| TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins. | 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., Free PMC Article | 06/2/2023 |
| A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. | A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.
Odom J, Amin H, Gijavanekar C, Elsea SH, Kralik S, Chinen J, Lin Y, Yates AMM, Mizerik E, Potocki L, Scaglia F. | 04/23/2022 |
| Genes for tRNA recycling are upregulated in response to infection with Theiler's mouse encephalitis virus. | 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. | 01/15/2022 |
| Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene. | Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene.
Wang J, Deng Q, He X, Chen D, Hang S, Gao Y, Chen Y. | 09/11/2021 |
| The expression of mitochondrial non-coding RNAs regulated by TRNT1 has been described. | Exploration of CCA-added RNAs revealed the expression of mitochondrial non-coding RNAs regulated by CCA-adding enzyme.
Pawar K, Shigematsu M, Loher P, Honda S, Rigoutsos I, Kirino Y., Free PMC Article | 05/2/2020 |
| In vitro analysis revealed that the I326T substitution decreases the thermal stability of TRNT1 and causes a ten-fold reduction in enzyme activity. These data suggest that the structural changes in the I326T variant result from a rearrangement of helices within the body domain of the protein which can be probed by the inability of the monomeric enzyme to form a covalent dimer in vitro. | Analysis of the pathogenic I326T variant of human tRNA nucleotidyltransferase reveals reduced catalytic activity and thermal stability in vitro linked to a conformational change.
Leibovitch M, Reid NE, Victoria J, Hanic-Joyce PJ, Joyce PBM. | 10/26/2019 |
| Peripheral B-cell deficiency of TRNT1 deficiency may be associated with augmented ER stress in immature B cells in the bone marrow. | Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.
Kumaki E, Tanaka K, Imai K, Aoki-Nogami Y, Ishiguro A, Okada S, Kanegane H, Ishikawa F, Morio T. | 04/20/2019 |
| We studied nine patients with biallelic mutations in TRNT1 and the syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay. Mutations of TRNT1 lead to a severe and often fatal syndrome, linking protein homeostasis and autoinflammation. | Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.
Giannelou A, Wang H, Zhou Q, Park YH, Abu-Asab MS, Ylaya K, Stone DL, Sediva A, Sleiman R, Sramkova L, Bhatla D, Serti E, Tsai WL, Yang D, Bishop K, Carrington B, Pei W, Deuitch N, Brooks S, Edwan JH, Joshi S, Prader S, Kaiser D, Owen WC, Sonbul AA, Zhang Y, Niemela JE, Burgess SM, Boehm M, Rehermann B, Chae J, Quezado MM, Ombrello AK, Buckley RH, Grom AA, Remmers EF, Pachlopnik JM, Su HC, Gutierrez-Cruz G, Hewitt SM, Sood R, Risma K, Calvo KR, Rosenzweig SD, Gadina M, Hafner M, Sun HW, Kastner DL, Aksentijevich I., Free PMC Article | 01/26/2019 |
| In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity. | In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity.
Leibovitch M, Hanic-Joyce PJ, Joyce PBM. | 06/16/2018 |
| patient-specific induced pluripotent stem cells (iPSCs) and iPSC-derived retinal organoids from dermal fibroblasts of patients with molecularly confirmed TRNT1-associated retinitis pigmentosa. | Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1-associated Retinitis pigmentosa.
Sharma TP, Wiley LA, Whitmore SS, Anfinson KR, Cranston CM, Oppedal DJ, Daggett HT, Mullins RF, Tucker BA, Stone EM. | 03/10/2018 |
| Data show that the disease causing mutations in patient-derived fibroblasts do not affect subcellular localization of TRNT1 and show no gross morphological differences when compared to control cells. | Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts.
Liwak-Muir U, Mamady H, Naas T, Wylie Q, McBride S, Lines M, Michaud J, Baird SD, Chakraborty PK, Holcik M., Free PMC Article | 11/11/2017 |
| family expands the ocular and systemic phenotypes associated with mutations in TRNT1, demonstrating phenotypic variability and highlighting the need for ophthalmic review of these patients. | Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.
