Striated muscle laminopathies

被引：30

作者：

Azibani, Feriel ^{[1
,2
]}

Muchir, Antoine ^{[1
,2
]}

Vignier, Nicolas ^{[1
,2
]}

Bonne, Gisele ^{[1
,2
,3
]}

Bertrand, Anne T. ^{[1
,2
]}

机构：

[1] Univ Paris 06, INSERM, U974, F-75013 Paris, France

[2] Inst Myol, F-75013 Paris, France

[3] Grp Hosp Pitie Salpetriere, AP HP, UF Cardiogenet & Myogenet, Serv Biochim Metab, F-75013 Paris, France

来源：

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY | 2014年 / 29卷

关键词：

Lamin A/C; Muscular and cardiac dystrophy; Lmna mouse models; Pharmacologic treatments; DREIFUSS MUSCULAR-DYSTROPHY; LAMIN A/C GENE; A-TYPE LAMINS; SIGNAL-REGULATED KINASE; LMNA-MUTATIONS CAUSE; DILATED CARDIOMYOPATHY; NUCLEAR-ENVELOPE; SKELETAL-MUSCLE; CONDUCTION-SYSTEM; MOUSE MODEL;

D O I：

10.1016/j.semcdb.2014.01.001

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

引用

页码：107 / 115

页数：9

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