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1993 1
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2016 5
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Page 1
Nonsyndromic Retinitis Pigmentosa Overview.
Fahim AT, Daiger SP, Weleber RG. Fahim AT, et al. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2000 Aug 4 [updated 2023 Apr 6]. 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: 20301590 Free Books & Documents. Review.
Hypomorphic variant in TRNT1 induces a milder autoinflammatory disease with congenital cataracts and impaired sexual development.
Bravo García-Morato M, Padilla-Merlano B, Matas Pérez E, Valdivieso Shephard JL, Robles Marhuenda Á, Santos Simarro F, López-Granados E, Rodríguez Pena R. Bravo García-Morato M, et al. Rheumatology (Oxford). 2022 May 5;61(5):e114-e116. doi: 10.1093/rheumatology/keab903. Rheumatology (Oxford). 2022. PMID: 34864912 No abstract available.
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.
Lougaris V, Chou J, Baronio M, Gazzurelli L, Lorenzini T, Soresina A, Moratto D, Badolato R, Seleman M, Bellettato M, Geha RS, Plebani A. Lougaris V, et al. Clin Immunol. 2018 Mar;188:20-22. doi: 10.1016/j.clim.2017.11.008. Epub 2017 Nov 21. Clin Immunol. 2018. PMID: 29170023 No abstract available.
Diseases Associated with Defects in tRNA CCA Addition.
Slade A, Kattini R, Campbell C, Holcik M. Slade A, et al. Int J Mol Sci. 2020 May 27;21(11):3780. doi: 10.3390/ijms21113780. Int J Mol Sci. 2020. PMID: 32471101 Free PMC article. Review.
tRNA nucleotidyl transferase 1 (TRNT1) is an essential enzyme catalyzing the addition of terminal cytosine-cytosine-adenosine (CCA) trinucleotides to all mature tRNAs, which is necessary for aminoacylation. ...In addition, even within the same d …
tRNA nucleotidyl transferase 1 (TRNT1) is an essential enzyme catalyzing the addition of terminal cytosin …
Comment on: 'Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors' by Giannelou et al: mutations in TRNT1 result in a constitutive activation of type I interferon signalling.
Frémond ML, Melki I, Kracker S, Bondet V, Duffy D, Rice GI, Crow YJ, Bader-Meunier B. Frémond ML, et al. Ann Rheum Dis. 2019 Aug;78(8):e86. doi: 10.1136/annrheumdis-2018-213745. Epub 2018 Jun 1. Ann Rheum Dis. 2019. PMID: 29858171 No abstract available.
TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins.
Fatica T, Naas T, Liwak U, Slaa H, Souaid M, Frangione B, Kattini R, Gaudreau-Lapierre A, Trinkle-Mulcahy L, Chakraborty P, Holcik M. Fatica T, et al. Genes (Basel). 2023 May 5;14(5):1043. doi: 10.3390/genes14051043. Genes (Basel). 2023. PMID: 37239403 Free PMC article.
We recently discovered that partial loss-of-function mutations in tRNA Nucleotidyl Transferase 1 (TRNT1), the nuclear gene encoding the CCA-adding enzyme essential for modifying both nuclear and mitochondrial tRNAs, causes a multisystemic and cl …
We recently discovered that partial loss-of-function mutations in tRNA Nucleotidyl Transferase 1 (TRNT1), …
Genes for tRNA recycling are upregulated in response to infection with Theiler's mouse encephalitis virus.
Seki M, Komuro A, Ishikawa T, Takahashi M, Nashimoto M. Seki M, et al. Biochem Biophys Res Commun. 2022 Jan 8;587:63-68. doi: 10.1016/j.bbrc.2021.11.091. Epub 2021 Nov 30. Biochem Biophys Res Commun. 2022. PMID: 34864548
Therein tRNase Z(S) removes the 2', 3'>p from the ANKZF1-cleaved tRNA and the subsequent TRNT1 action re-generates the intact tRNA. To know the roles of the tRNA recycling in vivo, we investigated how viral infection affects the tRNA recycling system by analyzing the mR …
Therein tRNase Z(S) removes the 2', 3'>p from the ANKZF1-cleaved tRNA and the subsequent TRNT1 action re-generates the intact tRNA …
50 results