Triple Repeat Diseases of the Nervous Systems [electronic resource]

  • Timchenko, Lubov T. editor.
  • 2002
Triple Repeat Diseases of the Nervous Systems [electronic resource]
  • Data Type
  • Title/Author
    Triple Repeat Diseases of the Nervous Systems[electronic resource] / edited by Lubov T. Timchenko.
  • Author
    Timchenko, Lubov T., editor.
  • Authors
    SpringerLink (Online service)
  • Phy Desc.
    X, 121 p. : online resource.
  • Total State.
    Advances in Experimental Medicine and Biology,0065-2598 ; 516
  • Contents Note
    1. Molecular Mechanisms of TRS Instability -- Secondary DNA Structures as a Source of TRS Instability -- Summary -- 2. Myotonic Dystrophy: Discussion of Molecular Basis -- DM1 Mutation is an Expansion of CTG Trinucleotide Repeats -- Mouse Models of Unstable DNA -- Molecular Pathogenesis of DM1 -- Deficiency of SIX5 in DM1 -- Alterations of RNA Metabolism in DM1 -- CUGBP1 Targets -- Other Members of CUGBP1 Family -- Conclusions -- 3. Spinocerebellar Ataxias Caused By Polyglutamine Expansions -- Polyglutamine Expansions as Major Mutations in ADCA -- Age at Onset -- Clinical Presentation in Patients -- Neuropathological Lesions -- Factors Influencing Clinical Variability -- Physiopathology of Spinocerebellar Ataxias Caused by Polyglutamine Expansions -- Conclusions -- Towards Therapy -- 4. Spinocerebellar Ataxia Type 10: A Disease Caused by a Large ATTCT Repeat Expansion -- Clinical Features -- Identification of the SCA10 Mutation -- Prospects of Research -- 5. The Molecular Basis of Friedreich Ataxia -- Gene Structure and Expression -- Point Mutations -- Frataxin Structure and Function -- Current Hypotheses for the Pathogenesis of Friedrich Ataxia -- Approaches for Treatment.
  • Topical Term
    Human genetics.
    Human Genetics.
    Tree Biology.
  • Host Item
    Springer eBooks
  • Additional Item
    Printed edition: 9781461349310
  • ISBN
  • Language