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• W2906750527 abstract "This chapter discusses RNA-mediated disease process in myotonic dystrophy (DM). DM is a dominantly inherited degenerative disease, which is caused by the expansion of unstable (CTG) n and (CCTG) n microsatellites in the noncoding regions of two unrelated genes. DM is the first example of an RNA-mediated disease. Mutant DMPK mRNAs are toxic because they accumulate in the nucleus and alter the activities of pre-mRNA alternative splicing factors during postnatal development. This targeted interference with the normal pathway of alternative splicing results in the retention of a distinct group of fetal exons in specific mRNAs during postnatal development. Alternatively, the activities of these splicing factors might be modulated by developmentally controlled interactions with other, yet unidentified, neuronal proteins and/or by specific posttranslational modifications, such as nuclear mRNA export, as well as cytoplasmic mRNA stability and translation. Ultimately, these mRNAs are translated into protein isoforms that are incompatible with the physiological demands of adult tissues." @default.
• W2906750527 created "2019-01-11" @default.
• W2906750527 creator A5013019099 @default.
• W2906750527 creator A5037948824 @default.
• W2906750527 creator A5050025082 @default.
• W2906750527 date "2006-01-01" @default.
• W2906750527 modified "2023-09-26" @default.
• W2906750527 title "The RNA-Mediated Disease Process in Myotonic Dystrophy" @default.
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