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 …
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; …
in the gene encoding dystrophin. There is currently no effective treatment for the disease; …
Defective membrane repair in dysferlin-deficient muscular dystrophy
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 …
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 …
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 …
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 …
complex interconnected cytoskeletal networks critical for its contractile activity. The …
MG53 nucleates assembly of cell membrane repair machinery
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 …
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 …
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 …
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 …
muscular dystrophies that vary in terms of severity, age of onset, and selective involvement …