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• W4293661024 abstract "Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X syndrome (FXS) are primary examples of fragile X-related disorders (FXDs) caused by abnormal expansion of CGG repeats above a certain threshold in the 5′-untranslated region of the fragile X mental retardation (FMR1) gene. Both diseases have distinct clinical manifestations and molecular pathogenesis. FXTAS is a late-adult-onset neurodegenerative disorder caused by a premutation (PM) allele (CGG expansion of 55–200 repeats), resulting in FMR1 gene hyperexpression. On the other hand, FXS is a neurodevelopmental disorder that results from a full mutation (FM) allele (CGG expansions of ≥200 repeats) leading to heterochromatization and transcriptional silencing of the FMR1 gene. The main challenge is to determine how CGG repeat expansion affects the fundamentally distinct nature of FMR1 expression in FM and PM ranges. Abnormal CGG repeat expansions form a variety of non-canonical DNA and RNA structures that can disrupt various cellular processes and cause distinct effects in PM and FM alleles. Here, we review these structures and how they are related to underlying mutations and disease pathology in FXS and FXTAS. Finally, as new CGG expansions within the genome have been identified, it will be interesting to determine their implications in disease pathology and treatment." @default.
• W4293661024 created "2022-08-31" @default.
• W4293661024 creator A5037121187 @default.
• W4293661024 creator A5063504443 @default.
• W4293661024 creator A5081361820 @default.
• W4293661024 date "2022-08-30" @default.
• W4293661024 modified "2023-09-26" @default.
• W4293661024 title "Non-canonical DNA/RNA structures associated with the pathogenesis of Fragile X-associated tremor/ataxia syndrome and Fragile X syndrome" @default.
• W4293661024 cites W1558348929 @default.
• W4293661024 cites W1563190775 @default.
• W4293661024 cites W1965975446 @default.
• W4293661024 cites W1967489111 @default.
• W4293661024 cites W1968421165 @default.
• W4293661024 cites W1969558292 @default.
• W4293661024 cites W1975993845 @default.
• W4293661024 cites W1980083127 @default.
• W4293661024 cites W1983289953 @default.
• W4293661024 cites W1985501728 @default.
• W4293661024 cites W1986405704 @default.
• W4293661024 cites W1986520928 @default.
• W4293661024 cites W1987286446 @default.
• W4293661024 cites W1987453501 @default.
• W4293661024 cites W1989365498 @default.
• W4293661024 cites W1991070590 @default.
• W4293661024 cites W1991342096 @default.
• W4293661024 cites W1996128764 @default.
• W4293661024 cites W1996425563 @default.
• W4293661024 cites W1999617545 @default.
• W4293661024 cites W2000373218 @default.
• W4293661024 cites W2005078842 @default.
• W4293661024 cites W2006057892 @default.
• W4293661024 cites W2008575045 @default.
• W4293661024 cites W2012974517 @default.
• W4293661024 cites W2020598859 @default.
• W4293661024 cites W2025133427 @default.
• W4293661024 cites W2025551794 @default.
• W4293661024 cites W2037606715 @default.
• W4293661024 cites W2040151444 @default.
• W4293661024 cites W2043710805 @default.
• W4293661024 cites W2050703831 @default.
• W4293661024 cites W2051013729 @default.
• W4293661024 cites W2052442164 @default.
• W4293661024 cites W2054168167 @default.
• W4293661024 cites W2055854310 @default.
• W4293661024 cites W2065502277 @default.
• W4293661024 cites W2067092315 @default.
• W4293661024 cites W2069992405 @default.
• W4293661024 cites W2074172901 @default.
• W4293661024 cites W2078074828 @default.
• W4293661024 cites W2078477757 @default.
• W4293661024 cites W2078717408 @default.
• W4293661024 cites W2079259807 @default.
• W4293661024 cites W2082738516 @default.
• W4293661024 cites W2085155163 @default.
• W4293661024 cites W2085209572 @default.
• W4293661024 cites W2089579982 @default.
• W4293661024 cites W2091657096 @default.
• W4293661024 cites W2093443640 @default.
• W4293661024 cites W2099899772 @default.
• W4293661024 cites W2099934271 @default.
• W4293661024 cites W2101692941 @default.
• W4293661024 cites W2101760735 @default.
• W4293661024 cites W2112483783 @default.
• W4293661024 cites W2113501697 @default.
• W4293661024 cites W2119765524 @default.
• W4293661024 cites W2121082106 @default.
• W4293661024 cites W2123973342 @default.
• W4293661024 cites W2124286401 @default.
• W4293661024 cites W2125159715 @default.
• W4293661024 cites W2127553600 @default.
• W4293661024 cites W2127586082 @default.
• W4293661024 cites W2128234733 @default.
• W4293661024 cites W2140043547 @default.
• W4293661024 cites W2141650732 @default.
• W4293661024 cites W2143842223 @default.
• W4293661024 cites W2144969895 @default.
• W4293661024 cites W2145626860 @default.
• W4293661024 cites W2147233024 @default.
• W4293661024 cites W2147493022 @default.
• W4293661024 cites W2149919973 @default.
• W4293661024 cites W2151639461 @default.
• W4293661024 cites W2153968571 @default.
• W4293661024 cites W2162947452 @default.
• W4293661024 cites W2164028542 @default.
• W4293661024 cites W2166070939 @default.
• W4293661024 cites W2169013122 @default.
• W4293661024 cites W2169464106 @default.
• W4293661024 cites W2176639363 @default.
• W4293661024 cites W2267529971 @default.
• W4293661024 cites W2319517406 @default.
• W4293661024 cites W2322093705 @default.
• W4293661024 cites W2322289673 @default.
• W4293661024 cites W2462102436 @default.
• W4293661024 cites W2482376058 @default.
• W4293661024 cites W2568319997 @default.
• W4293661024 cites W2605596726 @default.
• W4293661024 cites W2606661870 @default.
• W4293661024 cites W2624935012 @default.
• W4293661024 cites W2730080362 @default.
• W4293661024 cites W2746109974 @default.

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