ePrints

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

Lookup NU author(s): Professor Rita HorvathORCiD, Professor Hanns Lochmuller

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.

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.

Publication metadata

Author(s): Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmuller H, D'Adamo P, Gasparini P, Strom TM, Prokisch H, Invernizzi F, Ferrero I, Zeviani M

Publication type: Article

Publication status: Published

Journal: Nature Genetics

Year: 2009

Volume: 41

Issue: 6

Pages: 654-656

ISSN (print): 1061-4036

ISSN (electronic): 1546-1718

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/ng.378

DOI: 10.1038/ng.378

Altmetrics

Funding

Share