Yenthe Monnens

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

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

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