Matches in SemOpenAlex for { <https://semopenalex.org/work/W1698361959> ?p ?o ?g. }
- W1698361959 abstract "This chapter discusses mechanisms and consequences of somatic mosaicism of expanded CAG·CTG repeats in humans and mice. Age dependent, tissue-specific, expansion-biased somatic mosaicism is a major feature of the CAG·CTG repeat disorders. The diseases associated with CAG·CTG repeat expansions include the neurodegenerative disorders in which a CAG repeat encodes a polyglutamine tract in the resultant protein: spinal and bulbar muscular atrophy (SBMA), Huntington disease (HD), dentatorubral pallidoluysian atrophy (DRPLA), Machado–Joseph disease (MJD), and the other spinocerebellar ataxias, types 1, 2, 7, and 17. There are two principal approaches to genotyping and measuring the degree of somatic mosaicism in CAG·CTG repeat disorders. First, traditional Southern blot hybridization of restriction-enzyme-digested genomic DNA; and second, methodologies based upon polymerase chain reaction (PCR) analysis. The role of somatic mosaicism in exacerbating the tissue specificity and progressive nature of the symptoms suggests that suppression of the rate of somatic expansion is also likely to be therapeutically beneficial. Moreover, in all disorders, even those in which somatic mosaicism may not be critical, reversion of the repeat tract to a length that falls below the disease threshold would be predicted to be curative." @default.
- W1698361959 created "2016-06-24" @default.
- W1698361959 creator A5039204991 @default.
- W1698361959 creator A5057071985 @default.
- W1698361959 date "2006-01-01" @default.
- W1698361959 modified "2023-09-24" @default.
- W1698361959 title "Somatic Mosaicism of Expanded CAG·CTG Repeats in Humans and Mice: Dynamics, Mechanisms, and Consequences" @default.
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