Article
Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients.
Scientific reports - 18 Mar 2016
Di Buduo Christian A, Alberelli Maria Adele, Glembostky Ana C, Podda Gianmarco, Lev Paola R, Cattaneo Marco, Landolfi Raffaele, Heller Paula G, Balduini Alessandra, De Candia Erica
Abstract excerpt
The Gray Platelet Syndrome (GPS) is a rare inherited bleeding disorder characterized by deficiency of platelet α-granules, macrothrombocytopenia and marrow fibrosis. The autosomal recessive form of GPS is linked to loss of function mutations in NBEAL2, which is predicted to regulate granule trafficking in megakaryocytes, the platelet progenitors. We report the first analysis of cultured megakaryocytes from GPS...
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