| TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels. | TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels.
Muylle E, Jiang H, Johnsen C, Byeon SK, Ranatunga W, Garapati K, Zenka RM, Preston G, Pandey A, Kozicz T, Fang F, Morava E., Free PMC Article | 11/19/2022 |
| TRIT1 deficiency: Two novel patients with four novel variants. | TRIT1 deficiency: Two novel patients with four novel variants.
Smol T, Brunelle P, Caumes R, Boute-Benejean O, Thuillier C, Figeac M, Ait-Yahya E, Bonte F, Mau-Them FT, Thauvin-Robinet C, Faivre L, Roche-Lestienne C, Manouvrier-Hanu S, Petit F, Ghoumid J. | 10/22/2022 |
| The Effect of tRNA([Ser]Sec) Isopentenylation on Selenoprotein Expression. | The Effect of tRNA([Ser]Sec) Isopentenylation on Selenoprotein Expression.
Fradejas-Villar N, Bohleber S, Zhao W, Reuter U, Kotter A, Helm M, Knoll R, McFarland R, Taylor RW, Mo Y, Miyauchi K, Sakaguchi Y, Suzuki T, Schweizer U., Free PMC Article | 01/15/2022 |
| Targeting mitochondrial and cytosolic substrates of TRIT1 isopentenyltransferase: Specificity determinants and tRNA-i6A37 profiles | Targeting mitochondrial and cytosolic substrates of TRIT1 isopentenyltransferase: Specificity determinants and tRNA-i6A37 profiles.
Khalique A, Mattijssen S, Haddad AF, Chaudhry S, Maraia RJ., Free PMC Article | 07/25/2020 |
| We show that dysfunctional TRIT1 results in decreased levels of select mitochondrial proteins. Our findings confirm the TRIT1 disease association and advance the phenotypic and molecular understanding of this disorder. | Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, Myers T, Proud V, Vergano S, Spangler B, Farrow E, Kussman J, Safina N, Care4Rare Consortium, Saunders C, Boycott KM, Thiffault I. | 07/1/2017 |
| characterize TRIT1 as a novel human amyloid fiber forming protein. We discuss these data in light of TRIT1's functional roles and possible implications for disease | The human tRNA-modifying protein, TRIT1, forms amyloid fibers in vitro.
Waller TJ, Read DF, Engelke DR, Smaldino PJ. | 05/6/2017 |
| patient cells bearing the p.Arg323Gln TRIT1 mutation are severely deficient in i6A37 in both cytosolic and mitochondrial tRNAs | Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.
Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW., Free PMC Article | 06/27/2015 |
| In light of this additional nuclear role for Mod5 we discuss the proposed role of the human homologue of Mod5, TRIT1, as a tumor suppressor protein.[review] | The cytoplasmic and nuclear populations of the eukaryote tRNA-isopentenyl transferase have distinct functions with implications in human cancer.
Smaldino PJ, Read DF, Pratt-Hyatt M, Hopper AK, Engelke DR., Free PMC Article | 03/7/2015 |
| TRIT1 may control the levels of some tRNAs as well as their specific activity. | Human cells have a limited set of tRNA anticodon loop substrates of the tRNA isopentenyltransferase TRIT1 tumor suppressor.
Lamichhane TN, Mattijssen S, Maraia RJ., Free PMC Article | 02/1/2014 |
| One TRIT1 haplotype, CCGT, was associated with lymph node metastasis. | Association of polymorphisms and haplotype in the region of TRIT1, MYCL1 and MFSD2A with the risk and clinicopathological features of gastric cancer in a southeast Chinese population.
Chen S, Zheng Z, Tang J, Lin X, Wang X, Lin J. | 10/19/2013 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Novel breast cancer risk alleles and interaction with ionizing radiation among U.S. radiologic technologists.
Bhatti P, Doody MM, Rajaraman P, Alexander BH, Yeager M, Hutchinson A, Burdette L, Thomas G, Hunter DJ, Simon SL, Weinstock RM, Rosenstein M, Stovall M, Preston DL, Linet MS, Hoover RN, Chanock SJ, Sigurdson AJ., Free PMC Article | 04/7/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGenetic 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. Ethnic differences in frequencies of gene polymorphisms in the MYCL1 region and modulation of lung cancer patients' survival.
Spinola M, Falvella FS, Galvan A, Pignatiello C, Leoni VP, Pastorino U, Paroni R, Chen S, Skaug V, Haugen A, Dragani TA, Spinola M, Falvella FS, Galvan A, Pignatiello C, Leoni VP, Pastorino U, Paroni R, Chen S, Skaug V, Haugen A, Dragani TA. | 03/13/2008 |
| The rare allele of TRIT1 Phe202Leu SNP was approximately seven-fold more frequent in Asian than in Caucasian subjects and three additional SNPs in the TRIT1 gene showed ethnic differences in allelic frequencies | Ethnic differences in frequencies of gene polymorphisms in the MYCL1 region and modulation of lung cancer patients' survival.
Spinola M, Falvella FS, Galvan A, Pignatiello C, Leoni VP, Pastorino U, Paroni R, Chen S, Skaug V, Haugen A, Dragani TA, Spinola M, Falvella FS, Galvan A, Pignatiello C, Leoni VP, Pastorino U, Paroni R, Chen S, Skaug V, Haugen A, Dragani TA. | 01/21/2010 |