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Stress signaling and cellular proliferation reverse the effects of mitochondrial mistranslation.
EMBO J. 2019 Dec 16;38(24):e102155. doi: 10.15252/embj.2019102155. Epub 2019 Nov 13.
EMBO J. 2019.
PMID: 31721250
Free PMC article.
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Lake NJ, Formosa LE, Stroud DA, Ryan MT, Calvo SE, Mootha VK, Morar B, Procopis PG, Christodoulou J, Compton AG, Thorburn DR.
Lake NJ, et al.
Hum Mutat. 2019 Jul;40(7):893-898. doi: 10.1002/humu.23753. Epub 2019 Apr 13.
Hum Mutat. 2019.
PMID: 30981218
Free PMC article.
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