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Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models

Durbeej-Hjalt, Madeleine LU and Campbell, Kevin P (2002) In Current Opinion in Genetics & Development 12(3). p.349-361
Abstract
The dystrophin-glycoprotein complex (DGC) is a multisubunit complex that connects the cytoskeleton of a muscle fiber to its surrounding extracellular matrix. Mutations in the DGC disrupt the complex and lead to muscular dystrophy. There are a few naturally occurring animal models of DGC-associated muscular dystrophy (e.g. the dystrophin-deficient mdx mouse, dystrophic golden retriever dog, HFMD cat and the delta-sarcoglycan-deficient BIO 14.6 cardiomyopathic hamster) that share common genetic protein abnormalities similar to those of the human disease. However, the naturally occurring animal models only partially resemble human disease. In addition, no naturally occurring mouse models associated with loss of other DGC components are... (More)
The dystrophin-glycoprotein complex (DGC) is a multisubunit complex that connects the cytoskeleton of a muscle fiber to its surrounding extracellular matrix. Mutations in the DGC disrupt the complex and lead to muscular dystrophy. There are a few naturally occurring animal models of DGC-associated muscular dystrophy (e.g. the dystrophin-deficient mdx mouse, dystrophic golden retriever dog, HFMD cat and the delta-sarcoglycan-deficient BIO 14.6 cardiomyopathic hamster) that share common genetic protein abnormalities similar to those of the human disease. However, the naturally occurring animal models only partially resemble human disease. In addition, no naturally occurring mouse models associated with loss of other DGC components are available. This has encouraged the generation of genetically engineered mouse models for DGC-linked muscular dystrophy. Not only have analyses of these mice led to a significant improvement in our understanding of the pathogenetic mechanisms for the development of muscular dystrophy, but they will also be immensely valuable tools for the development of novel therapeutic approaches for these incapacitating diseases. (Less)
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author
publishing date
type
Contribution to journal
publication status
published
subject
in
Current Opinion in Genetics & Development
volume
12
issue
3
pages
349 - 361
publisher
Elsevier
external identifiers
  • pmid:12076680
  • scopus:0036591684
ISSN
1879-0380
DOI
10.1016/S0959-437X(02)00309-X
language
English
LU publication?
no
id
d4b4e5b2-c39b-438c-94af-0a3cfd413ec4 (old id 1125380)
date added to LUP
2008-05-20 15:24:04
date last changed
2017-12-10 04:24:33
@article{d4b4e5b2-c39b-438c-94af-0a3cfd413ec4,
  abstract     = {The dystrophin-glycoprotein complex (DGC) is a multisubunit complex that connects the cytoskeleton of a muscle fiber to its surrounding extracellular matrix. Mutations in the DGC disrupt the complex and lead to muscular dystrophy. There are a few naturally occurring animal models of DGC-associated muscular dystrophy (e.g. the dystrophin-deficient mdx mouse, dystrophic golden retriever dog, HFMD cat and the delta-sarcoglycan-deficient BIO 14.6 cardiomyopathic hamster) that share common genetic protein abnormalities similar to those of the human disease. However, the naturally occurring animal models only partially resemble human disease. In addition, no naturally occurring mouse models associated with loss of other DGC components are available. This has encouraged the generation of genetically engineered mouse models for DGC-linked muscular dystrophy. Not only have analyses of these mice led to a significant improvement in our understanding of the pathogenetic mechanisms for the development of muscular dystrophy, but they will also be immensely valuable tools for the development of novel therapeutic approaches for these incapacitating diseases.},
  author       = {Durbeej-Hjalt, Madeleine and Campbell, Kevin P},
  issn         = {1879-0380},
  language     = {eng},
  number       = {3},
  pages        = {349--361},
  publisher    = {Elsevier},
  series       = {Current Opinion in Genetics & Development},
  title        = {Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models},
  url          = {http://dx.doi.org/10.1016/S0959-437X(02)00309-X},
  volume       = {12},
  year         = {2002},
}