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Article

Understanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3.

International journal of molecular sciences - 21 Jul 2023

Bargagna Beatrice, Banci Lucia, Camponeschi Francesca

Abstract excerpt

Multiple mitochondrial dysfunctions syndrome type 2 with hyperglycinemia (MMDS2) is a severe disorder of mitochondrial energy metabolism, associated with biallelic mutations in the gene encoding for BOLA3, a protein with a not yet completely understood role in iron-sulfur (Fe-S) cluster biogenesis, but essential for the maturation of mitochondrial [4Fe-4S] proteins. To better understand the role of BOLA3 in...

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PMID: 37511493
DOI: 10.3390/ijms241411734
PMCID: PMC10380394

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