ArticleAmerican journal of human genetics1998
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 146 papers.
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Who cites it
146 citing papers in PubMed, 526 citations in OpenAlex.
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- Gene therapy and mRNA drugs approach for mitochondrial OXPHOS deficiencies.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Expanding research and care for Leigh syndrome: efforts of a patient-led advocacy organization.Research involvement and engagement · 2025Article
- Mitigating Chloramphenicol induced liver toxicity by exploring the therapeutic potential of Astaxanthin and Quercetin.Scientific reports · 2025Article
- Improved AAV9-based gene therapy design forMolecular therapy. Methods & clinical development · 2025Article
- Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.American journal of human genetics · 2025Article
- Mechanisms of heme transport in the mitochondria.Biochemical Society transactions · 2025Review
- Article
- Disease models of Leigh syndrome: From yeast to organoids.Journal of inherited metabolic disease · 2024Review
- Characterization of Shy1, the Schizosaccharomyces pombe homolog of human SURF1.Scientific reports · 2024Article
- More than Just Bread and Wine: Using Yeast to Understand Inherited Cytochrome Oxidase Deficiencies in Humans.International journal of molecular sciences · 2024Review
- The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.Frontiers in cell and developmental biology · 2024Article
- COX17 acetylation via MOF-KANSL complex promotes mitochondrial integrity and function.Nature metabolism · 2023Article
- In fission yeast, 65 non-essential mitochondrial proteins related to respiration and stress become essential in low-glucose conditions.Royal Society open science · 2023Article
86 more citing papers are in PubMed but not listed here.
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Authors and funding
18 authors at 8 institutions in 3 countries.
Funding
Abstract
Leigh disease associated with cytochrome c oxidase deficiency (LD[COX-]) is one of the most common disorders of the mitochondrial respiratory chain, in infancy and childhood. No mutations in any of the genes encoding the COX-protein subunits have been identified in LD(COX-) patients. Using complementation assays based on the fusion of LD(COX-) cell lines with several rodent/human rho0 hybrids, we demonstrated that the COX phenotype was rescued by the presence of a normal human chromosome 9. Linkage analysis restricted the disease locus to the subtelomeric region of chromosome 9q, within the 7-cM interval between markers D9S1847 and D9S1826. Candidate genes within this region include SURF-1, the yeast homologue (SHY-1) of which encodes a mitochondrial protein necessary for the maintenance of COX activity and respiration. Sequence analysis of SURF-1 revealed mutations in numerous DNA samples from LD(COX-) patients, indicating that this gene is responsible for the major complementation group in this important mitochondrial disorder.
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