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

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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Foilsithe in:EMBO Mol Med
Main Authors: 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
Formáid: Artigo
Teanga:Inglês
Foilsithe: John Wiley and Sons Inc. 2017
Ábhair:
Research Articles
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5494519/
https://ncbi.nlm.nih.gov/pubmed/28554942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201607058
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