Associated Papers
Mutations in GTPBP3 cause aberrant mitochondrial respiration associated with combined oxidative phosphorylation deficiency 23.
Li Q et al.
Genes & Diseases, 2025
39397867 (PubMed )
Supplement: mmc1.docx
Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.
Xie Y et al.
Orphanet Journal of Rare Diseases, 2024
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
Nardecchia F et al.
Annals of Clinical and Translational Neurology, 2024
Novel insights on GTPBP3-associated hypertrophic cardiomyopathy.
Angelova P et al.
American Journal of Medical Genetics. Part A, 2023
Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review.
Zhang Q et al.
Genes, 2023
Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China.
Yan HM et al.
Frontiers in Genetics, 2021
Invited review: MnmE, a GTPase that drives a complex tRNA modification reaction.
Fislage M et al.
Biopolymers, 2016
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
Kopajtich R et al.
American Journal of Human Genetics, 2014
Select a paper to view details