Muscular Dystrophy

News Muscular Dystrophy

• Laminopathies: Key components in the disease mechanism identified

  Laminopathies are hereditary diseases that affect mainly the muscle tissue. These diseases include for example Emery-Dreifuss Muscular dystrophy, dilated cardiomyopathy, limb-girdle muscular dystrophy and Hutchison-Gilford progeria syndrome. The underlying defect in these diseases is mutation in the more

• New molecule heralds hope for muscular dystrophy treatment

  There's hope for patients with myotonic dystrophy. A new small molecule developed by researchers at the University of Illinois has been shown to break up the protein-RNA clusters that cause the disease in living human cells, an important first step toward developing a pharmaceutical treatment for th more

• Pushing the boundaries
  

  Researchers at Johns Hopkins have established a high-efficiency cell-cell fusion system, providing a new model to study how fusion works. The scientists showed that fusion between two cells is not equal and mutual as some assumed, but, rather, is initiated and driven by one of the fusion partners. T more

White papers Muscular Dystrophy

• siRNA Silencing of Lamin A and Quantification of the Knockdown Effect via qPCR
  

  Lamins are structural proteins which form a thin fibrous layer called the nuclear lamina. Currently, three types of lamins are known in mammalian cells: lamin A, B, and C. Lamins may be involved in DNA replication, chromatin organization, differentiation, nuclear structural support, nuclear envelope reassembly, and several other processes. Mutations of lamin A can cause muscular dystrophy, dilated cardiomyopathy, familiar partial lipodystrophy [3], and other disorders. For the detailed analysis of the different functions of this more than 70 kDa large protein, the expression should be blocked. more

• Efficient Transfection of Primary Human Skeletal Myoblasts Using FuGENE® HD Transfection Reagent
  

  Transfection of cells is one of the main techniques used to influence gene expression. Most primary cells and human skeletal myoblasts (SkMC) in particular are very difficult to transfect, whereas for cell lines such as C2C12, many suitable transfection reagents and protocols are available. Few publications report successful transfection of human primary myoblasts using non-viral systems [1,2,3]. These methods include cationic lipids such as phosphono­lipids, electroporation, and a combination of liposome and adenoviral associated proteins. But transfection efficiency is low and often is a compromise between toxicity of the reagents and transfection efficiency. more

Publications Muscular Dystrophy

• N-Glycolylneuraminic acid deficiency worsens cardiac and skeletal muscle pathophysiology in {alpha}-sarcoglycan-deficient mice

  Roughly 3 million years ago, an inactivating deletion occurred in CMAH, the human gene encoding CMP-Neu5Ac (cytidine-5'-monophospho-N-acetylneuraminic acid) hydroxylase (Chou HH, Takematsu H, Diaz S, Iber J, Nickerson E, Wright KL, Muchmore EA, Nelson DL, Warren ST, Varki A. 1998. A mutation in hum more

• Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling

  Lamins are intermediate filament proteins that assemble into a meshwork underneath the inner nuclear membrane, the nuclear lamina. Mutations in the LMNA gene, encoding lamins A and C, cause a variety of diseases collectively called laminopathies. The disease mechanism for these diverse conditions i more

• ANO5‐muscular dystrophy: clinical, pathological and molecular findings

  Background and purpose Anoctamin 5 (ANO5) is a putative intracellular calcium‐activated chloride channel. Recessive mutations in ANO5 cause primary skeletal muscle disorders (limb‐girdle muscular dystrophy 2L and distal muscular dystrophy), which are phenotypically similar to dysferlinopathy, a more

Market studies Muscular Dystrophy

• Musculoskeletal Disorders Therapeutics Market to 2017 - Osteoarthritis Market to Decline with Patent Expiry of Celebrex in 2014

  GBI Research, the leading business intelligence provider, has released its latest report, “Musculoskeletal Disorders Therapeutics Market to 2017 - Osteoarthritis Market to Decline with Patent Expiry of Celebrex in 2014”. The report is built using data and information sourced from proprietary databas more

• Muscular Dystrophy – Pipeline Review, H1 2012

  Introduction Global Markets Direct’s, 'Muscular Dystrophy - Pipeline Review, H1 2012', provides an overview of the Muscular Dystrophy therapeutic pipeline. This report provides information on the therapeutic development for Muscular Dystrophy, complete with latest updates, and special features on more

• Muscular Dystrophy - Pipeline Review, Q2 2011

  Introduction Global Markets Direct’s, 'Muscular Dystrophy - Pipeline Review, Q2 2011', provides an overview of the Muscular Dystrophy therapeutic pipeline. This report provides information on the therapeutic development for Muscular Dystrophy, complete with latest updates, and special features on l more

Websites Muscular Dystrophy