Article

Characterization of a COQ8A-ataxia mouse model with E548K single-site mutation: distinct and comparable findings relative to a loss-of-function mutation

2025-04-23

Abstract excerpt

COQ8A-ataxia, also known as autosomal recessive cerebellar ataxia type 2 (ARCA2), is a rare mitochondrial disorder caused by biallelic mutations in COQ8A , a gene encoding for a mitochondrial protein critical for coenzyme Q (CoQ) biosynthesis. Although there is no clear genotype-phenotype correlation in patients, loss-of function variants generally produce a cerebellar-restricted phenotype, while missense mutatio...

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Literature Corpus work: 8a006d6a-38f7-5acb-bff8-3e5eb511c106
DOI: 10.1101/2025.04.23.650169

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