Karen Rosier

Loss of PREPL alters lipid homeostasis due to mitochondrial defects

This study shows that PREPL deficiency causes mitochondrial dysfunction, leading to lipid accumulation and altered peroxisome morphology, but not direct lipid metabolism regulation.

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

This study identifies shared metabolic pathways between CMS22 and PWS, showing mitochondrial dysfunction and potential therapeutic targets through PREPL.

Missense mutations in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions

The paper investigates missense mutations in PREPL in CMS22 patients, showing they affect non-hydrolytic functions without impairing hydrolase activity.