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Defects in tA tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.

Nat Commun. 2019; 
Arrondel Christelle,Missoury Sophia,Snoek Rozemarijn,Patat Julie,Menara Giulia,Collinet Bruno,Liger Dominique,Durand Dominique,Gribouval Olivier,Boyer Olivia,Buscara Laurine,Martin Gaëlle,Machuca Eduardo,Nevo Fabien,Lescop Ewen,Braun Daniela A,Boschat Anne-Claire,Sanquer Sylvia,Guerrera Ida Chiara,Revy Patrick,Parisot Mélanie,Masson Cécile,Boddaert Nathalie,Charbit Marina,Decramer Stéphane,Novo Robert,Macher Marie-Alice,Ranchin Bruno,Bacchetta Justine,Laurent Audrey,Collardeau-Frachon Sophie,van Eerde Albertien M,Hildebrandt Friedhelm,Magen Daniella,Antignac Corinne,van Tilbeurgh Herman,Mollet Géral
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Nucleic Acid Purification & Analysis ing the full-length proteins of GON7, LAGE3, and OSGEP. For NMR experiments, two vectors were ordered from Genscript (Piscataway, USA) for the expression of either unlabeled his-tagged LAGE3 (vector “pET21aLAGE3_hisTEV_op”) or 15N-labeled his-tagged GON7 (vector “pET24dC14_hisTEV_op”) whose sequences are shown in Supplementary Table 8 Get A Quote

摘要

N-threonyl-carbamoylation of adenosine 37 of ANN-type tRNAs (tA) is a universal modification essential for translational accuracy and efficiency. The tA 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 disease characterized by early-onset steroid-resistant nephrotic syndrome and microcephaly. Here we show that mutations in YRDC cause an extremely severe form of GAMOS whereas mutations in GON7, encoding the fifth KEOPS subunit, lead to a milder for... More

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