[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 …

Dystrophin and muscular dystrophy: past, present, and future

KF O'Brien, LM Kunkel - Molecular genetics and metabolism, 2001 - Elsevier
Duchenne muscular dystrophy was described in the medical literature in the early 1850s but
the molecular basis of the disease was not determined until the late 1980s. The cloning of …

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; …

Dystrophin–glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies

K Matsumura, KP Campbell - … & Nerve: Official Journal of the …, 1994 - Wiley Online Library
Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, is
associated with a large oligomeric complex of sarcolemmal glycoproteins, including …

Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin.

K Matsumura, FM Tome, V Ionasescu… - The Journal of …, 1993 - Am Soc Clin Investig
Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, is a
cytoskeletal protein tightly associated with a large oligomeric complex of sarcolemmal …

[HTML][HTML] Dystrophin, its interactions with other proteins, and implications for muscular dystrophy

JM Ervasti - Biochimica et Biophysica Acta (BBA)-Molecular Basis …, 2007 - Elsevier
Duchenne muscular dystrophy is the most prevalent and severe form of human muscular
dystrophy. Investigations into the molecular basis for Duchenne muscular dystrophy were …

Forced expression of dystrophin deletion constructs reveals structure-function correlations.

JA Rafael, GA Cox, K Corrado, D Jung… - The Journal of cell …, 1996 - rupress.org
Dystrophin plays an important role in skeletal muscle by linking the cytoskeleton and the
extracellular matrix. The amino terminus of dystrophin binds to actin and possibly other …

Duchenne muscular dystrophy: deficiency of dystrophin‐associated proteins in the sarcolemma

K Ohlendieck, K Matsumura, VV Ionasescu, JA Towbin… - Neurology, 1993 - AAN Enterprises
Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, is a major
component of the subsarcolemmal cytoskeleton and exists in a large oligomeric complex …

The discovery of dystrophin, the protein product of the Duchenne muscular dystrophy gene

EP Hoffman - The FEBS journal, 2020 - Wiley Online Library
Duchenne muscular dystrophy was a well‐established medical and genetic enigma by the
1970s. Why was the new mutation rate so high in all world populations? Why were affected …

Muscular Dystrophies—Diseases of the Dystrophin-Glycoprotein Complex

R Worton - Science, 1995 - science.org
Defects in the gene for the muscle protein dystrophin cause many cases of muscular
dystrophy. Worton discusses three new papers, one in this issue of Science (Noguchi et al …