Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures

ASH1L haploinsufficiency is strongly linked to autism, despite the unknown mechanism. Here, the authors show that ASH1L deficiency in prefrontal cortex causes the downregulation of synaptic genes, leading to seizures, which is rescued by chemogenetic and pharmacological restoration of excitation/inh...

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Autores principales: Luye Qin, Jamal B. Williams, Tao Tan, Tiaotiao Liu, Qing Cao, Kaijie Ma, Zhen Yan
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/9cf490f4547141f4a572a7d190a6884a
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Sumario:ASH1L haploinsufficiency is strongly linked to autism, despite the unknown mechanism. Here, the authors show that ASH1L deficiency in prefrontal cortex causes the downregulation of synaptic genes, leading to seizures, which is rescued by chemogenetic and pharmacological restoration of excitation/inhibition balance.