Nuclear envelope and striated muscle diseases

被引：13

作者：

Chatzifrangkeskou, Maria ^{[1
,2
,3
,4
]}

Bonne, Gisele ^{[1
,2
,3
,4
,5
]}

Muchir, Antoine ^{[1
,2
,3
,4
]}

机构：

[1] UPMC Univ Paris 06, Sorbonne Univ, Ctr Res Myol, UMRS 974, F-75013 Paris, France

[2] INSERM U974, F-75013 Paris, France

[3] CNRS FRE 3617, F-75013 Paris, France

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

[5] Grp Hosp Pitie Salpetriere, Assistance Publ Hop Paris, Serv Biochimie Metabol, UF Cardiogenet & Myogenet, F-75013 Paris, France

来源：

CURRENT OPINION IN CELL BIOLOGY | 2015年 / 32卷

关键词：

A-TYPE LAMINS; DILATED CARDIOMYOPATHY; MUSCULAR-DYSTROPHY; RETINOBLASTOMA PROTEIN; LMNA-MUTATIONS; ROD DOMAIN; A/C GENE; IN-VIVO; EXPRESSION; CELLS;

D O I：

10.1016/j.ceb.2014.09.007

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The nuclear lamina is a mesh-like network of intermediate filaments localized mainly at the inner surface of the inner nuclear membrane and is composed of proteins called lamins. Many inherited diseases are linked with mutations in nuclear lamins and integral proteins of the inner nuclear membrane. In this article, we summarize basic aspects of the nuclear envelope architecture and provide some remarkable findings of the involvement of lamins in striated muscle disorders.

引用

页码：1 / 6

页数：6

共 58 条

[1] ISOLATION OF NUCLEAR-PORE COMPLEXES IN ASSOCIATION WITH A LAMINA
AARONSON, RP
BLOBEL, G
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1975, 72 (03) : 1007 - 1011
[2] Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies
Arimura, T
Helbling-Leclerc, A
Varnous, S
Niel, F
Lacène, E
Fromes, Y
Toussaint, M
Mura, AM
Keller, DI
Amthor, H
Isnard, R
Malissen, M
Schwartz, K
Bonne, G
[J]. HUMAN MOLECULAR GENETICS, 2005, 14 (01) : 155 - 169
[3] Caenorhabditis elegans as a model system for studying the nuclear lamina and laminopathic diseases
Bank, Erin M.
Gruenbaum, Yosef
[J]. NUCLEUS, 2011, 2 (05) : 350 - 357
[4] Ben Yaou R, 2008, NUCL ORG DEV DIS, V264
[5] DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death
Bertrand, Anne T.
Renou, Laure
Papadopoulos, Aurelie
Beuvin, Maud
Lacene, Emmanuelle
Massart, Catherine
Ottolenghi, Chris
Decostre, Valerie
Maron, Sophia
Schlossarek, Saskia
Cattin, Marie-Elodie
Carrier, Lucie
Malissen, Marie
Arimura, Takuro
Bonne, Gisele
[J]. HUMAN MOLECULAR GENETICS, 2012, 21 (05) : 1037 - 1048
[6] Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Bonne, G
Di Barletta, MR
Varnous, S
Bécane, HM
Hammouda, EH
Merlini, L
Muntoni, F
Greenberg, CR
Gary, F
Urtizberea, JA
Duboc, D
Fardeau, M
Toniolo, D
Schwartz, K
[J]. NATURE GENETICS, 1999, 21 (03) : 285 - 288
[7] Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies
Broers, JLV
Peeters, EAG
Kuijpers, HJH
Endert, J
Bouten, CVC
Oomens, CWJ
Baaijens, FPT
Ramaekers, FCS
[J]. HUMAN MOLECULAR GENETICS, 2004, 13 (21) : 2567 - 2580
[8] CANCE WG, 1992, J EXP CLIN CANC RES, V11, P233
[9] Cao K, 2012, CELLULAR BASIS LAMIN
[10] Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity
Cattin, Marie-Elodie
Bertrand, Anne T.
Schlossarek, Saskia
Le Bihan, Marie-Catherine
Skov Jensen, Soren
Neuber, Christiane
Crocini, Claudia
Maron, Sophia
Laine, Jeanne
Mougenot, Nathalie
Varnous, Shaida
Fromes, Yves
Hansen, Arne
Eschenhagen, Thomas
Decostre, Valerie
Carrier, Lucie
Bonne, Gisele
[J]. HUMAN MOLECULAR GENETICS, 2013, 22 (15) : 3152 - 3164

← 1 2 3 4 5 6 →