Matches in SemOpenAlex for { <https://semopenalex.org/work/W3128380777> ?p ?o ?g. }
- W3128380777 endingPage "163" @default.
- W3128380777 startingPage "149" @default.
- W3128380777 abstract "Huntington’s disease (HD) is one of a large group of human disorders that are caused by expanded DNA repeats. These repeat expansion disorders can have repeat units of different size and sequence that can be located in any part of the gene and, while the pathological consequences of the expansion can differ widely, there is evidence to suggest that the underlying mutational mechanism may be similar. In the case of HD, the expanded repeat unit is a CAG trinucleotide located in exon 1 of the huntingtin (HTT) gene, resulting in an expanded polyglutamine tract in the huntingtin protein. Expansion results in neuronal cell death, particularly in the striatum. Emerging evidence suggests that somatic CAG expansion, specifically expansion occurring in the brain during the lifetime of an individual, contributes to an earlier disease onset and increased severity. In this review we will discuss mouse models of two non-CAG repeat expansion diseases, specifically the Fragile X-related disorders (FXDs) and Friedreich ataxia (FRDA). We will compare and contrast these models with mouse and patient-derived cell models of various other repeat expansion disorders and the relevance of these findings for somatic expansion in HD. We will also describe additional genetic factors and pathways that modify somatic expansion in the FXD mouse model for which no comparable data yet exists in HD mice or humans. These additional factors expand the potential druggable space for diseases like HD where somatic expansion is a significant contributor to disease impact." @default.
- W3128380777 created "2021-02-15" @default.
- W3128380777 creator A5010953658 @default.
- W3128380777 creator A5024170832 @default.
- W3128380777 creator A5043197316 @default.
- W3128380777 creator A5044824355 @default.
- W3128380777 creator A5049541999 @default.
- W3128380777 creator A5057509340 @default.
- W3128380777 creator A5062505896 @default.
- W3128380777 creator A5064526624 @default.
- W3128380777 date "2021-02-09" @default.
- W3128380777 modified "2023-09-27" @default.
- W3128380777 title "Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington’s Disease" @default.
- W3128380777 cites W1045959496 @default.
- W3128380777 cites W1522901791 @default.
- W3128380777 cites W1605349427 @default.
- W3128380777 cites W1893983977 @default.
- W3128380777 cites W1895398290 @default.
- W3128380777 cites W1964549838 @default.
- W3128380777 cites W1969558292 @default.
- W3128380777 cites W1971602039 @default.
- W3128380777 cites W1973055895 @default.
- W3128380777 cites W1974224833 @default.
- W3128380777 cites W1975477508 @default.
- W3128380777 cites W1977108937 @default.
- W3128380777 cites W1978740993 @default.
- W3128380777 cites W1980624807 @default.
- W3128380777 cites W1981946886 @default.
- W3128380777 cites W1982276380 @default.
- W3128380777 cites W1985173578 @default.
- W3128380777 cites W1985923029 @default.
- W3128380777 cites W1986594553 @default.
- W3128380777 cites W1992113775 @default.
- W3128380777 cites W1992187326 @default.
- W3128380777 cites W1993191686 @default.
- W3128380777 cites W1994285647 @default.
- W3128380777 cites W1995758127 @default.
- W3128380777 cites W1996425563 @default.
- W3128380777 cites W2001558290 @default.
- W3128380777 cites W2002748750 @default.
- W3128380777 cites W2005574523 @default.
- W3128380777 cites W2006764478 @default.
- W3128380777 cites W2013655874 @default.
- W3128380777 cites W2019832293 @default.
- W3128380777 cites W2020598859 @default.
- W3128380777 cites W2024908018 @default.
- W3128380777 cites W2025147350 @default.
- W3128380777 cites W2026802661 @default.
- W3128380777 cites W2027474410 @default.
- W3128380777 cites W2027970788 @default.
- W3128380777 cites W2028943546 @default.
- W3128380777 cites W2032385067 @default.
- W3128380777 cites W2035624998 @default.
- W3128380777 cites W2040151444 @default.
- W3128380777 cites W2040795152 @default.
- W3128380777 cites W2044375974 @default.
- W3128380777 cites W2047740563 @default.
- W3128380777 cites W2049755269 @default.
- W3128380777 cites W2052036700 @default.
- W3128380777 cites W2053985384 @default.
- W3128380777 cites W2057211837 @default.
- W3128380777 cites W2062682951 @default.
- W3128380777 cites W2063062862 @default.
- W3128380777 cites W2063358818 @default.
- W3128380777 cites W2063590374 @default.
- W3128380777 cites W2065888384 @default.
- W3128380777 cites W2074836283 @default.
- W3128380777 cites W2076592445 @default.
- W3128380777 cites W2080335349 @default.
- W3128380777 cites W2081433439 @default.
- W3128380777 cites W2082920621 @default.
- W3128380777 cites W2083209381 @default.
- W3128380777 cites W2085155163 @default.
- W3128380777 cites W2085585779 @default.
- W3128380777 cites W2086482792 @default.
- W3128380777 cites W2090700988 @default.
- W3128380777 cites W2091718095 @default.
- W3128380777 cites W2098675655 @default.
- W3128380777 cites W2100591042 @default.
- W3128380777 cites W2106057425 @default.
- W3128380777 cites W2106459641 @default.
- W3128380777 cites W2107416433 @default.
- W3128380777 cites W2107455041 @default.
- W3128380777 cites W2107981920 @default.
- W3128380777 cites W2113629413 @default.
- W3128380777 cites W2116865857 @default.
- W3128380777 cites W2116878076 @default.
- W3128380777 cites W2117000474 @default.
- W3128380777 cites W2119221568 @default.
- W3128380777 cites W2119588553 @default.
- W3128380777 cites W2120089138 @default.
- W3128380777 cites W2120143131 @default.
- W3128380777 cites W2124657176 @default.
- W3128380777 cites W2126456755 @default.
- W3128380777 cites W2126877059 @default.
- W3128380777 cites W2131173813 @default.
- W3128380777 cites W2134874120 @default.
- W3128380777 cites W2135764047 @default.