Paul C. Marcogliese

The paper uses Drosophila to model CK2 variants causing neurodevelopmental disorders, finding loss- and gain-of-function effects and Wnt/β-catenin-mediated phenotypes.

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

This paper identifies TMX2 as a regulator of ER-mitochondria contacts by preventing TOM70 sulfenylation, linking its dysfunction to neurodevelopmental disorders.

This study shows that loss of MECR causes elevated ceramide levels and impaired iron metabolism, linking mitochondrial fatty acid synthesis to neurodegeneration.

The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.

The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.

This study shows TM2D genes regulate Notch signaling and neuronal function in Drosophila, with implications for Alzheimer's disease.

This study identifies cell-specific roles of AD risk genes in ROS-induced glial lipid droplet formation and shows how their loss affects Aβ42 toxicity and plaque formation.

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.