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Novel variants in GALEcause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

Authors :
Marín-Quílez, Ana
Di Buduo, Christian Andrea
Díaz-Ajenjo, Lorena
Abbonante, Vittorio
Vuelta, Elena
Soprano, Paolo Maria
Miguel-García, Cristina
Santos-Mínguez, Sandra
Serramito-Gómez, Inmaculada
Ruiz-Sala, Pedro
Peñarrubia, María Jesús
Pardal, Emilia
Hernández-Rivas, Jesús María
González-Porras, José Ramón
García-Tuñón, Ignacio
Benito, Rocío
Rivera, José
Balduini, Alessandra
Bastida, José María
Source :
Blood; January 2023, Vol. 141 Issue: 4 p406-421, 16p
Publication Year :
2023

Abstract

•GALEis expressed during late-stage megakaryopoiesis, regulating the glycosylation and surface exposure of GPIbα and β1 integrin.•Novel GALEvariants cause syndromic macrothrombocytopenia associated with impaired platelet formation and function.

Details

Language :
English
ISSN :
00064971 and 15280020
Volume :
141
Issue :
4
Database :
Supplemental Index
Journal :
Blood
Publication Type :
Periodical
Accession number :
ejs61423831
Full Text :
https://doi.org/10.1182/blood.2022016995