Article
tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.
European journal of human genetics : EJHG - 1 May 2017
Edvardson Simon, Prunetti Laurence, Arraf Aiman, Haas Drago, Bacusmo Jo Marie, Hu Jennifer F, Ta-Shma Asas, Dedon Peter C, de Crécy-Lagard Valérie, Elpeleg Orly
Abstract excerpt
Post-transcriptional tRNA modifications are numerous and require a large set of highly conserved enzymes in humans and other organisms. In yeast, the loss of many modifications is tolerated under unstressed conditions; one exception is the N6-threonyl-carbamoyl-adenosine (t6A) modification, loss of which causes a severe growth phenotype. Here we aimed at a molecular diagnosis in a brother and sister from a...
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