Hull S, Malik AN, Arno G, Mackay DS, Plagnol V, Michaelides M, Mansour S, Albanese A, Brown KT, Holder GE, Webster AR, Heath PT, Moore AT. | 05/27/2017 |
| two non-syndromic retinitis pigmentosa pedigrees with segregating mutations in TRNT1 | Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
DeLuca AP, Whitmore SS, Barnes J, Sharma TP, Westfall TA, Scott CA, Weed MC, Wiley JS, Wiley LA, Johnston RM, Schnieders MJ, Lentz SR, Tucker BA, Mullins RF, Scheetz TE, Stone EM, Slusarski DC., Free PMC Article | 09/24/2016 |
| The clinical phenotypes associated with TRNT1 mutations are largely due to impaired mitochondrial translation, resulting from defective CCA addition to mitochondrial tRNA(Ser(AGY)). | The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J, Ellazam B, Webb N, Antonicka H, Janer A, Brunel-Guitton C, Elpeleg O, Mitchell G, Shoubridge EA., Free PMC Article | 01/30/2016 |
| A model of action is proposed, where motif C forms a flexible spring element modulating the relative orientation of the enzyme's head and body domains to accommodate the growing 3'-end of the tRNA. | Domain movements during CCA-addition: a new function for motif C in the catalytic core of the human tRNA nucleotidyltransferases.
Ernst FG, Rickert C, Bluschke A, Betat H, Steinhoff HJ, Mörl M., Free PMC Article | 01/16/2016 |
| The discriminator base represents an important substrate recognition element for tRNA nucleotidyltransferases. | The identity of the discriminator base has an impact on CCA addition.
Wende S, Bonin S, Götze O, Betat H, Mörl M., Free PMC Article | 09/26/2015 |
| Tandem CCA addition is not the result of a modified enzymatic activity that is particular to unstable RNAs. Rather, it is a consequence of the natural activity of the CCA-adding enzyme on a substrate with increased conformational flexibility, the CCA-adding enzyme is able to trigger the degradation of potentially detrimental small RNAs and tRNAs. | On-enzyme refolding permits small RNA and tRNA surveillance by the CCA-adding enzyme.
Kuhn CD, Wilusz JE, Zheng Y, Beal PA, Joshua-Tor L., Free PMC Article | 04/11/2015 |
| The patient-associated TRNT1 mutations result in partial loss of function of TRNT1 and lead to metabolic defects in both the mitochondria and cytosol, which can account for the phenotypic pleiotropy. | Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD., Free PMC Article | 02/28/2015 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article | 12/5/2010 |
| is a RNA polymerase which newly adds CCA sequence to tRNA 3'terminal. This reaction was named as Vice-Anchored Knock-in and Lock Dynamics.[review] | [Dynamic mechanism of CCA-adding polymerization reaction].
Nureki O. | 01/21/2010 |
| The crystal structure reveals a four domain architecture with a cluster of conserved residues forming a positively charged cleft between the first two domains. | Crystal structure of the human CCA-adding enzyme: insights into template-independent polymerization.
Augustin MA, Reichert AS, Betat H, Huber R, Mörl M, Steegborn C. | 01/21/2010 |
| These findings strongly suggest that the splice variant of the human CCA-adding enzyme is expressed in the cell although the in vivo function remains unclear. | A splice variant of the human CCA-adding enzyme with modified activity.
Lizano E, Schuster J, Müller M, Kelso J, Mörl M. | 01/21/2010 |
| human gene transcript CGI-47 (#AF151805) was cloned and encodes a bona fide CCA-adding enzyme and not a poly(A) polymerase. | A eubacterial origin for the human tRNA nucleotidyltransferase?
Reichert AS, Thurlow DL, Mörl M. | 01/21/2010 |