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Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis

Pathogenic variants that disrupt human mitochondrial protein synthesis are associated with a clinically heterogeneous group of diseases. Despite an impairment in oxidative phosphorylation being a common phenotype, the underlying molecular pathogenesis is more complex than simply a bioenergetic defic...

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Detalles Bibliográficos
Autores principales: Ng, Kah Ying, Richter, Uwe, Jackson, Christopher B, Seneca, Sara, Battersby, Brendan J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9029222/
https://www.ncbi.nlm.nih.gov/pubmed/34718584
http://dx.doi.org/10.1093/hmg/ddab314