of the National Academy of Sciences of the United States of America - 7 Oct 2025
Murdock Deborah G, Janssen Kevin A, Keller Kierstin, Mitchell Katherine L, Beauplan Maina, O'Brien William T, D'Alessandro Lia, Haltom Jeffrey A, Wallace Douglas C
Abstract excerpt
MEPAN (Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration) is an early-onset movement disorder characterized by ataxia, dysarthria, and optic atrophy. Here, we report the creation of a mouse model of MEPAN with patient-similar compound heterozygous mutations in the Mecr gene. The MEPAN mouse recapitulates the major hallmarks of MEPAN, including a movement disorder, optic neuropathy, defects in...
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