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
A novel mutation in GTPBP3 causes combined oxidative phosphorylation deficiency 23 by affecting pre-mRNA splicing.
Wang Y et al.
Heliyon, 2024
38515655 (PubMed )
Supplement: mmc2.xlsx › Sheet2
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
The human tRNA taurine modification enzyme GTPBP3 is an active GTPase linked to mitochondrial diseases.
Peng GX et al.
Nucleic Acids Research, 2021
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
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2020
31967322 (PubMed )
Supplement: JIMD-43-819-s004.xlsx › Sheet1
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2017
Invited review: MnmE, a GTPase that drives a complex tRNA modification reaction.
Fislage M et al.
Biopolymers, 2016
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 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
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