The arginine-552-cysteine (R1315C) mutation within the A1 loop of von willebrand factor induces an abnormal folding with a loss of function resulting in type 2A-like phenotype of von Willebrand disease: Study of 10 patients and mutated recombinant von Willebrand factor

Blood

Volumn 97, Issue 4, 2001, Pages 952-959

  Ribba, A S ^a   Hilbert, L ^a   Lavergne, J M ^a   Fressinaud, E ^a   Boyer Neumann, C ^a   Ternisien, C ^a   Juhan Vague, I ^a   Goudemand, J ^a   Girma, J P ^a   Mazurier, C ^a   Meyer, D ^a  

^a BICÊTRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; BOTROCETIN; CYSTEINE; GLYCOPROTEIN IB; RISTOCETIN; THREONINE; VON WILLEBRAND FACTOR;

ADULT; ARTICLE; BLEEDING TIME; CHILD; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; GENOTYPE; HUMAN; IN VITRO STUDY; MALE; MOLECULAR WEIGHT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN PROTEIN INTERACTION; SITE DIRECTED MUTAGENESIS; THROMBOCYTE AGGLUTINATION; VON WILLEBRAND DISEASE;

EID: 0035865512     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V97.4.952     Document Type: Article

References (44)

1. Biochemistry and genetics of von Willebrand factor
2. Ristocetin and botrocetin involve two distinct domains of von Willebrand factor for binding to platelet membrane glycoprotein lb
3. Identification of discontinuous von Willebrand factor sequences involved in complex formation with botrocetin: A model for the regulation of von Willebrand factor binding to platelet glycoprotein-lb
4. Identification of aspartic acid-514 through glutamic acid-542 as a glycoprotein-lb-IX complex receptor recognition sequence in von Willebrand factor: Mechanism of modulation of von Willebrand factor by ristocetin and botrocetin
5. Von Willebrand factor: A reduced and alkylated 52/48-kDa fragment beginning at amino acid residue 449 contains the domain interacting with platelet glycoprotein lb
6. Effect of deletion of the A1 domain of von Willebrand factor on its binding to heparin, collagen and platelets in the presence of ristocetin
7. The interaction of the von Willebrand factor-A1 domain with platelet glycoprotein lb/IX
8. Analysis of structure-function relationships in the platelet membrane glycoprotein lb-binding domain of von Willebrand's factor by expression of deletion mutants
9. Identification of amino acid residues essential for von Willebrand factor binding to platelet glycoprotein lb: Charged-to-alanine scanning mutagenesis of the A1 domain of human von Willebrand factor
10. Analysis of the structure and function of the von Willebrand factor A1 domain using targeted deletions and alanine-scanning mutagenesis
11. Localization of von Willebrand factor-binding sites for platelet glycoprotein lb and botrocetin by charged-to-alanine scanning mutagenesis
12. Modeling and functional analysis of the interaction between von Willebrand factor A1 domain and glycoprotein lb alpha
13. Crystal structure of the von Willebrand factor A1 domain and implications for the binding of platelet glycoprotein lb
14. Crystal structure of the von Willebrand factor A1 domain in complex with the function blocking NMC-4 Fab
15. Von Willebrand disease: A database of point mutations, insertions, and deletions
16. Molecular genetics of von Willebrand disease
17. Type 2M: Milwaukee-1 von Willebrand disease: An in-frame deletion in the Cys509-Cys695 loop of the von Willebrand factor A1 domain causes deficient binding of von Willebrand factor to platelets
18. Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: From the patient to the gene
19. Type 2M von Willebrand disease: F606I and I662F mutations in the glycoprotein lb binding domain selectively impair ristocetin - But not botrocetin-mediated binding of von Willebrand factor to platelets
20. Defects in type 2A von Willebrand disease: A cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprorein lb-IX
21. Discrepancy between 2A-phenotype and 2B-genotype in a patient with a variant of von Willebrand disease
22. Diagnosis of subtype 2B von Willebrand disease in a patient with 2A phenotype of plasma von Willebrand factor
23. Expressed full-length von Willebrand factor containing missense mutations linked to type-2B von Willebrand disease shows enhanced binding to platelets
24. Effect of type 2B von Willebrand disease mutation Arg(545)Cys on platelet glycoprotein lb binding-studies with recombinant von Willebrand factor
25. Characterization of recombinant von Willebrand factors mutated on cysteine 509 or 695
26. Laboratory diagnosis of von Willebrand disease
27. Usefulness of a functional test based on the von Willebrand factor: Collagen binding to classify von Willebrand patients
28. Estimation of the von Willebrand factor-cleaving protease in plasma using monoclonal antibodies to VWF
29. Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (VWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of VWF
30. Leu 697- →Val mutation in mature von Willebrand factor is responsible for type 2B von Willebrand disease
31. Fine epitope mapping of monoclonal antibodies to the NH2-terminal part of von Willebrand factor (VWF) by using recombinant and synthetic peptides: Interest for the localization of the factor VIII binding domain
32. Epitope mapping of inhibitory monoclonal antibodies to human von Willebrand factor by using recombinant eDNA libraries
33. Duplication of a methionine within the glycoprotein lb binding domain of von Willebrand factor detected by denaturing gradient gel electrophoresis in a patient with type-2B von Willebrand disease
34. Characterization of 98 alleles in 105 unrelated individuals in the F8VWF gene
35. Characterization of von Willebrand factor gene defects in two unrelated patients with IIC von Willebrand disease
36. Protein and cell membrane iodinations with a sparingly soluble chloroamide, 1, 3, 4, 6- tetrachloro-3a, 6a-diphenylglycoluril
37. A monoclonal antibody (B724) to von Willebrand factor recognizing an epitope within the A1 disulphide loop (Cys509-Cys695) discriminates between type 2A and type 2B von Willebrand disease
38. Influence of mutations and size of multimers in type II von Willebrand disease upon the function of von Willebrand factor
39. A revised classification of von Willebrand disease
40. Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: New mutations, R1315C and R1341W, associated with type 2M and 2B variants
41. Heterogeneity of plasma von Willebrand-factor multimers resulting from proteolysis of the constituent subunit
42. Impaired intracellular transport produced by a subset of type-2A von Willebrand disease mutations
43. Type 2B von Willebrand's disease: Gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden
44. Comparative analysis of type 2B von Willebrand disease mutations: Implications for the mechanism of von Willebrand factor binding to platelets