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

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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. Lac...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494519/
https://www.ncbi.nlm.nih.gov/pubmed/28554942
http://dx.doi.org/10.15252/emmm.201607058

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494519/
https://www.ncbi.nlm.nih.gov/pubmed/28554942
http://dx.doi.org/10.15252/emmm.201607058

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