Nature genetics, 2009-06, Vol.41 (6), p.654-656
2009
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- Autor(en) / Beteiligte
- Titel
- SDHAF1 , encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
- Ist Teil von
- Nature genetics, 2009-06, Vol.41 (6), p.654-656
- Ort / Verlag
- New York, NY: Nature Publishing Group
- Erscheinungsjahr
- 2009
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- We report mutations in SDHAF1, encoding a new LYR-motif protein, in infantile leukoencephalopathy with defective succinate dehydrogenase (SDH, complex II). Disruption of the yeast homolog or expression of variants corresponding to human mutants caused SDH deficiency and failure of OXPHOS-dependent growth, whereas SDH activity and amount were restored in mutant fibroblasts proportionally with re-expression of the wild-type gene. SDHAF1 is the first bona fide SDH assembly factor reported in any organism.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1061-4036eISSN: 1546-1718DOI: 10.1038/ng.378Titel-ID: cdi_proquest_miscellaneous_20877986
- Format
- –
- Schlagworte
- Biological and medical sciences, Families & family life, Fundamental and applied biological sciences. Psychology, Gene mutations, Genes, Genetic aspects, Genetic Complementation Test, Genetics of eukaryotes. Biological and molecular evolution, Humans, Infant, Iron-Sulfur Proteins - genetics, Leukocytes, Leukoencephalopathies - enzymology, Leukoencephalopathies - genetics, Leukoencephalopathy, Mutation, Physiological aspects, Protein Subunits - genetics, Proteins, Proteins - genetics, Risk factors, Sequence Deletion, Succinate Dehydrogenase - genetics, Succinate dehydrogenase complex, Yeasts - enzymology, Yeasts - genetics