Article

MEF2C hypofunction in neuronal and neuroimmune populations cooperate to produce MEF2C haploinsufficiency syndrome-like behaviors in mice

2019-10-30

Abstract excerpt

<h4>Summary</h4> Microdeletions of the MEF2C gene are linked to a syndromic form of autism termed MEF2C haploinsufficiency syndrome (MCHS). Here, we show that MCHS-associated missense mutations cluster in the conserved DNA binding domain and disrupt MEF2C DNA binding. DNA binding-deficient global Mef2c heterozygous mice ( Mef2c -Het) display numerous MCHS-like behaviors, including autism-related behaviors, as...

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Literature Corpus work: ae4931be-efcb-5690-98dd-ac0c1d328a98
DOI: 10.1101/824151

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