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Updated: Jul 4, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Published on: June 15, 2011

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与神经发育障碍相关的synaptotagmin-1中的一个de novo误解突变使神经递质释放脱同步

Maaike A van Boven1, Marta Mestroni1, Petra J G Zwijnenburg2

  • 1Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit (VU) Amsterdam, 1081 HV, Amsterdam, The Netherlands.

Molecular psychiatry
|February 6, 2024
PubMed
概括

在Synaptotagmin-1 (Syt1) 中的一种新型突变破坏了神经递质的释放,导致发育延迟和自闭症症状. 这种Syt1突变会损害同步释放,增加自发和异步释放,并导致神经元发生变化.

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