Associated Papers
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Top_priority
Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.
Higuchi Y et al.
Journal of Neurology, 2024
Mitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which acts in the early stages of complex IV assembly.
Formosa LE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient.
Ban R et al.
Frontiers in Genetics, 2021
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.
Mohanraj K et al.
Embo Molecular Medicine, 2019
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Higuchi Y et al.
Brain : a Journal of Neurology, 2018
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.
Martinez Lyons A et al.
Journal of Medical Genetics, 2016
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