TY  - JOUR 
AU  - Marín Quílez, Ana
AU  - Di Buduo, Christian Andrea
AU  - Díaz-Ajenjo, Lorena
AU  - Abbonante, Vittorio
AU  - Vuelta Ramos, Elena
AU  - Soprano, Paolo Maria
AU  - Miguel-García, Cristina
AU  - Santos-Mínguez, Sandra
AU  - Serramito Gómez, Inmaculada
AU  - Ruiz-Sala, Pedro
AU  - Peñarrubia, María Jesús
AU  - Pardal, Emilia
AU  - Hernández Rivas, Jesús María
AU  - González Porras, José Ramón
AU  - García-Tuñón, Ignacio
AU  - Benito Sánchez, Rocío
AU  - Rivera, José
AU  - Balduini, Alessandra
AU  - Bastida Bermejo, José María
PY  - 2023
UR  - http://hdl.handle.net/10366/171404
AB  - [EN]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...
LA  - eng
KW  - Thrombocytopenia
KW  - UDPglucose 4-Epimerase
KW  - Humans
KW  - Blood Platelets
KW  - Galactose
KW  - Glycosylation
KW  - Integrin beta1
KW  - Megakaryocytes
KW  - Thrombopoiesis
KW  - Uridine Diphosphate
KW  - Thrombocytopenia
KW  - Galactose
KW  - Glycosylation
KW  - Blood Platelets
KW  - Uridine Diphosphate
KW  - Humans
KW  - Thrombopoiesis
KW  - UDPglucose 4-Epimerase
KW  - Megakaryocytes
TI  - Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis
DO  - 10.1182/blood.2022016995
T2  - Blood
VL  - 141
M2  - 406
ER  -