Nicolas Papadopoulos

This study identifies HNF1B and NPHP3 mutations as causes of a new pancreatic disease, ciliogenic pancreatopathy, characterized by acinar atrophy and adipose replacement, and links ciliary dysfunction to pancreatic dysfunction in humans and mice.

The paper investigates how mutations in the thrombopoietin receptor (TpoR) affect its activation and oncogenicity by altering the helical structure at the cytosolic boundary of the transmembrane domain.

The paper shows that dimeric orientations of C99 influence γ-secretase cleavage lines, affecting Aβ42 processing and gene transcription.