期刊
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
卷 29, 期 -, 页码 107-115出版社
ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.semcdb.2014.01.001
关键词
Lamin A/C; Muscular and cardiac dystrophy; Lmna mouse models; Pharmacologic treatments
资金
- Institut National de la Sante et de la Recherche Medicale
- Universite Pierre et Marie Curie Paris 06
- Centre National de la Recherche Scientifique
- COST action [BM1002]
- Association Francaise contre les Myopathies
Lamins A and C, encoded by LMNA, are constituent of the nuclear lamina, a meshwork of proteins underneath the nuclear envelope first described as scaffolding proteins of the nucleus. Since the discovery of LMNA mutations in highly heterogeneous human disorders (including cardiac and muscular dystrophies, lipodystrophies and progeria), the number of functions described for lamin A/C has expanded. Lamin A/C is notably involved in the regulation of chromatin structure and gene transcription, and in the resistance of cells to mechanical stress. This review focuses on studies performed on knock-out and knock-in Lmna mouse models, which have led to decipher some of the lamin A/C functions in striated muscles and to the first preclinical trials of pharmaceutical therapies. (C) 2014 Elsevier Ltd. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据