| http://purl.uniprot.org/citations/7814636 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7814636 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7814636 | http://www.w3.org/2000/01/rdf-schema#comment | "The last exon of the C1-1NH gene was screened for point mutations in 36 unrelated hereditary angioedema patients. Mutations were found in eight patients, predicting changes in the short COOH-terminal region which anchors the reactive site loop on its COOH-terminal side. The effects of each of these mutations were examined in transiently transfected Cos-7 cells. Complete intracellular retention or degradation was observed with substitutions in the COOH-terminal strands 4B or 5B: Leu459-->Pro, Leu459-->Arg, and Pro467-->Arg were all blocked at early stages of intracellular transport, but differences in the immunofluorescence patterns indicated that a significant fraction of the Leu459-->Pro and of the Pro467-->Arg proteins reached a compartment distinct from the endoplasmic reticulum. In line with previous findings with alpha 1-antitrypsin, chain termination within strand 5B resulted in rapid degradation. Mutant Val451-->Met, in strand 1C, and mutant Pro476-->Ser, replacing the invariant proline near the COOH terminus, yielded reduced secretion, but these extracellular proteins were unable to bind the target protease C1s. Presence of low levels of both dysfunctional proteins in patient plasmas defies the conventional classification of C1 inhibitor deficiencies as type I or type II. These data point to a key role of certain residues in the conserved COOH-terminal region of serpins in determining the protein foldings compatible with transport and proper exposure of the reactive site loop."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci117663"xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci117663"xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/author | "Couture-Tosi E."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/author | "Couture-Tosi E."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/author | "Meo T."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/author | "Meo T."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/author | "Tosi M."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/author | "Tosi M."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/author | "Eldering E."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/author | "Eldering E."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/author | "Lopez-Trascasa M."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/author | "Lopez-Trascasa M."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/author | "Spath P."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/author | "Spath P."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/author | "Verpy E."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/author | "Verpy E."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/name | "J. Clin. Invest."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/name | "J. Clin. Invest."xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/pages | "350-359"xsd:string |
| http://purl.uniprot.org/citations/7814636 | http://purl.uniprot.org/core/pages | "350-359"xsd:string |