Cellular and molecular mechanisms underlying muscular dystrophy
F Rahimov, LM Kunkel - Journal of Cell Biology, 2013 - rupress.org
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by
progressive degeneration and weakness of skeletal muscle. Since the discovery of the first …
progressive degeneration and weakness of skeletal muscle. Since the discovery of the first …
Muscular dystrophies: genes to pathogenesis
I Dalkilic, LM Kunkel - Current opinion in genetics & development, 2003 - Elsevier
Muscular dystrophies are a genetically heterogeneous group of degenerative muscle
disorders. Nearly 30 genes are known to give rise to various forms of muscular dystrophy …
disorders. Nearly 30 genes are known to give rise to various forms of muscular dystrophy …
Molecular and cellular basis of genetically inherited skeletal muscle disorders
JJ Dowling, CC Weihl, MJ Spencer - Nature Reviews Molecular Cell …, 2021 - nature.com
Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …
The pathogenesis and therapy of muscular dystrophies
Current molecular genomic approaches to human genetic disorders have led to an
explosion in the identification of the genes and their encoded proteins responsible for these …
explosion in the identification of the genes and their encoded proteins responsible for these …
Molecular mechanisms of muscular dystrophies: old and new players
The study of the muscle cell in the muscular dystrophies (MDs) has shown that mutant
proteins result in perturbations of many cellular components. MDs have been associated …
proteins result in perturbations of many cellular components. MDs have been associated …
Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology
YW Chen, P Zhao, R Borup, EP Hoffman - The Journal of cell biology, 2000 - rupress.org
We used expression profiling to define the pathophysiological cascades involved in the
progression of two muscular dystrophies with known primary biochemical defects …
progression of two muscular dystrophies with known primary biochemical defects …
Wasting mechanisms in muscular dystrophy
J Shin, MM Tajrishi, Y Ogura, A Kumar - The international journal of …, 2013 - Elsevier
Muscular dystrophy is a group of more than 30 different clinical genetic disorders that are
characterized by progressive skeletal muscle wasting and degeneration. Primary deficiency …
characterized by progressive skeletal muscle wasting and degeneration. Primary deficiency …
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; …
in the gene encoding dystrophin. There is currently no effective treatment for the disease; …
Dissection of temporal gene expression signatures of affected and spared muscle groups in dystrophin-deficient ( mdx ) mice
JD Porter, AP Merriam, P Leahy, B Gong… - Human molecular …, 2003 - academic.oup.com
Although dystrophin mutations are the proximate cause of Duchenne muscular dystrophy
(DMD), interactions among heterogeneous downstream mechanisms may be key …
(DMD), interactions among heterogeneous downstream mechanisms may be key …
[PDF][PDF] Three muscular dystrophies: review loss of cytoskeleton-extracellular matrix linkage
KP Campbell - Cell, 1995 - Citeseer
Muscular dystrophies are a group of diseases that primarily affect skeletal muscle and are
characterized by progressive muscle wasting and weakness. Although these diseases have …
characterized by progressive muscle wasting and weakness. Although these diseases have …