Associated Papers
Identification of a Novel TRIT1 Mutation in a Consanguineous Iranian-Azeri-Turkish Family With Global Developmental Delay.
Beyad F et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.
Turkyilmaz A et al.
Clinical Genetics, 2025
Arginine to glutamine mutation in the substrate binding region impaired the isopentenyl activity of Mycobacterium tuberculosis MiaA.
Soman S et al.
Molecular Biology Research Communications, 2024
Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy.
Shafique A et al.
Gene, 2023
TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels.
Muylle E et al.
Journal of Inherited Metabolic Disease, 2022
Modifications of the human tRNA anticodon loop and their associations with genetic diseases.
Zhou JB et al.
Cellular and Molecular Life Sciences : Cmls, 2021
The Effect of tRNA[Ser]Sec Isopentenylation on Selenoprotein Expression.
Fradejas-Villar N et al.
International Journal of Molecular Sciences, 2021
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Kernohan KD et al.
Human Mutation, 2017
Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism.
Schweizer U et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016
Epilepsy in adults with mitochondrial disease: A cohort study.
Whittaker RG et al.
Annals of Neurology, 2015
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.
Yarham JW et al.
Plos Genetics, 2014
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