Sprecher
Beschreibung
Recessive mutations in the gene OSGEP cause Galloway-Mowat syndrome, defined by developmental brain defects and progressive glomerulosclerosis in paediatric patients. OSGEP is part of a multiprotein complex that catalyzes post-transcriptional modifications of tRNA and thereby regulates protein translation. Previous studies reported an accumulation of endoplasmic reticulum stress following OSGEP depletion; however, the exact molecular mechanisms of podocyte injury in this condition remain elusive.