Special Issue "Myotonic Dystrophy: From Molecular Pathogenesis to Therapeutics"
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: 31 July 2020.
Interests: genetic diseases with unstable expansions; RNA-binding proteins; molecular biology and biochemistry
Myotonic dystrophies (DM) type 1 and type 2 are complex genetic diseases affecting many tissues, including the skeletal muscle, heart and brain. DM1 and DM2 are caused by unstable expansions of CTG (DM1) and CCTG (DM2) repeats. Both diseases do not have a cure. The molecular studies of DM identified the major mechanisms for these disorders, associated with the toxic effects of the mutant RNAs, containing long CUG and CCUG repeats. However, the mutant RNAs in DM1 and DM2 might affect additional intracellular pathways, increasing the complexity of molecular pathogenesis. This Special Issue will summarize findings describing the molecular mechanisms of DM1 and DM2 and will discuss how these advances can be used for the development of the clinical studies in DM1 and DM2.
Prof. Lubov Timchenko
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