David Groth

This study examines PS1 and PS2 expression differences in neural cell lines and shows PS2 ablation increases PS1 expression, highlighting their distinct roles in gamma-secretase activity.

This study identifies biallelic HMGCS1 variants as a novel cause of rigid spine syndrome, showing hypomorphic effects through functional and clinical analyses.

This study uses molecular simulations to compare substrate preferences between PS1 and PS2 γ-secretase enzymes for APP and Notch1 processing, revealing differences in conformational flexibility and binding energy.