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Novel insights on GTPBP3-associated hypertrophic cardiomyopathy.
Angelova P, Velchev V, Stoyanov N, Atemin S, Todorov T, Tourtourikov I, Mitev V, Todorova A. Angelova P, et al. Am J Med Genet A. 2023 Jul;191(7):1804-1813. doi: 10.1002/ajmg.a.63205. Epub 2023 Apr 7. Am J Med Genet A. 2023. PMID: 37029485
Whole-exome sequencing revealed the following four variants in the patient: c.181G>C (p.Ala61Pro) and c.1199C>T (p.Thr400Met) in the GTPBP3 gene, as well as c.752C>T (p.Thr251Ile) and c.1760C>T (p.Pro587Leu) in the POLG gene. Family segregation analysis showed …
Whole-exome sequencing revealed the following four variants in the patient: c.181G>C (p.Ala61Pro) and c.1199C>T (p.Thr400Met) in the …
Endothelial GTPBP3 directs developmental angiogenesis and neovascularization after limb ischemia via the mtROS/HRl/ATF4/mTORC1 axis.
Qin D, Hu J, Yang Y, Li X, He J, Chen J, Guo X, Wei C, Wang F, Yi T, Li C, Yu B. Qin D, et al. Angiogenesis. 2025 Jun 18;28(3):36. doi: 10.1007/s10456-025-09994-4. Angiogenesis. 2025. PMID: 40533669
In this study, we assess the physiological functions of GTPBP3 in endothelial cells (ECs) using two conditional knockout mouse models. GTPBP3 deletion, specifically in ECs, resulted in embryonic lethality owing to irregularities in angiogenesis and vascular formatio …
In this study, we assess the physiological functions of GTPBP3 in endothelial cells (ECs) using two conditional knockout mouse models …
Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review.
Zhang Q, Ouyang Q, Xiang J, Li H, Lv H, An Y. Zhang Q, et al. Genes (Basel). 2023 Feb 22;14(3):552. doi: 10.3390/genes14030552. Genes (Basel). 2023. PMID: 36980825 Free PMC article.
Defect of GTPBP3, the human mitochondrial tRNA-modifying enzyme, can lead to Combined Oxidative Phosphorylation Deficiency 23 (COXPD23). ...Compared with the variants in gnomAD, the proportion of LOFVs in GTPBP3 was higher in COXPD23 patients (48.6% versus 8.9%, p & …
Defect of GTPBP3, the human mitochondrial tRNA-modifying enzyme, can lead to Combined Oxidative Phosphorylation Deficiency 23 (COXPD2 …
Deletion of Gtpbp3 in zebrafish revealed the hypertrophic cardiomyopathy manifested by aberrant mitochondrial tRNA metabolism.
Chen D, Zhang Z, Chen C, Yao S, Yang Q, Li F, He X, Ai C, Wang M, Guan MX. Chen D, et al. Nucleic Acids Res. 2019 Jun 4;47(10):5341-5355. doi: 10.1093/nar/gkz218. Nucleic Acids Res. 2019. PMID: 30916346 Free PMC article.
Using the gtpbp3 knockout zebrafish generated by CRISPR/Cas9 system, we demonstrated the aberrant mitochondrial tRNA metabolism in gtpbp3 knock-out zebrafish. ...These cardiac defects in the gtpbp3 knock-out zebrafish recapitulated the clinical phenotypes in …
Using the gtpbp3 knockout zebrafish generated by CRISPR/Cas9 system, we demonstrated the aberrant mitochondrial tRNA metabolism in …
Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview.
Rahman S, Thorburn DR, Ball M. Rahman S, et al. 2015 Oct 1 [updated 2025 May 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2015 Oct 1 [updated 2025 May 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 26425749 Free Books & Documents. Review.
Taurine hypomodification underlies mitochondrial tRNATrp-related genetic diseases.
Lu JL, Dai Y, Ji K, Peng GX, Li H, Yan C, Shen B, Zhou XL. Lu JL, et al. Nucleic Acids Res. 2024 Nov 27;52(21):13351-13367. doi: 10.1093/nar/gkae854. Nucleic Acids Res. 2024. PMID: 39380483 Free PMC article.
Both cmnm5U and equivalent 5-taurinomethyluridine (taum5U, catalyzed by homologous GTPBP3 and MTO1) are found at U34 in several human mitochondrial tRNAs (hmtRNAs). Certain mitochondrial DNA (mtDNA) mutations, including m.3243A > G in tRNALeu(UUR) and m.8344A > G in …
Both cmnm5U and equivalent 5-taurinomethyluridine (taum5U, catalyzed by homologous GTPBP3 and MTO1) are found at U34 in several human …
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
Nardecchia F, Carrozzo R, Innocenti A, Torraco A, Zaccaria V, Rizza T, Pisani F, Bertini E, Leuzzi V. Nardecchia F, et al. Ann Clin Transl Neurol. 2024 Mar;11(3):819-825. doi: 10.1002/acn3.51980. Epub 2024 Feb 7. Ann Clin Transl Neurol. 2024. PMID: 38327089 Free PMC article.
INTRODUCTION: COXPD23 is a rare mitochondrial disease caused by biallelic pathogenic variants in GTPBP3. We report on two siblings with a mild phenotype. CASE REPORTS: The young boy presented with global developmental delay, ataxic gait and upper limbs tremor, and the olde …
INTRODUCTION: COXPD23 is a rare mitochondrial disease caused by biallelic pathogenic variants in GTPBP3. We report on two siblings wi …
Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China.
Yan HM, Liu ZM, Cao B, Zhang VW, He YD, Jia ZJ, Xi H, Liu J, Fang F, Wang H. Yan HM, et al. Front Genet. 2021 Jul 1;12:611226. doi: 10.3389/fgene.2021.611226. eCollection 2021. Front Genet. 2021. PMID: 34276756 Free PMC article.
Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far. Here, we report a case series of three patients with COX …
Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and th …
Characterization of human GTPBP3, a GTP-binding protein involved in mitochondrial tRNA modification.
Villarroya M, Prado S, Esteve JM, Soriano MA, Aguado C, Pérez-Martínez D, Martínez-Ferrandis JI, Yim L, Victor VM, Cebolla E, Montaner A, Knecht E, Armengod ME. Villarroya M, et al. Mol Cell Biol. 2008 Dec;28(24):7514-31. doi: 10.1128/MCB.00946-08. Epub 2008 Oct 13. Mol Cell Biol. 2008. PMID: 18852288 Free PMC article.
Human GTPBP3 is an evolutionarily conserved, multidomain protein involved in mitochondrial tRNA modification. ...This suggests that regulation of the GTPase activity, essential for the tRNA modification function of MnmE, is different in GTPBP3. In fact, potassium-in …
Human GTPBP3 is an evolutionarily conserved, multidomain protein involved in mitochondrial tRNA modification. ...This suggests that r …
43 results