Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB

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 subun...

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Vydáno v:Cell Metab
Hlavní autoři: Maio, Nunziata, Ghezzi, Daniele, Verrigni, Daniela, Rizza, Teresa, Bertini, Enrico, Martinelli, Diego, Zeviani, Massimo, Singh, Anamika, Carrozzo, Rosalba, Rouault, Tracey A.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4749439/
https://ncbi.nlm.nih.gov/pubmed/26749241
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cmet.2015.12.005
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