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Articles tagged with dystrophin

Dystrophin

What is Dystrophin?Dystrophin is a protein which binds to the muscle membrane cells and helps to maintain the muscle cell structure. It acts like a shock absorber for the muscle cells, and enable...

Tags: dystrophin, gene, protein, muscle, muscle cells, duchenne, muscular, dystrophy.

Utrophin

Found this interesting article but unfortunately at least 3 years to clinical rials.......http://www.physorg.com/news162569608.htmlNew therapy substitutes missing protein in those with muscular dy...

Tags: utrophin, duchenne, dystrophin, protein, muscle.

Dosing regiment

this is potentially important ...Dosing regimen has a significant impact on the efficiency of morpholino oligomer-induced exon skipping in mdx mice.http://www.ncbi.nlm.nih.gov/pubmed/194697091: Hu...

Tags: duchenne, dystrophin, dose, peptide, exon skipping, pmo, morpholino.

Dystrophin in the brain

Dystrophin is not only present in the muscle fibers but also in other organs like the brain and the retina of the eyes. The dystrophin in the muscle with a molecular weight of 420kd, kilodaltons ...

Tags: dystrophin, brain, isoforms, learning, behaviour.

Transfer of the dystrophin gene, with a viral vector

Adeno-associated virus (AAV) vector is a potential tool of gene therapy for treatment of genetic neuromuscular disorders. It is a non-pathogenic and replication-defective viral vector without any ...

Tags: gene transfer, dystrophin, AAv, viral vector.

Upregulation of utrophin to replace dystrophin.

Utrophin is a protein with a structure and function very similar to dystrophin. In humans, its gene is located on chromosome 6, has 75 exons, and is about one million base pairs long. Utrophin is ...

Tags: Dystrophin, utrophin, membrane.

Utrophin upregulation with biglycan.

During development, the protein biglycan is present at the outside of the skeletal and heart muscles and connects with its two ends the proteins alpha- and gamma-sarcoglycan, which are two compone...

Tags: Biglycan, dystrophin.

Causes of duchenne muscular dystrophy

Duchenne muscular dystrophy may be caused due to a inherited genetic disorder. The dystrophin gene lives on a chromosome called the X chromosome (like houses on a street, chromosomes= street and G...

Tags: chromosome, gene, genetics, dystrophin, inheritance.

Observations and diagnosis

In reality duchenne is usually diagnosed between the ages of two and seven years old, family members notices a child with duchenne when there are rather slow in developing skills such as walking, ...

Tags: genetic counselor, dystrophin, creatine kinase, muscle biopsy.

Treatment of Duchenne Muscular Dystrophy by Exon Skipping

PORTLAND, OR — January 21, 2009 — AVI BioPharma, Inc. (NASDAQ: AVII), a developer of RNA–based drugs, today announced results from a Phase 1 trial of its drug candidate AVI–465...

Tags: intramuscular IM injection, exonskipping, dystrophin.

Blood test to detect DMD

Researchers have developed a simple and affordable blood test that detects the most common form of muscular dystrophy (MD) in more than 95 percent of cases. Until now, gene mutations causing Duche...

Tags: Biopsy, Xchromosome, dystrophin, DMD mutations.

Exon Skipping - A review by Dr Karl Bettelheim

Article submitted by Dr Karl Bettelheim published on the 3rd of June 2009 IntroductionCurrently there are three major groups of treatment for Duchenne Muscular Dystrophy (DMD) e...

Tags: exon skipping, cellpenetrating peptide CPP, mRNA, antisenseoligonucleotides AOs, Dystrophin.

‘Fall Seven Times, Stand Up Eight’ - A review by Dr Karl Bettelheim

Article submitted by Dr Karl Bettelheim published on the 24th of June 2009 IntroductionWhile, I have always tried to bring good or hopeful or it least interesting developments, ...

Tags: dystrophin, Utrophin, myoblasts, X chromosome.

Systemic Exon 6/8 double skipping demosntrated in dystrophic dogs/human cells.

OBJECTIVE: Duchenne muscular dystrophy (DMD) is caused by the inability to produce dystrophin protein at the myofiber membrane. A method to rescue dystrophin production by antisense oligonucleotid...

Tags: exon skipping, dystrophin.

