Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome

In conclusion, we provide the first molecular parallels between CMS22 and PWS, raising the possibility that PREPL substrates might become therapeutic targets for treating both disorders.PMID:38626828 | DOI:10.1016/j.bbadis.2024.167175

Source: Biochimica et Biophysica Acta - April 16, 2024 Category: Biochemistry Authors: Kritika Bhalla Karen Rosier Yenthe Monnens Sandra Meulemans Ellen Vervoort Lieven Thorrez Patrizia Agostinis Daniel T Meier Anne Rochtus James L Resnick John W M Creemers Source Type: research