Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

Glycosylation is recognized as a key process for proper megakaryopoiesis and platelet formation. The enzyme uridine diphosphate (UDP)-galactose-4-epimerase, encoded by GALE, is involved in galactose metabolism and protein glycosylation. Here, we studied 3 patients from 2 unrelated families who showe...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society of Hematology 2023
Materias:
Platelets and Thrombopoiesis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10644051/
https://www.ncbi.nlm.nih.gov/pubmed/36395340
http://dx.doi.org/10.1182/blood.2022016995

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