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- W4328130848 abstract "Abstract Background Individuals affected with autism often suffer additional co-morbidities such as intellectual disability. The genes contributing to autism cluster on a relatively limited number of cellular pathways, including chromatin remodeling. However, limited information is available on how mutations in single genes can result in such pleiotropic clinical features in affected individuals. In this review, we summarize available information on one of the most frequently mutated genes in syndromic autism the Activity-Dependent Neuroprotective Protein (ADNP). Results Heterozygous and predicted loss-of-function ADNP mutations in individuals inevitably result in the clinical presentation with the Helsmoortel–Van der Aa syndrome, a frequent form of syndromic autism. ADNP, a zinc finger DNA-binding protein has a role in chromatin remodeling: The protein is associated with the pericentromeric protein HP1, the SWI/SNF core complex protein BRG1, and other members of this chromatin remodeling complex and, in murine stem cells, with the chromodomain helicase CHD4 in a ChAHP complex. ADNP has recently been shown to possess R-loop processing activity. In addition, many additional functions, for instance, in association with cytoskeletal proteins have been linked to ADNP. Conclusions We here present an integrated evaluation of all current aspects of gene function and evaluate how abnormalities in chromatin remodeling might relate to the pleiotropic clinical presentation in individual“s” with Helsmoortel–Van der Aa syndrome." @default.
- W4328130848 created "2023-03-22" @default.
- W4328130848 creator A5006745559 @default.
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- W4328130848 creator A5084808085 @default.
- W4328130848 creator A5087706646 @default.
- W4328130848 date "2023-03-21" @default.
- W4328130848 modified "2023-10-15" @default.
- W4328130848 title "Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism" @default.
- W4328130848 cites W115282431 @default.
- W4328130848 cites W128425973 @default.
- W4328130848 cites W1519120609 @default.
- W4328130848 cites W1532742668 @default.
- W4328130848 cites W1606072825 @default.
- W4328130848 cites W1620750937 @default.
- W4328130848 cites W1787127084 @default.
- W4328130848 cites W1873397816 @default.
- W4328130848 cites W1951305893 @default.
- W4328130848 cites W1963757800 @default.
- W4328130848 cites W1967706132 @default.
- W4328130848 cites W1971353582 @default.
- W4328130848 cites W1971788124 @default.
- W4328130848 cites W1971967823 @default.
- W4328130848 cites W1972535578 @default.
- W4328130848 cites W1974353685 @default.
- W4328130848 cites W1979302187 @default.
- W4328130848 cites W1980826618 @default.
- W4328130848 cites W1981279835 @default.
- W4328130848 cites W1984249881 @default.
- W4328130848 cites W1986623751 @default.
- W4328130848 cites W1992444604 @default.
- W4328130848 cites W1996868531 @default.
- W4328130848 cites W2001381614 @default.
- W4328130848 cites W2001513801 @default.
- W4328130848 cites W2003847336 @default.
- W4328130848 cites W2005402647 @default.
- W4328130848 cites W2007824057 @default.
- W4328130848 cites W2011047520 @default.
- W4328130848 cites W2011142100 @default.
- W4328130848 cites W2011978143 @default.
- W4328130848 cites W2014761527 @default.
- W4328130848 cites W2016772796 @default.
- W4328130848 cites W2019016713 @default.
- W4328130848 cites W2026964173 @default.
- W4328130848 cites W2030430356 @default.
- W4328130848 cites W2031816743 @default.
- W4328130848 cites W2035055240 @default.
- W4328130848 cites W2039291773 @default.
- W4328130848 cites W2045981425 @default.
- W4328130848 cites W2051808699 @default.
- W4328130848 cites W2053752570 @default.
- W4328130848 cites W2054005034 @default.
- W4328130848 cites W2060602451 @default.
- W4328130848 cites W2061003477 @default.
- W4328130848 cites W2062931443 @default.
- W4328130848 cites W2064199931 @default.
- W4328130848 cites W2064332273 @default.
- W4328130848 cites W2064953045 @default.
- W4328130848 cites W2071071105 @default.
- W4328130848 cites W2072057029 @default.
- W4328130848 cites W2078178942 @default.
- W4328130848 cites W2078281194 @default.
- W4328130848 cites W2078990638 @default.
- W4328130848 cites W2080512822 @default.
- W4328130848 cites W2086557012 @default.
- W4328130848 cites W2089428712 @default.
- W4328130848 cites W2091463240 @default.
- W4328130848 cites W2091894475 @default.
- W4328130848 cites W2092367625 @default.
- W4328130848 cites W2096308078 @default.
- W4328130848 cites W2097496333 @default.
- W4328130848 cites W2106578635 @default.
- W4328130848 cites W2108994842 @default.
- W4328130848 cites W2111880238 @default.
- W4328130848 cites W2114112734 @default.
- W4328130848 cites W2117822509 @default.
- W4328130848 cites W2123773614 @default.
- W4328130848 cites W2124865989 @default.
- W4328130848 cites W2136172091 @default.
- W4328130848 cites W2140369755 @default.
- W4328130848 cites W2140424919 @default.
- W4328130848 cites W2153199196 @default.
- W4328130848 cites W2155634762 @default.
- W4328130848 cites W2156970346 @default.
- W4328130848 cites W2157704708 @default.
- W4328130848 cites W2168595448 @default.
- W4328130848 cites W2170984355 @default.
- W4328130848 cites W2188880192 @default.
- W4328130848 cites W2219356350 @default.
- W4328130848 cites W2254607792 @default.
- W4328130848 cites W2271547455 @default.
- W4328130848 cites W2274436947 @default.
- W4328130848 cites W2310931665 @default.