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; …

[HTML][HTML] The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction

DGS Wilson, A Tinker, T Iskratsch - Communications Biology, 2022 - nature.com
Dystrophin is the central protein of the dystrophin-glycoprotein complex (DGC) in skeletal
and heart muscle cells. Dystrophin connects the actin cytoskeleton to the extracellular matrix …

The sarcoplasmic reticulum Ca2+ channel/ryanodine receptor: modulation by endogenous effectors, drugs and disease states

R Zucchi, S Ronca-Testoni - Pharmacological reviews, 1997 - ASPET
The ryanodine receptor (RyR) c corresponds to the sarcoplasmic reticulum (SR) Ca2+
channel (Inui et al., 1987; Imagawa et al., 1987). Its structure and function have been …

Dystroglycan Is Essential for Early Embryonic Development: Disruption of Reichert's Membrane in Dag1-Null Mice

RA Williamson, MD Henry, KJ Daniels… - Human molecular …, 1997 - academic.oup.com
Dystroglycan is a central component of the dystrophin-glycoprotein complex (DGC), a
protein assembly that plays a critical role in a variety of muscular dystrophies. In order to …

Progressive muscular dystrophy in α-sarcoglycan–deficient mice

F Duclos, V Straub, SA Moore, DP Venzke… - The Journal of cell …, 1998 - rupress.org
Limb-girdle muscular dystrophy type 2D (LGMD 2D) is an autosomal recessive disorder
caused by mutations in the α-sarcoglycan gene. To determine how α-sarcoglycan deficiency …

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

LE Lim, F Duclos, O Broux, N Bourg, Y Sunada… - Nature …, 1995 - nature.com
Abstract β–sarcoglycan, a 43 kDa dystrophin–associated glycoprotein, is an integral
component of the dystrophin–glycoprotein complex. We have cloned human β–sarcoglycan …

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

SL Roberds, F Leturcq, V Allamand, F Piccolo… - Cell, 1994 - cell.com
Adhalin, the 50 kDa dystrophin-associated glycoprotein, is deficient In skeletal muscle of
patients having severe childhood autosomal recessive muscular dystrophy (SCARMD). In …

Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, δ-sarcoglycan, in hamster: an animal model of disrupted dystrophin …

A Sakamoto, K Ono, M Abe, G Jasmin… - Proceedings of the …, 1997 - National Acad Sciences
Cardiomyopathy (CM) is a primary degenerative disease of myocardium and is traditionally
categorized into hypertrophic and dilated CMs (HCM and DCM) according to its gross …

Dystroglycan inside and out

MD Henry, KP Campbell - Current opinion in cell biology, 1999 - Elsevier
Dystroglycan connects the extracellular matrix and cytoskeleton. Key findings in the past
year indicate that dystroglycan interacts with a wider repertoire of extracellular ligands than …

Dystroglycan: an extracellular matrix receptor linked to the cytoskeleton

MD Henry, KP Campbell - Current opinion in cell biology, 1996 - Elsevier
Dystroglycan provides a crucial linkage between the cytoskeleton and the basement
membrane for skeletal muscle cells. Disruption of this linkage leads to various forms of …