Enhanced binding of GP1BA variant to VWF multimer:collagen

Stable Identifier
R-HSA-9845620
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Enhanced binding of GP1BA variant to VWF multimer:collagen
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The Reactome event describes gain-of-function variants of glycoprotein Ib α (GPIbα, encoded by GP1BA) that cause macrothrombocytopenia and mucocutaneous bleeding in patients with platelet-type von Willebrand disease (PT-VWD) due to enhanced affinity for von Willebrand factor (VWF).
Literature References
PubMed ID Title Journal Year
24474090 Identification of p.W246L as a novel mutation in the GP1BA gene responsible for platelet-type von Willebrand disease

Bermejo, E, Alberto, MF, Woods, AI, Kempfer, AC, Sanchez-Luceros, A, Grosso, SH, Paiva, J, Lazzari, MA

Semin Thromb Hemost 2014
2052556 Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease

Cunningham, D, Miller, JL, Lyle, VA, Finch, CN

Proc Natl Acad Sci U S A 1991
23014764 A novel D235Y mutation in the GP1BA gene enhances platelet interaction with von Willebrand factor in an Iranian family with platelet-type von Willebrand disease

Othman, M, Jazebi, M, Ravanbod, S, Rassoulzadegan, M, Emsley, J, Ala, F, Tarighat, S, Enayat, S

Thromb Haemost 2012
14521605 Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease

Sugita, K, Matsubara, Y, Murata, M, Ikeda, Y

J Thromb Haemost 2003
8384898 Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor

Roth, GJ, Russell, SD

Blood 1993
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
blood platelet disease DOID:2218 platelet disorder, Thrombocytopathy
Authored
Shamovsky, V  (2023-01-07)
Reviewed
Gao, R  (2023-11-06)
Created
Shamovsky, V  (2023-10-06)
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