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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 |
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