| Literature DB >> 10965799 |
S Squarzoni1, P Sabatelli, C Capanni, S Petrini, A Ognibene, D Toniolo, F Cobianchi, G Zauli, A Bassini, A Baracca, C Guarnieri, L Merlini, N M Maraldi.
Abstract
Emerin is an almost ubiquitous protein which is abnormal in X-linked Emery-Dreifuss muscular dystrophy (EMD), a syndrome characterized by muscle weakness, joint contractures and cardiac arrhythmia. Emerin is localized in the cells at the nuclear rim and its function is still unknown. In some models, emerin has also been described in the cytoplasm; however, its presence outside the nucleus is still matter of debate. We report the presence of emerin in circulating normal human platelets and its absence in platelets from X-linked EMD patients. Since platelets are cytoplasmic fragments derived from megakaryocytes, the presence of emerin in platelets confirms cytoplasmic localization of this protein, probably related to specific functions. We found also that emerin is present in the cytoplasm of megakaryocytes, while it is absent in circulating granulocytes.Entities:
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Year: 2000 PMID: 10965799 DOI: 10.1007/s004019900169
Source DB: PubMed Journal: Acta Neuropathol ISSN: 0001-6322 Impact factor: 17.088