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- W3113269196 abstract "Abstract Human genetics have defined a new autism-associated syndrome caused by loss-of-function mutations in MYT1L , a transcription factor known for enabling fibroblast-to-neuron conversions. However, how MYT1L mutation causes autism, ADHD, intellectual disability, obesity, and brain anomalies is unknown. Here, we develop a mouse model of this syndrome. Physically, Myt1l haploinsufficiency causes obesity, white-matter thinning, and microcephaly in the mice, mimicking clinical phenotypes. During brain development we discovered disrupted gene expression, mediated in part by loss of Myt1l gene target activation, and identified precocious neuronal differentiation as the mechanism for microcephaly. In contrast, in adults we discovered that mutation results in failure of transcriptional and chromatin maturation, echoed in disruptions in baseline physiological properties of neurons. This results in behavioral anomalies including hyperactivity, muscle weakness and fatigue, and social alterations with more severe phenotypes in males. Overall, our findings provide insight into the mechanistic underpinnings of this disorder and enable future preclinical studies." @default.
- W3113269196 created "2020-12-21" @default.
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- W3113269196 date "2020-12-17" @default.
- W3113269196 modified "2023-09-23" @default.
- W3113269196 title "A MYT1L Syndrome mouse model recapitulates patient phenotypes and reveals altered brain development due to disrupted neuronal maturation" @default.
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- W3113269196 cites W1613369435 @default.
- W3113269196 cites W1620979336 @default.
- W3113269196 cites W1821853514 @default.
- W3113269196 cites W1965797321 @default.
- W3113269196 cites W2012404665 @default.
- W3113269196 cites W2013043813 @default.
- W3113269196 cites W2014677321 @default.
- W3113269196 cites W2022689242 @default.
- W3113269196 cites W2029150726 @default.
- W3113269196 cites W2031495178 @default.
- W3113269196 cites W2033026851 @default.
- W3113269196 cites W2036029991 @default.
- W3113269196 cites W2039521726 @default.
- W3113269196 cites W2045949302 @default.
- W3113269196 cites W2051869496 @default.
- W3113269196 cites W2077136893 @default.
- W3113269196 cites W2084761689 @default.
- W3113269196 cites W2085071900 @default.
- W3113269196 cites W2087405881 @default.
- W3113269196 cites W2091028497 @default.
- W3113269196 cites W2091811407 @default.
- W3113269196 cites W2095546080 @default.
- W3113269196 cites W2108994842 @default.
- W3113269196 cites W2114104545 @default.
- W3113269196 cites W2115558586 @default.
- W3113269196 cites W2120966119 @default.
- W3113269196 cites W2122771421 @default.
- W3113269196 cites W2127311839 @default.
- W3113269196 cites W2130410032 @default.
- W3113269196 cites W2131271579 @default.
- W3113269196 cites W2134526812 @default.
- W3113269196 cites W2136541538 @default.
- W3113269196 cites W2149627698 @default.
- W3113269196 cites W2150335686 @default.
- W3113269196 cites W2158463114 @default.
- W3113269196 cites W2161508377 @default.
- W3113269196 cites W2161537647 @default.
- W3113269196 cites W2169944034 @default.
- W3113269196 cites W2170159961 @default.
- W3113269196 cites W2171808845 @default.
- W3113269196 cites W2259032664 @default.
- W3113269196 cites W2508602832 @default.
- W3113269196 cites W2527337535 @default.
- W3113269196 cites W2546492508 @default.
- W3113269196 cites W2588146457 @default.
- W3113269196 cites W2604658068 @default.
- W3113269196 cites W2606095703 @default.
- W3113269196 cites W2624475221 @default.
- W3113269196 cites W2687519416 @default.
- W3113269196 cites W2747718000 @default.
- W3113269196 cites W2752619594 @default.
- W3113269196 cites W2781977790 @default.
- W3113269196 cites W2791171014 @default.
- W3113269196 cites W2793262738 @default.
- W3113269196 cites W2810253066 @default.
- W3113269196 cites W2883750070 @default.
- W3113269196 cites W2887114371 @default.
- W3113269196 cites W2897515450 @default.
- W3113269196 cites W2900156386 @default.
- W3113269196 cites W2920506381 @default.
- W3113269196 cites W2922759833 @default.
- W3113269196 cites W2932963800 @default.
- W3113269196 cites W2951261511 @default.
- W3113269196 cites W2972633305 @default.
- W3113269196 cites W2973429381 @default.
- W3113269196 cites W3006685858 @default.
- W3113269196 cites W3009606620 @default.
- W3113269196 cites W3014311564 @default.
- W3113269196 cites W3016385000 @default.
- W3113269196 cites W3016904080 @default.
- W3113269196 cites W3104522053 @default.
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- W3113269196 doi "https://doi.org/10.1101/2020.12.17.423095" @default.
- W3113269196 hasPublicationYear "2020" @default.
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