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Article

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.

Cell metabolism - 9 Feb 2016

Maio Nunziata, Ghezzi Daniele, Verrigni Daniela, Rizza Teresa, Bertini Enrico, Martinelli Diego, Zeviani Massimo, Singh Anamika, Carrozzo Rosalba, Rouault Tracey A

Abstract excerpt

SDHAF1 mutations cause a rare mitochondrial complex II (CII) deficiency, which manifests as infantile leukoencephalopathy with elevated levels of serum and white matter succinate and lactate. Here, we demonstrate that SDHAF1 contributes to iron-sulfur (Fe-S) cluster incorporation into the Fe-S subunit of CII, SDHB. SDHAF1 transiently binds to aromatic peptides of SDHB through an arginine-rich region in its C...

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Source

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Identifiers

PMID: 26749241
DOI: 10.1016/j.cmet.2015.12.005
PMCID: PMC4749439

Genes

SDHB
SDHAF1
HSPA9
ISCU
LONP1
SDHA

Provenance

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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Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.PMID 26749241Read ↗

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