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Hereditary pancreatitis caused by mutation induced misfolding of human cationic trypsinogen - a novel disease mechanism

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 inte...

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Hlavní autoři: Kereszturi, Éva, Szmola, Richárd, Kukor, Zoltán, Simon, Peter, Weiss, Frank Ulrich, Lerch, Markus M., Sahin-Tóth, Miklós
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2663013/
https://ncbi.nlm.nih.gov/pubmed/19191323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20853
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