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
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
Sideroblastic anemia associated with multisystem mitochondrial disorders.
Tesarova M et al.
Pediatric Blood & Cancer, 2019
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 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
Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling.
Lopes Costa A et al.
Human Molecular Genetics, 2014
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
Activation of peroxisome proliferator-activated receptor pathway stimulates the mitochondrial respiratory chain and can correct deficiencies in patients' cells lacking its components.
Bastin J et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
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
Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?
Sue CM et al.
Brain Pathology (zurich, Switzerland), 2000
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.
Valnot I et al.
Human Molecular Genetics, 2000
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