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 …

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 …

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 …

The pathogenesis and therapy of muscular dystrophies

S Guiraud, A Aartsma-Rus, NM Vieira… - Annual review of …, 2015 - annualreviews.org
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 …

Molecular mechanisms of muscular dystrophies: old and new players

KE Davies, KJ Nowak - Nature reviews Molecular cell biology, 2006 - nature.com
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 …

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 …

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 …

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; …

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 …

[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 …