The novel ADAMTS13-p.D187H mutation impairs ADAMTS13 activity and secretion and contributes to thrombotic thrombocytopenic purpura in mice

Journal of Thrombosis and Haemostasis

Volumn 13, Issue 2, 2015, Pages 283-292

  De Cock, E ^a   Hermans, C ^b   De Raeymaecker, J ^a   De Ceunynck, K ^a   De Maeyer, B ^a   Vandeputte, N ^a   Vandenbulcke, A ^a   Deckmyn, H ^a   Rottensteiner, H ^c   De Maeyer, M ^a   De Meyer, S F ^a   Vanhoorelbeke, K ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^c BAXTER INNOVATIONS GMBH   (Austria)

Author keywords

ADAMTS13 protein, human; ADAMTS13 protein, mouse; Animal model; Mutation; Thrombotic thrombocytopenic purpura

Indexed keywords

CALCIUM ION; RECOMBINANT VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE; ADAM PROTEIN; ADAMTS13 PROTEIN, HUMAN; ADAMTS13 PROTEIN, MOUSE; CALCIUM; METALLOPROTEINASE; PROTEIN BINDING;

AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BINDING SITE; CONTROLLED STUDY; DOWN REGULATION; ENZYME ACTIVITY; ENZYME RELEASE; EXON; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; INTRON; MOLECULAR DYNAMICS; MOUSE; NONHUMAN; PLASMID; PREGNANCY; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN SECRETION; STABLE EXPRESSION; THROMBOTIC THROMBOCYTOPENIC PURPURA; TRANSIENT EXPRESSION; ADULT; ANIMAL; BLOOD; CASE REPORT; DEFICIENCY; DISEASE MODEL; ENZYMOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; HEK293 CELL LINE; KNOCKOUT MOUSE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; THROMBOCYTE;

ADAM PROTEINS; ADULT; ANIMALS; BINDING SITES; BLOOD PLATELETS; CALCIUM; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HOMOZYGOTE; HUMANS; METALLOENDOPEPTIDASES; MICE, KNOCKOUT; MOLECULAR DYNAMICS SIMULATION; MUTATION, MISSENSE; PHENOTYPE; PREGNANCY; PROTEIN BINDING; PURPURA, THROMBOTIC THROMBOCYTOPENIC; TRANSFECTION;

EID: 84922768425     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/jth.12804     Document Type: Article

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