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Article

Biochemical impact of a disease-causing Ile67Asn substitution on BOLA3 protein.

Metallomics : integrated biometal science - 14 Apr 2021

Sen Sambuddha, Thompson Zechariah, Wachnowsky Christine, Cleary Sean, Harvey Sophie R, Cowan J A

Abstract excerpt

Iron-sulfur (Fe-S) cluster biosynthesis involves the action of a variety of functionally distinct proteins, most of which are evolutionarily conserved. Mutations in these Fe-S scaffold and trafficking proteins can cause diseases such as multiple mitochondrial dysfunctions syndrome (MMDS), sideroblastic anemia, and mitochondrial encephalopathy. Herein, we investigate the effect of Ile67Asn substitution in the...

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Identifiers

PMID: 33693876
DOI: 10.1093/mtomcs/mfab010
PMCID: PMC8046136

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