Article

Pathogenesis of mtDNA point mutation m.10191T>C affecting complex I function is a multifactorial process leading to metabolic remodeling of mitochondria

2024-12-01

Abstract excerpt

Inherited mitochondrial disorders are of multiple genetic origins and may lead to a broad range of frequently severe disease phenotypes. Yet, the correlation between molecular causes and clinical presentations is poorly understood. To address this conundrum, we thoroughly investigated the consequences of the well-known pathogenic mitochondrial DNA mutation m.10191T>C. The mutation changes serine-45 in subunit ND3...

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Literature Corpus work: 846212d4-7e1e-5b71-9499-7393b0308bfa
DOI: 10.1101/2024.12.01.626247

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