Associated Papers
A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease.
Doni D et al.
Cell Death & Disease, 2025
Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2.
Grifagni D et al.
Protein Science : a Publication of the Protein Society, 2024
Clinical, biochemical and molecular characterization of a new case with FDX2-related mitochondrial disorder: Potential biomarkers and treatment options.
Wongkittichote P et al.
Jimd Reports, 2024
Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.
Camponeschi F et al.
Biomolecules, 2022
Rare presentation of FDX2-related disorder and untargeted global metabolomics findings.
Aggarwal A et al.
American Journal of Medical Genetics. Part A, 2022
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
Montealegre S et al.
Neurology. Genetics, 2022
Mammalian mitochondrial iron-sulfur cluster biogenesis and transfer and related human diseases.
Zhang W et al.
Biophysics Reports, 2021
Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis.
Maio N et al.
Trends in Biochemical Sciences, 2020
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Gurgel-Giannetti J et al.
Brain : a Journal of Neurology, 2018
Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.
Wachnowsky C et al.
Metallomics : Integrated Biometal Science, 2018
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.
Spiegel R et al.
European Journal of Human Genetics : Ejhg, 2014
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