Emerin in health and disease

Adam J. Koch, James M. Holaska

Research output: Contribution to journalReview articlepeer-review

38 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)95-106
Number of pages12
JournalSeminars in Cell and Developmental Biology
Volume29
DOIs
StatePublished - May 2014

All Science Journal Classification (ASJC) codes

  • Developmental Biology
  • Cell Biology

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