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
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
[A case with cytochrome C oxidase deficiency caused by COX10 gene variation].
Sun Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Sideroblastic anemia associated with multisystem mitochondrial disorders.
Tesarova M et al.
Pediatric Blood & Cancer, 2019
Mitochondrial stress response triggered by defects in protein synthesis quality control.
Richter U et al.
Life Science Alliance, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E et al.
Journal of Translational Medicine, 2016
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
Mitochondrial disorders caused by mutations in respiratory chain assembly factors.
Diaz F et al.
Seminars in Fetal & Neonatal Medicine, 2011
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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