Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy

被引：80

作者：

Morris, GE ^{[1
]}

Manilal, S ^{[1
]}

机构：

[1] NE Wales Inst, MRIC Biochem Grp, Wrexham LL11 2AW, Wales

来源：

HUMAN MOLECULAR GENETICS | 1999年 / 8卷 / 10期

关键词：

D O I：

10.1093/hmg/8.10.1847

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Emery-Dreifuss muscular dystrophy has some remarkably specific features, with only cardiac and skeletal tissues being affected. Equally remarkably, the disease is caused by mutations in widely expressed genes for the nuclear membrane/lamina proteins, emerin and lamin A/C. Mow do mutations in proteins at the heart of the cell lead to stiff joints and sudden heart failure? This and related questions are the subject of this review.

引用

页码：1847 / 1851

页数：5

共 58 条

[1] IDENTIFICATION OF A NOVEL X-LINKED GENE RESPONSIBLE FOR EMERY-DREIFUSS MUSCULAR-DYSTROPHY [J].

BIONE, S ;

MAESTRINI, E ;

RIVELLA, S ;

MANCINI, M ;

REGIS, S ;

ROMEO, G ;

TONIOLO, D .

NATURE GENETICS, 1994, 8 (04) :323-327

[2] Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy [J].

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 .

NATURE GENETICS, 1999, 21 (03) :285-288

[3] HUMAN-CHROMOSOME-19P - A FLUORESCENCE IN-SITU HYBRIDIZATION MAP WITH GENOMIC DISTANCE ESTIMATES FOR 79 INTERVALS SPANNING 20-MB [J].

BRANDRIFF, BF ;

GORDON, LA ;

FERTITTA, A ;

OLSEN, AS ;

CHRISTENSEN, M ;

ASHWORTH, LK ;

NELSON, DO ;

CARRANO, AV ;

MOHRENWEISER, HW .

GENOMICS, 1994, 23 (03) :582-&

[4]

BRIDGER JM, 1993, J CELL SCI, V104, P297

[5] Putting the genome on the map [J].

Bridger, JM ;

Bickmore, WA .

TRENDS IN GENETICS, 1998, 14 (10) :403-409

[6] A- and B-type lamins are differentially expressed in normal human tissues [J].

Broers, JLV ;

Machiels, BM ;

Kuijpers, HJH ;

Smedts, F ;

vandenKieboom, R ;

Raymond, Y ;

Ramaekers, FCS .

HISTOCHEMISTRY AND CELL BIOLOGY, 1997, 107 (06) :505-517

[7] Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy [J].

Cartegni, L ;

diBarletta, MR ;

Barresi, R ;

Squarzoni, S ;

Sabatelli, P ;

Maraldi, N ;

Mora, M ;

DiBlasi, C ;

Cornelio, F ;

Merlini, L ;

Villa, A ;

Cobianchi, F ;

Toniolo, D .

HUMAN MOLECULAR GENETICS, 1997, 6 (13) :2257-2264

[8] Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy [J].

Ellis, JA ;

Yates, JRW ;

Kendrick-Jones, J ;

Brown, CA .

HUMAN GENETICS, 1999, 104 (03) :262-268

[9]

Ellis JA, 1998, J CELL SCI, V111, P781

[10] EMERY-DREIFUSS SYNDROME [J].

EMERY, AEH .

JOURNAL OF MEDICAL GENETICS, 1989, 26 (10) :637-641

← 1 2 3 4 5 6 →