Dystrophin-associated proteins and the muscular dystrophies

RH Brown Jr, DPhil, MD - Annual review of medicine, 1997 - annualreviews.org
▪ Abstract Discovery of the gene encoding the protein dystrophin delineated not only the
cause of Duchenne dystrophy but also an expanding family of at least eight different …

[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 …

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 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 …

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 …

The emerging family of dystrophin-related proteins

DJ Blake, JM Tinsley, KE Davies - Trends in cell biology, 1994 - Elsevier
Duchenne and Becker muscular dystrophies are caused by mutations in the gene encoding
dystrophin, a component of the subsarcolemmal cytoskeleton. Dystrophin-related proteins …

Glycoprotein‐binding site of dystrophin is confined to the cysteine‐rich domain and the first half of the carboxy‐terminal domain

A Suzuki, M Yoshida, H Yamamoto, E Ozawa - FEBS letters, 1992 - Wiley Online Library
Dystrophin, a protein product of the Duchenne muscular dystrophy gene, is thought to
associate with the muscle membrane by way of a glycoprotein complex which was co …

[图书][B] Dystrophin: gene, protein and cell biology

SC Brown, JA Lucy - 1997 - books.google.com
This book is concerned with advances in research on dystrophin, and how its absence gives
rise to muscular dystrophy. It is the first book to address relationships between the molecular …

Dystrophin and related proteins

JM Tinsley, DJ Blake, M Pearce, AE Knight… - Current opinion in …, 1993 - Elsevier
During the past year significant progress has been made in understanding how dystrophin
deficiency leads to muscle cell necrosis in Duchenne muscular dystrophy and Becker …

Functional roles of dystrophin and of associated proteins. New insights for the sarcoglycans

R Betto, D Biral, D Sandoná - The Italian Journal of Neurological Sciences, 1999 - Springer
The discovery of the dystrophin gene, whose mutations lead to Duchenne's and Becker's
muscular dystrophy (DMD and BMD), represents the first important landmark by which, in the …