Exploring metabolic pathways that link Congenital Myasthenic Syndrome-22, caused by PREPL deficiency to Prader-Willi Syndrome KU Leuven
Inactivation of PREPL (Prolyl Endopeptidase-Like) causes a recessive disease similar to Prader-Willi syndrome (PWS) and is characterized by neonatal hypotonia, growth deficiency, feeding problems, and mild cognitive delay. How PREPL deficiency causes these pathologies is currently unknown. Creemers Lab has recently found that PREPL can be inhibited by a palmitoyl-protein thioesterase inhibitor and can cleave synthetic (thio)esterase ...