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Article

Defects in the Maturation of Mitochondrial Iron-Sulfur Proteins: Biophysical Investigation of the MMDS3 Causing Gly104Cys Variant of IBA57.

International journal of molecular sciences - 28 Sept 2024

Bargagna Beatrice, Staderini Tommaso, Lang Steven H, Banci Lucia, Camponeschi Francesca

Abstract excerpt

Multiple mitochondrial dysfunctions syndrome type 3 (MMDS3) is a rare autosomal recessive mitochondrial leukoencephalopathy caused by biallelic pathogenic variants in the IBA57 gene. The gene protein product, IBA57, has an unknown role in iron-sulfur (Fe-S) cluster biogenesis but is required for the maturation of mitochondrial [4Fe-4S] proteins. To better understand the role of IBA57 in MMDS3, we have...

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Identifiers

PMID: 39408793
DOI: 10.3390/ijms251910466
PMCID: PMC11476781

Genes

IBA57
ISCA2

Variants

Provenance

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