Reduced stability of PRSS1 due to a novel A121T mutation associated with hereditary pancreatitis
T Meister, V Schick, M Wobker, P Felderbauer, W Domschke, W Schmidt, J Schnekenburger · Zeitschrift für Gastroenterologie · 2007 · Heft 09
Bibliografische Angaben
Zusammenfassung
Aims: Hereditary pancreatitis is caused by mutations in the cationic trypsinogen (PRSS1) gene. Although several PRSS1 mutations were reported the molecular mechanisms underlying the pathophysiological process are not understood. The most common R122H PRSS1 mutation inactivates the autocleavage site at R122 most probably resulting in an increased stability of the mutated protein. Recently we identified a new A121T PRSS1 mutation at position -1 of the autocleavage site which differs in many ways from those mutations already known. Our aim was to analyze the kinetics of A121T PRSS1 autodigestion using a newly devel…
