Article

Autism-associated <i>ASPM</i> variant causes macrocephaly and social-cognitive deficits in mice

2025-02-19

Abstract excerpt

<h4>ABSTRACT</h4> In autism spectrum disorder (ASD), a neurodevelopmental disorder with social-cognitive deficits, macrocephaly occurs in 20% of patients with severe symptoms. However, the role of macrocephaly in ASD pathogenesis remains unclear. Here, we address the mechanistic link between macrocephaly and ASD by investigating a novel ASD-associated gain-of-function A1877T mutation in ASPM ( abnormal spindle-...

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Literature Corpus work: fa1dfec3-7504-54c1-b766-b79e7291ad8f
DOI: 10.1101/2025.02.17.638753

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