Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.
Oquendo
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CE
Antonicka
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Shoubridge
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EA
Reardon
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Brown
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GK
D002478:Cells, Cultured; D030401:Cytochrome-c Oxidase Deficiency / Q000150:complications / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005347:Fibroblasts / Q000201:enzymology / Q000473:pathology / Q000821:virology; D005816:Genetic Complementation Test / Q000379:methods; D005822:Genetic Vectors / Q000235:genetics; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000209:etiology* / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000502:physiology*; D009154:Mutation / Q000235:genetics*; D012190:Retroviridae / Q000235:genetics; D029701:Saccharomyces cerevisiae Proteins / Q000235:genetics* / Q000502:physiology*; D012689:Sequence Homology, Nucleic Acid; D012867:Skin / Q000473:pathology; D014162:Transfection / Q000379:methods
C107633:COX15 protein, S cerevisiae; D008565:Membrane Proteins; D029701:Saccharomyces cerevisiae Proteins