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Article

MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans.

EMBO molecular medicine - 1 Jul 2017

Gal Aniko, Balicza Peter, Weaver David, Naghdi Shamim, Joseph Suresh K, Várnai Péter, Gyuris Tibor, Horváth Attila, Nagy Laszlo, Seifert Erin L, Molnar Maria Judit, Hajnóczky György

Abstract excerpt

The protein MSTO1 has been localized to mitochondria and linked to mitochondrial morphology, but its specific role has remained unclear. We identified a c.22G > A (p.Val8Met) mutation of MSTO1 in patients with minor physical abnormalities, myopathy, ataxia, and neurodevelopmental impairments. Lactate stress test and myopathological results suggest mitochondrial dysfunction. In patient fibroblasts, MSTO1 mRNA and...

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Identifiers

PMID: 28554942
DOI: 10.15252/emmm.201607058
PMCID: PMC5494519

Genes

MSTO1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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