LITERATURE · PEER REVIEWED

ASH1L haploinsufficiency results in autistic-like phenotypes in mice and links Eph receptor gene to autism spectrum disorder

Neuron · 2022 · Peer reviewed

COMPLETE CITATION

Citation and identifiers

Yan Y, Tian M, Li M, et al.. “ASH1L haploinsufficiency results in autistic-like phenotypes in mice and links Eph receptor gene to autism spectrum disorder.” Neuron. 110(7):1156–1172.e9 · doi:10.1016/j.neuron.2021.12.035.

PubMed ID
35081333

RESEARCH QUESTION

Does Ash1l haploinsufficiency disrupt EphA7-dependent synaptic refinement in association with autism-like phenotypes in mice?

The mouse study connects Ash1l haploinsufficiency, developmental and behavioral phenotypes, and an EphA7-linked synaptic pathway without validating a human biomarker or treatment target.

INTERPRETATION BOUNDARY

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What this study supports

Connects Ash1l haploinsufficiency to developmental and behavioral phenotypes and implicates EphA7-dependent synaptic refinement in mice.

What it cannot establish

Model-supported pathway, not a validated human biomarker or treatment target.

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