Microutrophin delivery through rAAV6 increases lifespan and improves muscle function in dystrophic dystrophin/utrophin-deficient mice

Duchenne muscular dystrophy (DMD), the most prevalent lethal genetic disorder in children, is caused by mutations in the 2.2-MB dystrophin gene. Absence of dystrophin and the dystrophin–glyco...

Tags: Microutrophin, gene therapy, dystrophin.

Heregulin ameliorates the dystrophic phenotype in mdx mice with utrophin upregulation.

Duchenne’s muscular dystrophy (DMD) is a fatal neuromuscular disease caused by absence of dystrophin. Utrophin is a chromosome 6-encoded dystrophin-related protein (DRP), sharing functional ...

Tags: Utrophin UpregulationHDAC Inhibition, utrophin, dystrophin, muscles.

Antioxidant Green tea extract decreases muscle necrosis in mdx mice and protects against reactive oxygen species.

Background: Duchenne muscular dystrophy is a severe X-linked congenital disorder characterized by lethal muscle wasting caused by the absence of the structural protein dystrophin. Objective: Becau...

Tags: Green tea, muscular dystrophy, reactive oxygen species, antioxidant, prevention, muscle necrosis, mdx mice, dystrophin, Xlinked congenital disease.

Dystrophin immunity in duchenne muscular dystrophy

we report on delivery of a functional dystrophin transgene to skeletal muscule in six patients with duchenne muscular dystrophy. Dystrophin-specfic T-cellswere detected after treatment, providing ...

Tags: T cells, dystrophin.

Slidenafill reverses cardiac dysfunction in the mdx mouse of duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a progressive and fatal genetic disorder of muscle degeneration. Patients with DMD lack expression of the protein dystrophin as a result of mutuations in the X...

Tags: slidenefil cirateviagra, dystrophin, PDE5, heart.

Phsiological charaterization of muscle strength with variable levels of dystrophin restoration in mdx mice following local antisense therapy

Department of cellular and molecular neuroscience, division of neuroscience and mental health, faculty of medicine, imperial college London, Hammersmith hospital campus.Antisense-induced exon skip...

Tags: exon skipping, phophorodiamiate morpholino oligomer PMO, Strength, dystrophin.

Glial dystrophin-associated proteins, laminin and agrin, are downregulated in the brain of mdx mice

Department of human anatomy and histology, University of Bari medical school, Bari ItalyIn this study, we investigated the involvement of dystrophin-associated protein(DAPs) and their relationship...

Tags: mRNA, protein, dystrophin.

An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in duchenne-like muscular dystrophy in the corgi breed

Duchenne muscular dystrophy (DMD) is a dystrophin-deficient lethal muscle disease. To date, the catastrophic muscle wasting phenotype has only been seen in dystrophin-deficient human and dogs. Alt...

Tags: dystrophin, Duchenne muscular dystrophy, DMD.

Biglycan recruits utrophin to the sarcolemma and counters dystrophic pathology in mdx mice

Abstr : Duchenne muscular dystrophy (DMD) is caused by mutations in dystrophin and the subsequent disruption of the dystrophin-associated protein complex (DAPC). Utrophin is a dystrophin homolog ...

Tags: dystrophin, utrophin, therapy.

Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy.

Mutations in the dystrophin gene have long been recognised as a cause of mental retardation. However, for reasons that are unclear, some boys with dystrophin mutations do not show general cognitiv...

Tags: Mutations, dystrophin, isoform, cognitive deficits.

Duchenne muscular dystrophy - What causes the increased membrane permeability in skeletal muscle?

Duchenne muscular dystrophy is a severe muscle wasting disease caused by a mutation in the gene for dystrophin – a cytoskeletal protein connecting the contractile machinery to a group of pro...

Tags: dystrophin, muscle weakness, enzymes.

Update on the Therapeutic approaches to muscular dystrophy

This is a summary of the article written by Aurelie Goyenvalle, Jane T Seto, Kay E Davies and Jeffrey Chamberlain, which was published by Oxford University Press on 5 April 2011.The article is a r...

Tags: exon skipping, gene therapy, Viral Vector, Dystrophin, rAAV, Antisense Oligonucleotide, PMO, PPMO, Duchenne, muscular dystrophy, Utrophin.