Type 2 A (group II) von Willebrand disease mutations increase the susceptibility of VWF to ADAMTS-13 [6]

Journal of Thrombosis and Haemostasis

Volumn 2, Issue 11, 2004, Pages 2057-

  Tsai, H M ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; MUTANT PROTEIN; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

AMINO ACID SEQUENCE; DISEASE PREDISPOSITION; ENZYME INHIBITION; HUMAN; IN VITRO STUDY; LETTER; PLASMA FACTOR; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FUNCTION; SHEAR STRESS; VON WILLEBRAND DISEASE; WILD TYPE;

ADAM PROTEINS; EDETIC ACID; HUMANS; METALLOENDOPEPTIDASES; MOLECULAR WEIGHT; MUTATION, MISSENSE; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 19944434162     PISSN: 15387933     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2004.00985.x     Document Type: Letter

References (4)

1. O'Brien LA, Sutherland JJ, Hegadorn C, Benford K, Racz H, Rapson D, Hough C, Lillicrap D. A novel type 2A (group II) von Willebrand disease mutation (L1503Q) associated with loss of the highest molecular weight von Willebrand factor multimers. J Thromb Haemost 2004; 2 1135-42.
2. Tsai HM, Sussman II, Ginsburg D, Lankhof H, Sixma JJ, Nagel RL. Proteolytic cleavage of recombinant type 2A von Willebrand factor mutants R834W and R834Q: inhibition by doxycycline and by monoclonal antibody VP-1. Blood 1997; 89: 1954-62.
3. Gralnick HR, Williams SB, McKeown LP, Maisonneuve P, Jenneau C, Sultan Y, Rick ME. In vitro correction of the abnormal multimeric structure of von Willebrand factor in type IIa von Willebrand's disease. Proc Natl Acad Sci USA 1985; 82: 5968-72.
4. Batlle J, Lopez Fernandez MF, Campos M, Justica B, Berges C, Navarro JL, Diaz Cremades JM, Kasper CK, Dent JA, Ruggeri ZM. The heterogeneity of type IIA von Willebrand's disease: studies with protease inhibitors. Blood 1986; 68: 1207-12.