Absence of Dystrophin Disrupts Skeletal Muscle Signaling: Roles of Ca2+, Reactive Oxygen Species, and Nitric Oxide in the Development of Muscular Dystrophy

DG Allen, NP Whitehead… - Physiological …, 2016 - journals.physiology.org
Dystrophin is a long rod-shaped protein that connects the subsarcolemmal cytoskeleton to a
complex of proteins in the surface membrane (dystrophin protein complex, DPC), with further …

Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy

JW McGreevy, CH Hakim… - Disease models & …, 2015 - journals.biologists.com
Duchenne muscular dystrophy (DMD) is a progressive muscle-wasting disorder. It is caused
by loss-of-function mutations in the dystrophin gene. Currently, there is no cure. A highly …

Mechanical regulation of gene expression in cardiac myocytes and fibroblasts

JJ Saucerman, PM Tan, KS Buchholz… - Nature Reviews …, 2019 - nature.com
The intact heart undergoes complex and multiscale remodelling processes in response to
altered mechanical cues. Remodelling of the myocardium is regulated by a combination of …

Function and genetics of dystrophin and dystrophin-related proteins in muscle

DJ Blake, A Weir, SE Newey… - Physiological …, 2002 - journals.physiology.org
The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations
in the gene encoding dystrophin. There is currently no effective treatment for the disease; …

CLOCK and BMAL1 regulate MyoD and are necessary for maintenance of skeletal muscle phenotype and function

JL Andrews, X Zhang, JJ McCarthy… - Proceedings of the …, 2010 - National Acad Sciences
MyoD, a master regulator of myogenesis, exhibits a circadian rhythm in its mRNA and
protein levels, suggesting a possible role in the daily maintenance of muscle phenotype and …

Effect of genetic background on the dystrophic phenotype in mdx mice

WD Coley, L Bogdanik, MC Vila, Q Yu… - Human molecular …, 2016 - academic.oup.com
Genetic background significantly affects phenotype in multiple mouse models of human
diseases, including muscular dystrophy. This phenotypic variability is partly attributed to …

Histological parameters for the quantitative assessment of muscular dystrophy in the mdx-mouse

A Briguet, I Courdier-Fruh, M Foster, T Meier… - Neuromuscular …, 2004 - Elsevier
Duchenne muscular dystrophy is a severe X-linked hereditary disease caused by the
absence of functional dystrophin. The dystrophin-deficient mdx-mouse strain is a widely …

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse

QL Lu, CJ Mann, F Lou, G Bou-Gharios, GE Morris… - Nature medicine, 2003 - nature.com
As a target for gene therapy, Duchenne muscular dystrophy (DMD) presents many obstacles
but also an unparalleled prospect for correction by alternative splicing. The majority of …

Costameres: the Achilles' heel of Herculean muscle

JM Ervasti - Journal of Biological Chemistry, 2003 - ASBMB
Like the ancient Greek hero Hercules, striated muscle is famous for performing impressive
feats of strength. The procurement of food, breathing, and defense or escape from harm all …

[PDF][PDF] Dystrophin‐deficient mdx mice display a reduced life span and are susceptible to spontaneous rhabdomyosarcoma

JS Chamberlain, J Metzger, M Reyes, DW Townsend… - 2007 - deepblue.lib.umich.edu
Duchenne muscular dystrophy (DMD) is the most common, lethal genetic disorder of
children. A number of animal models of muscular dystrophy exist, but the most effective …