Literature DB >> 19465911

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

Daniele Ghezzi1, Paola Goffrini, Graziella Uziel, Rita Horvath, Thomas Klopstock, Hanns Lochmüller, Pio D'Adamo, Paolo Gasparini, Tim M Strom, Holger Prokisch, Federica Invernizzi, Ileana Ferrero, Massimo Zeviani.   

Abstract

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.

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Year:  2009        PMID： 19465911     DOI： 10.1038/ng.378

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  15 in total

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