Novel Pathogenic Variant p.Glu190Lys in a Case of Chronic Pancreatitis

scientific article published on 06 February 2019

Novel Pathogenic Variant p.Glu190Lys in a Case of Chronic Pancreatitis is …
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scholarly articleQ13442814

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P356DOI10.3389/FGENE.2019.00046
P932PMC publication ID6375306
P698PubMed publication ID30792736

P50authorEvette S. RadiskyQ56027708
Grzegorz OraczQ57910035
Agnieszka RygielQ79441463
P2093author name stringMiklós Sahin-Tóth
Zsanett Jancsó
Aleksandra Anna Kujko
Eliwira Kolodziejczyk
P2860cites workHereditary pancreatitis is caused by a mutation in the cationic trypsinogen geneQ24311652
Chymotrypsin C (caldecrin) promotes degradation of human cationic trypsin: identity with Rinderknecht's enzyme YQ24675338
Structural basis for accelerated cleavage of bovine pancreatic trypsin inhibitor (BPTI) by human mesotrypsinQ27649308
Long-range Electrostatic Complementarity Governs Substrate Recognition by Human Chymotrypsin C, a Key Regulator of Digestive Enzyme ActivationQ27676497
Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent PathwayQ33843764
Bluues: a program for the analysis of the electrostatic properties of proteins based on generalized Born radiiQ34247986
Protein surface charge of trypsinogen changes its activation patternQ35534772
Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin CQ36016998
Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitisQ36775826
Human cationic trypsinogen (PRSS1) variants and chronic pancreatitisQ37629167
Chymotrypsin C (caldecrin) stimulates autoactivation of human cationic trypsinogenQ38290039
Expression of human cationic trypsinogen with an authentic N terminus using intein-mediated splicing in aminopeptidase P deficient Escherichia coliQ38605810
Genetic risk in chronic pancreatitis: the misfolding-dependent pathwayQ39398523
Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants.Q42145402
Expression of recombinant proteins with uniform N-terminiQ42219434
Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitisQ48120455
Novel PRSS1 Mutation p.P17T Validates Pathogenic Relevance of CTRC-Mediated Processing of the Trypsinogen Activation Peptide in Chronic Pancreatitis.Q50034038
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P921main subjectchronic pancreatitisQ1996053
P304page(s)46
P577publication date2019-02-06
P1433published inFrontiers in GeneticsQ2499875
P1476titleNovel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis
P478volume10