Article

A computational study to assess the pathogenicity of single or combinations of missense variants on respiratory Complex I

2023-12-13

Abstract excerpt

Variants found in the respiratory complex I (CI) subunit genes encoded by mitochondrial DNA can cause severe genetic diseases. However, it is difficult to establish a priori whether a single or a combination of CI variants may impact oxidative phosphorylation. Here we propose a computational approach based on coarse-grained molecular dynamics simulations. One of the primary CI variants (m.14484T>C/ MT-ND6 ) asso...

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Literature Corpus work: 03511e93-c06f-5072-8985-929f05878769
DOI: 10.1101/2023.12.11.571090

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