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Article

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

Nature genetics - 1 Jun 2009

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 19465911
DOI: 10.1038/ng.378

Genes

SDHAF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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