Associated Papers
Novel missense variants in COX15 cause oocyte degeneration and female infertility.
Yu R et al.
Journal of Assisted Reproduction and Genetics, 2026
Clinical Phenotype and Neuroimaging Findings in Siblings with COX15 Deficiency: Case Report and Review of Previously Reported Cases.
AlFaris HS et al.
Movement Disorders Clinical Practice, 2025
Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.
Almuqbil M et al.
Children (basel, Switzerland), 2025
COX15 deficiency causes oocyte ferroptosis.
Zhang Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Mitochondrial disease and epilepsy in children.
Zhang X et al.
Frontiers in Neurology, 2024
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2020
Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
Halperin D et al.
American Journal of Medical Genetics. Part A, 2020
The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
Crumbaker M et al.
Cancers, 2020
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes.
Swenson S et al.
The Journal of Biological Chemistry, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Andreasen C et al.
European Journal of Human Genetics : Ejhg, 2013
Mitochondrial disorders caused by mutations in respiratory chain assembly factors.
Diaz F et al.
Seminars in Fetal & Neonatal Medicine, 2011
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
Alfadhel M et al.
American Journal of Medical Genetics. Part A, 2011
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.
Bugiani M et al.
Journal of Medical Genetics, 2005
Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.
Oquendo CE et al.
Journal of Medical Genetics, 2004
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.
Antonicka H et al.
American Journal of Human Genetics, 2003