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DC Field | Value | Language |
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dc.contributor.author | Zhu, Z | - |
dc.contributor.author | Yao, J | - |
dc.contributor.author | Johns, T | - |
dc.contributor.author | Fu, K | - |
dc.contributor.author | De Brie, I | - |
dc.contributor.author | MacMillan, C | - |
dc.contributor.author | Cuthbert, AP | - |
dc.contributor.author | Newbold, RF | - |
dc.contributor.author | Wang, J | - |
dc.contributor.author | Cheverette, M | - |
dc.coverage.spatial | 7 | en |
dc.date.accessioned | 2009-03-20T11:38:26Z | - |
dc.date.available | 2009-03-20T11:38:26Z | - |
dc.date.issued | 1998 | - |
dc.identifier.citation | Nature Genetics . 20 (4) 337-343 | en |
dc.identifier.issn | 1061-4036 | - |
dc.identifier.uri | http://bura.brunel.ac.uk/handle/2438/3130 | - |
dc.description.abstract | Leigh Syndrome (LS) is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency. COX deficiency is an autosomal recessive trait and most patients belong to a single genetic complementation group. DNA sequence analysis of the genes encoding the structural subunits of the COX complex has failed to identify a pathogenic mutation. Using microcell-mediated chromosome transfer, we mapped the gene defect in this disorder to chromosome 9q34 by complementation of the respiratory chain deficiency in patient fibroblasts. Analysis of a candidate gene (SURF1) of unknown function revealed several mutations, all of which predict a truncated protein. These data suggest a role for SURF1 in the biogenesis of the COX complex and define a new class of gene defects causing human neurodegenerative disease. | en |
dc.format.extent | 383230 bytes | - |
dc.format.mimetype | application/txt | - |
dc.language.iso | en | - |
dc.publisher | Nature Publishing Group | - |
dc.subject | Amino Acid Sequence | en |
dc.subject | Cell Line | en |
dc.subject | Chromosome Mapping | en |
dc.subject | Chromosomes, Human, Pair 9 | en |
dc.subject | DNA, Complementary | en |
dc.subject | Electron Transport Complex IV/*biosynthesis | en |
dc.subject | Humans | en |
dc.subject | In Situ Hybridization, Fluorescence | en |
dc.subject | Membrane Proteins | en |
dc.subject | Leigh Disease/*genetics | en |
dc.title | SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome | en |
dc.type | Research Paper | en |
Appears in Collections: | Biological Sciences Dept of Life Sciences Research Papers |
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File | Description | Size | Format | |
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Embargoed Paper.txt | 204 B | Text | View/Open |
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