Szmola R

No ORCID on file · 4 papers in corpus
2013
Variants in CPA1 are strongly associated with early onset chronic pancreatitis.
Nature genetics ·doi:10.1038/ng.2730

Chronic pancreatitis is an inflammatory disorder of the pancreas. We analyzed CPA1, encoding carboxypeptidase A1, in subjects with nonalcoholic chronic pancreatitis (cases) and controls in a German discovery set and three replication sets. …

2010
Pancreatitis-associated chymotrypsinogen C (CTRC) mutant elicits endoplasmic reticulum stress in pancreatic acinar cells.
Gut ·doi:10.1136/gut.2009.198903

ObjectiveChronic pancreatitis is a progressive inflammatory disorder of the pancreas characterised by permanent destruction of acinar cells. Mutations in the chymotrypsinogen C (CTRC) gene have been linked to the development of chronic panc…

2009
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism.
Human mutation ·doi:10.1002/humu.20853

We investigated the biochemical properties and cellular expression of the c.346C>T (p.R116C) human cationic trypsinogen (PRSS1) mutant, which we identified in a German family with autosomal dominant hereditary pancreatitis. This mutation le…

2008
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.
Nature genetics ·doi:10.1038/ng.2007.44

Chronic pancreatitis is a persistent inflammatory disease of the pancreas, in which the digestive protease trypsin has a fundamental pathogenetic role. Here we have analyzed the gene encoding the trypsin-degrading enzyme chymotrypsin C (CTR…