Pub. Date : 2010 Jun 3
PMID : 20335223
5 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF. | propeptide | von Willebrand factor | Homo sapiens |
| 2 | The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF. | propeptide | von Willebrand factor | Homo sapiens |
| 3 | The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF. | propeptide | von Willebrand factor | Homo sapiens |
| 4 | We identified an N528S homozygous mutation in the VWF propeptide D2 domain, predicting the introduction of an additional N-glycosylation site at amino acid 526 in close vicinity to a "CGLC" disulphide isomerase consensus sequence. | propeptide | von Willebrand factor | Homo sapiens |
| 5 | In addition, we have identified a potentially novel pathogenic mechanism of VWD, namely a transportation and storage defect of mature VWF due to defective interaction with its transporter, the mutant propeptide. | propeptide | von Willebrand factor | Homo sapiens |