[HTML][HTML] The Dystrophin Complex: structure, function and implications for therapy

Q Gao, EM McNally - Comprehensive Physiology, 2015 - ncbi.nlm.nih.gov
The dystrophin complex stabilizes the plasma membrane of striated muscle cells. Loss of
function mutations in the genes encoding dystrophin, or the associated proteins, triggers …

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 muscular dystrophies

AEH Emery - The Lancet, 2002 - thelancet.com
The muscular dystrophies are inherited myogenic disorders characterised by progressive
muscle wasting and weakness of variable distribution and severity. They can be subdivided …

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; …

The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma

KA Lapidos, R Kakkar, EM McNally - Circulation research, 2004 - Am Heart Assoc
The dystrophin glycoprotein complex (DGC) is a specialization of cardiac and skeletal
muscle membrane. This large multicomponent complex has both mechanical stabilizing and …

[HTML][HTML] Depletion of skeletal muscle satellite cells attenuates pathology in muscular dystrophy

JG Boyer, J Huo, S Han, JR Havens, V Prasad… - Nature …, 2022 - nature.com
Skeletal muscle can repair and regenerate due to resident stem cells known as satellite
cells. The muscular dystrophies are progressive muscle wasting diseases underscored by …

Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy

DP Millay, MA Sargent, H Osinska, CP Baines… - Nature medicine, 2008 - nature.com
Muscular dystrophies comprise a diverse group of genetic disorders that lead to muscle
wasting and, in many instances, premature death. Many mutations that cause muscular …

Adhesion receptors of vascular smooth muscle cells and their functions

EP Moiseeva - Cardiovascular research, 2001 - academic.oup.com
Vascular smooth muscle cells (SMCs) are present in several phenotypic states in blood
vessels. They show a high degree of plasticity, undergoing rapid and reversible phenotypic …

ANT-dependent MPTP underlies necrotic myofiber death in muscular dystrophy

MJ Bround, JR Havens, AJ York, MA Sargent… - Science …, 2023 - science.org
Mitochondrial permeability transition pore (MPTP) formation contributes to ischemia-
reperfusion injury in the heart and several degenerative diseases, including muscular …

[HTML][HTML] Mitigation of muscular dystrophy in mice by SERCA overexpression in skeletal muscle

SA Goonasekera, CK Lam, DP Millay… - The Journal of …, 2011 - Am Soc Clin Investig
Muscular dystrophies (MDs) comprise a group of degenerative muscle disorders
characterized by progressive muscle wasting and often premature death. The primary defect …