Article
TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins.
Genes - 5 May 2023
Fatica Thet, Naas Turaya, Liwak Urszula, Slaa Hannah, Souaid Maryam, Frangione Brianna, Kattini Ribal, Gaudreau-Lapierre Antoine, Trinkle-Mulcahy Laura, Chakraborty Pranesh, Holcik Martin
Abstract excerpt
Mitochondrial diseases are a group of heterogeneous disorders caused by dysfunctional mitochondria. Interestingly, a large proportion of mitochondrial diseases are caused by defects in genes associated with tRNA metabolism. 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...
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