Ontology highlight
ABSTRACT:
SUBMITTER: Arrondel C
PROVIDER: S-EPMC6722078 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Arrondel Christelle C Missoury Sophia S Snoek Rozemarijn R Patat Julie J Menara Giulia G Collinet Bruno B Liger Dominique D Durand Dominique D Gribouval Olivier O Boyer Olivia O Buscara Laurine L Martin Gaëlle G Machuca Eduardo E Nevo Fabien F Lescop Ewen E Braun Daniela A DA Boschat Anne-Claire AC Sanquer Sylvia S Guerrera Ida Chiara IC Revy Patrick P Parisot Mélanie M Masson Cécile C Boddaert Nathalie N Charbit Marina M Decramer Stéphane S Novo Robert R Macher Marie-Alice MA Ranchin Bruno B Bacchetta Justine J Laurent Audrey A Collardeau-Frachon Sophie S van Eerde Albertien M AM Hildebrandt Friedhelm F Magen Daniella D Antignac Corinne C van Tilbeurgh Herman H Mollet Géraldine G
Nature communications 20190903 1
N<sup>6</sup>-threonyl-carbamoylation of adenosine 37 of ANN-type tRNAs (t<sup>6</sup>A) is a universal modification essential for translational accuracy and efficiency. The t<sup>6</sup>A pathway uses two sequentially acting enzymes, YRDC and OSGEP, the latter being a subunit of the multiprotein KEOPS complex. We recently identified mutations in genes encoding four out of the five KEOPS subunits in children with Galloway-Mowat syndrome (GAMOS), a clinically heterogeneous autosomal recessive dis ...[more]