Anne Maria Rochtus

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

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.

This study identifies pathogenic sodium channel variants in SUDP patients and shows they cluster at conserved amino acid sites across the SCN gene family.