Associated Papers
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
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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