Associated Papers
Phenotypic assessment of Cox10 variants and their implications for Leigh Syndrome.
Voges TS et al.
Bmc Research Notes, 2024
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
Molecular Genetics Overview of Primary Mitochondrial Myopathies.
Arena IG et al.
Journal of Clinical Medicine, 2022
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Premature Ovarian Failure in French Canadian Leigh Syndrome.
Ghaddhab C et al.
The Journal of Pediatrics, 2017
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.
Pitceathly RD et al.
Jama Neurology, 2013
Oligomerization of heme o synthase in cytochrome oxidase biogenesis is mediated by cytochrome oxidase assembly factor Coa2.
Khalimonchuk O et al.
The Journal of Biological Chemistry, 2012
Defects in the biosynthesis of mitochondrial heme c and heme a in yeast and mammals.
Moraes CT et al.
Biochimica Et Biophysica Acta, 2004
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.
Antonicka H et al.
Human Molecular Genetics, 2003
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