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Ghezzi, D.* ; Goffrini, P.* ; Uziel, G.* ; Horvath, R.* ; Klopstock, T.* ; Lochmüller, H.* ; D'Adamo, P.* ; Gasparini, P.* ; Strom, T.M. ; Prokisch, H. ; Invernizzi, F.* ; Ferrero, I.* ; Zeviani, M.*

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

Nat. Genet. 41, 654-656 (2009)
Open Access Green as soon as Postprint is submitted to ZB.
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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Publication type Article: Journal article
Document type Scientific Article
Keywords flavoprotein gene; mutations; paraganglioma; deficiency; succinate
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 41, Issue: 6, Pages: 654-656 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Reviewing status Peer reviewed