Associated Papers
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
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Higuchi Y et al.
Brain : a Journal of Neurology, 2018
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