Article
Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.
International journal of molecular sciences - 23 Nov 2023
Caron-Godon Chenelle A, Della Vecchia Stefania, Romano Alessandro, Doccini Stefano, Dal Canto Flavio, Pasquariello Rosa, Rubegni Anna, Battini Roberta, Santorelli Filippo Maria, Glerum D Moira, Nesti Claudia
Abstract excerpt
Genetic defects in the nuclear encoded subunits and assembly factors of cytochrome c oxidase (mitochondrial complex IV) are very rare and are associated with a wide variety of phenotypes. Biallelic pathogenic variants in the COX11 protein were previously identified in two unrelated children with infantile-onset mitochondrial encephalopathies. Through comprehensive clinical, genetic and functional analyses, here...
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