Benutzer: Gast  Login
Mehr Felder
Einfache Suche
Titel:

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

Dokumenttyp:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Autor(en):
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...     »
Zeitschriftentitel:
Gut
Jahr:
2014
Band / Volume:
63
Heft / Issue:
2
Seitenangaben Beitrag:
337-43
Sprache:
eng
Volltext / DOI:
doi:10.1136/gutjnl-2012-304331
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/23455445
Print-ISSN:
0017-5749
TUM Einrichtung:
Else Kröner-Fresenius-Zentrum für Ernährungsmedizin - Klinik für Ernährungsmedizin
 BibTeX