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
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG74
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
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
A novel IBA57 variant is associated with mitochondrial iron-sulfur protein deficiency and necrotizing myelopathy in dogs.
Mandigers PJJ et al.
Frontiers in Genetics, 2023
Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.
Camponeschi F et al.
Biomolecules, 2022
Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome.
Zhan F et al.
Metabolic Brain Disease, 2022
Molecular autopsy by proxy in preconception counseling.
Ali Alghamdi M et al.
Clinical Genetics, 2021
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
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
Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.
Liu M et al.
Clinical Genetics, 2018
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
Lebigot E et al.
Molecular Genetics and Metabolism, 2017
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
Torraco A et al.
Journal of Neurology, 2017
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