Advances in Experimental Medicine and Biology,0065-2598 ; 516
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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.
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