Journal
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
Volume 29, Issue -, Pages 95-106Publisher
ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.semcdb.2013.12.008
Keywords
Emerin; Emery-Dreifuss muscular dystrophy; Nuclear envelope; Lamina; Laminopathies; Lamins A/C
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Funding
- Ellison Medical Foundation
- National Institutes of Health [T32 GM007197, T32 HL007381]
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Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the genes encoding emerin, lamins A and C and FHL1. Additional EDMD-like syndromes are caused by mutations in nesprins and LUMA. This review will specifically focus on emerin function and the current thinking for how loss or mutations in emerin cause EDMD. Emerin is a well-conserved, ubiquitously expressed protein of the inner nuclear membrane. Emerin has been shown to have diverse functions, including the regulation of gene expression, cell signaling, nuclear structure and chromatin architecture. This review will focus on the relationships between these functions and the EDMD disease phenotype. Additionally it will highlight open questions concerning emerin's roles in cell and nuclear biology and disease. (C) 2014 Elsevier Ltd. All rights reserved.
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