Muscular dystrophies and the dystrophin-glycoprotein complex

被引：314

作者：

Straub, V ^{[1
]}

Campbell, KP ^{[1
]}

机构：

[1] UNIV IOWA, COLL MED, HOWARD HUGHES MED INST, DEPT PHYSIOL & BIOPHYS, IOWA CITY, IA 52242 USA

来源：

CURRENT OPINION IN NEUROLOGY | 1997年 / 10卷 / 02期

关键词：

D O I：

10.1097/00019052-199704000-00016

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Efforts to understand the function of dystrophin, the protein product for the Duchenne muscular dystrophy gene, resulted in the purification of the dystrophin-glycoprotein complex. Over the past year several novel components of this complex have been identified. Recent studies have extended the number of muscular dystrophies associated with the oligomeric complex to six genetically distinct diseases, including three new forms of limb-girdle muscular dystrophy and one form of congenital muscular dystrophy.

引用

页码：168 / 175

页数：8

共 63 条

[1] The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives
Ahn, AH
Freener, CA
Gussoni, E
Yoshida, M
Ozawa, E
Kunkel, LM
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (05) : 2724 - 2730
[2] GENETIC-HETEROGENEITY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN A GENETIC ISOLATE (AMISH) AND EVIDENCE FOR A NEW LOCUS
ALLAMAND, V
BROUX, O
BOURG, N
RICHARD, I
TISCHFIELD, JA
HODES, ME
CONNEALLY, PM
FARDEAU, M
JACKSON, CE
BECKMANN, JS
[J]. HUMAN MOLECULAR GENETICS, 1995, 4 (03) : 459 - 463
[3] CONGENITAL MUSCULAR-DYSTROPHIES
ARAHATA, K
ISHII, H
HAYASHI, YK
[J]. CURRENT OPINION IN NEUROLOGY, 1995, 8 (05) : 385 - 390
[4] BEGGS AH, 1991, AM J HUM GENET, V49, P54
[5] ASSOCIATION OF ACICULIN WITH DYSTROPHIN AND UTROPHIN
BELKIN, AM
BURRIDGE, K
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (11) : 6328 - 6337
[6] LINKAGE OF TUNISIAN AUTOSOMAL RECESSIVE DUCHENNE-LIKE MUSCULAR-DYSTROPHY TO THE PERICENTROMERIC REGION OF CHROMOSOME 13Q
BENOTHMANE, K
BENHAMIDA, M
PERICAKVANCE, MA
BENHAMIDA, C
BLEL, S
CARTER, SC
BOWCOCK, AM
PETRUKHIN, K
GILLIAM, TC
ROSES, AD
HENTATI, F
VANCE, JM
[J]. NATURE GENETICS, 1992, 2 (04) : 315 - 317
[7] Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein
Blake, DJ
Nawrotzki, R
Peters, MF
Froehner, SC
Davies, KE
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (13) : 7802 - 7810
[8] Genomic screening for beta-sarcoglycan gene mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)
Bonnemann, CG
PassosBueno, MR
McNally, EM
Vainzof, M
Moreira, ED
Marie, SK
Pavanello, RCM
Noguchi, S
Ozawa, E
Zatz, M
Kunkel, LM
[J]. HUMAN MOLECULAR GENETICS, 1996, 5 (12) : 1953 - 1961
[9] BETA-SARCOGLYCAN (A3B) MUTATIONS CAUSE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH LOSS OF THE SARCOGLYCAN COMPLEX
BONNEMANN, CG
MODI, R
NOGUCHI, S
MIZUNO, Y
YOSHIDA, M
GUSSONI, E
MCNALLY, EM
DUGGAN, DJ
ANGELINI, C
HOFFMAN, EP
OZAWA, E
KUNKEL, LM
[J]. NATURE GENETICS, 1995, 11 (03) : 266 - 273
[10] Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alpha 1-syntrophin mediated by PDZ domains
Brenman, JE
Chao, DS
Gee, SH
McGee, AW
Craven, SE
Santillano, DR
Wu, ZQ
Huang, F
Xia, HH
Peters, MF
Froehner, SC
Bredt, DS
[J]. CELL, 1996, 84 (05) : 757 - 767

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