Associated Papers
Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review.
Xu J et al.
Molecular Genetics & Genomic Medicine, 2026
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history.
Jiang H et al.
Journal of Human Genetics, 2025
Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.
Camponeschi F et al.
Biomolecules, 2022
A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation.
Lebigot E et al.
Biomedicines, 2021
Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis.
Maio N et al.
Trends in Biochemical Sciences, 2020
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.
Hamanaka K et al.
Journal of Human Genetics, 2018
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.
Ishiyama A et al.
Neurology. Genetics, 2017
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