| First Author | Jones C | Year | 2011 |
| Journal | Am J Pathol | Volume | 179 |
| Issue | 4 | Pages | 1969-77 |
| PubMed ID | 21864493 | Mgi Jnum | J:176287 |
| Mgi Id | MGI:5290006 | Doi | 10.1016/j.ajpath.2011.06.012 |
| Citation | Jones C, et al. (2011) A Novel Type of Macrothrombocytopenia Associated with a Defect in alpha2,3-Sialylation. Am J Pathol 179(4):1969-77 |
| abstractText | We describe a novel type of human thrombocytopenia characterized by the appearance of giant platelets and variable neutropenia. Searching for the molecular defect, we found that neutrophils had strongly reduced sialyl-Lewis X and increased Lewis X surface expression, pointing to a deficiency in sialylation. We show that the glycosylation defect is restricted to alpha2,3-sialylation and can be detected in platelets, neutrophils, and monocytes. Platelets exhibited a distorted structure of the open canalicular system, indicating defective platelet generation. Importantly, patient platelets, but not normal platelets, bound to the asialoglycoprotein receptor (ASGP-R), a liver cell-surface protein that removes desialylated thrombocytes from the circulation in mice. Taken together, this is the first type of human thrombocytopenia in which a specific defect of alpha2,3-sialylation and an induction of platelet binding to the liver ASGP-R could be detected. |
