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; …

Defective membrane repair in dysferlin-deficient muscular dystrophy

D Bansal, K Miyake, SS Vogel, S Groh, CC Chen… - Nature, 2003 - nature.com
Muscular dystrophy includes a diverse group of inherited muscle diseases characterized by
wasting and weakness of skeletal muscle. Mutations in dysferlin are linked to two clinically …

ErbB2 is essential in the prevention of dilated cardiomyopathy

SA Crone, YY Zhao, L Fan, Y Gu, S Minamisawa… - Nature medicine, 2002 - nature.com
Amplification of the gene encoding the ErbB2 (Her2/neu) receptor tyrosine kinase is critical
for the progression of several forms of breast cancer. In a large-scale clinical trial, treatment …

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 …

Striated muscle cytoarchitecture: an intricate web of form and function

KA Clark, AS McElhinny, MC Beckerle… - Annual review of cell …, 2002 - annualreviews.org
▪ Abstract Striated muscle is an intricate, efficient, and precise machine that contains
complex interconnected cytoskeletal networks critical for its contractile activity. The …

MG53 nucleates assembly of cell membrane repair machinery

C Cai, H Masumiya, N Weisleder, N Matsuda, M Nishi… - Biophysical …, 2009 - cell.com
Dynamic membrane repair is essential not only for long-term maintenance of cellular
integrity but also for recovery from acute cell injury. While compromised membrane repair …

Molecular basis of muscular dystrophies

RD Cohn, KP Campbell - Muscle & nerve, 2000 - Wiley Online Library
Muscular dystrophies represent a heterogeneous group of disorders, which have been
largely classified by clinical phenotype. In the last 10 years, identification of novel skeletal …

The failing heart

JA Towbin, NE Bowles - Nature, 2002 - nature.com
Cardiomyopathies are disorders affecting heart muscle that usually result in inadequate
pumping of the heart. They are the most common cause of heart failure and each year kill …

The dystrophin–glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies

TA Rando - Muscle & nerve, 2001 - Wiley Online Library
Mutations of different components of the dystrophin–glycoprotein complex (DGC) cause
muscular dystrophies that vary in terms of severity, age of onset, and selective involvement …