Associated Papers
Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.
Garg N et al.
Clinical Genetics, 2025
Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant.
Marin V et al.
Frontiers in Genetics, 2024
Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.
Camponeschi F et al.
Biomolecules, 2022
GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.
Sankaran BP et al.
Orphanet Journal of Rare Diseases, 2021
Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.
Feng WX et al.
Frontiers in Genetics, 2021
Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis.
Maio N et al.
Trends in Biochemical Sciences, 2020
Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.
Wachnowsky C et al.
Metallomics : Integrated Biometal Science, 2018
Nonketotic Hyperglycinemia of Infants in Taiwan.
Chiu CF et al.
Pediatrics and Neonatology, 2016
Functional Analysis of GLRX5 Mutants Reveals Distinct Functionalities of GLRX5 Protein.
Liu G et al.
Journal of Cellular Biochemistry, 2016
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker PR et al.
Brain : a Journal of Neurology, 2014
Iron-Sulfur Protein Assembly in Human Cells.
Saha PP et al.
Reviews of Physiology, Biochemistry and Pharmacology, 0
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