𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The Pathobiochemistry of Hereditary Pancreatitis: Studies on Recombinant Human Cationic Trypsinogen

✍ Scribed by Sahin-Tóth, Miklós

Book ID
123338762
Publisher
S. Karger AG
Year
2001
Tongue
English
Weight
102 KB
Volume
1
Category
Article
ISSN
1424-3903

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Mutations of the cationic trypsinogen in
Mutations of the cationic trypsinogen in hereditary pancreatitis
✍ Niels Teich; Joachim MΓΆssner; Volker Keim πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 168 KB

Hereditary pancreatitis (OMIM 167800) is thought to be associated with a mutation of the exon 3 of cationic trypsinogen (Nature Genet (1996): 14:141-145). This paper reports sequence data of two independent families suffering from this disease. PCR amplificates from leukocyte or buccal swab DNA show

Hereditary pancreatitis caused by mutati
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: A novel disease mechanism
✍ Γ‰va Kereszturi; RichΓ‘rd Szmola; ZoltΓ‘n Kukor; Peter Simon; Frank Ulrich Weiss; M πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 269 KB

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 leads to an unpaired Cys residue with the potential to interfe