News tagged with dystrophin
Dystrophin
Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex. Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere.
The Dystrophin gene is the longest human gene known on DNA level, covering 2.4 megabases (0.08% of the human genome) at locus Xp21. However, it does not encode the longest protein known in humans, which is titin. The primary transcript measures about 2,400 kilobases and takes 16 hours to transcribe; the mature mRNA measures 14.0 kilobases. The 79 exons code for a protein of over 3500 amino acid residues.
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First targeted treatment success for Duchenne Muscular Dystrophy
(Medical Xpress) -- A team led by scientists at UCL, funded by the Medical Research Council (MRC) and AVI BioPharma, have made an important breakthrough in the development of a treatment for Duchenne Muscular ...
Jul 25, 2011 |
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'Skipping' drug marks step forward for muscular dystrophy
An experimental drug designed to fit a DNA patch in a flawed gene has cleared an important hurdle in tests on boys struck by a tragic muscle-wasting disease, a British study on Monday says.
Jul 25, 2011 |
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First clinical trial of gene therapy for muscular dystrophy lends insight into the disease
A clinical trial designed to replace the genetic defect causing the most common form of muscular dystrophy has uncovered an unexpected aspect of the disease. The trial, based on therapy designed by scientists at the University ...
Oct 06, 2010 |
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New therapy substitutes missing protein in those with muscular dystrophy
Researchers at the University of Minnesota Medical School have discovered a new therapy that shows potential to treat people with Duchenne muscular dystrophy, a fatal disease and the most common form of muscular dystrophy ...
May 26, 2009 |
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First treatment for muscular dystrophy in sight: Scientists successfully harness exon-skipping
Genetic researchers at Children's National Medical Center and the National Center of Neurology and Psychiatry in Tokyo published the results of the first successful application of "multiple exon-skipping" to curb the devastating ...
Medicine & Health / Neuroscience
Mar 16, 2009 |
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