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
The first report of a successful birth by preimplantation genetic testing for leukodystrophy induced by IBA57 gene.
Wang J et al.
Taiwanese Journal of Obstetrics & Gynecology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
[Clinical characteristics and genetic analysis of two children with Multiple mitochondrial dysfunction syndrome due to variants of IBA57 gene].
Wu Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
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
Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3.
Xu H et al.
Molecular Genetics & Genomic Medicine, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 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
A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation.
Lebigot E et al.
Biomedicines, 2021
Clinical and molecular characterization of pediatric mitochondrial disorders in south of China.
Hu C et al.
European Journal of Medical Genetics, 2020
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