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A MYT1L Syndrome mouse model recapitulates patient phenotypes and reveals altered brain development due to disrupted neuronal maturation

2020-12-17

Abstract excerpt

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...

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Literature Corpus work
cfb5904c-e4f8-5b34-acbe-6b1160d3edbc
DOI
10.1101/2020.12.17.423095
Open publication

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A MYT1L Syndrome mouse model recapitulates patient phenotypes and reveals altered brain development due to disrupted neuronal maturationDOI 10.1101/2020.12.17.423095
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