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Title:

Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.

Document type:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Author(s):
Schnúr, A; Beer, S; Witt, H; Hegyi, P; Sahin-Tóth, M
Abstract:
Hereditary pancreatitis is caused by mutations in human cationic trypsinogen (PRSS1) which lead to increased autoactivation by altering chymotrypsin C (CTRC)-dependent trypsinogen activation and degradation. Exceptions are some cysteine mutations which cause misfolding, intracellular retention and endoplasmic reticulum stress. Clinical relevance of many PRSS1 variants found in patients with sporadic chronic pancreatitis is unknown but often assumed by analogy with known disease-causing mutations...     »
Journal title abbreviation:
Gut
Year:
2014
Journal volume:
63
Journal issue:
2
Pages contribution:
337-43
Language:
eng
Fulltext / DOI:
doi:10.1136/gutjnl-2012-304331
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/23455445
Print-ISSN:
0017-5749
TUM Institution:
Else Kröner-Fresenius-Zentrum für Ernährungsmedizin - Klinik für Ernährungsmedizin
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