利用基于诱导多能干细胞的模型来理解特发性自闭症和16p11.2衍生神经元中的信号传导及细胞表型。

Using iPSC-Based Models to Understand the Signaling and Cellular Phenotypes in Idiopathic Autism and 16p11.2 Derived Neurons.

作者信息

Turkalj Luka, Mehta Monal, Matteson Paul, Prem Smrithi, Williams Madeline, Connacher Robert J, DiCicco-Bloom Emanuel, Millonig James H

机构信息

Graduate Program in Neuroscience, Rutgers University, Piscataway, NJ, USA.

Center for Advanced Biotechnology and Medicine, Rutgers University, Piscataway, NJ, USA.

出版信息

Adv Neurobiol. 2020;25:79-107. doi: 10.1007/978-3-030-45493-7_4.

DOI:10.1007/978-3-030-45493-7_4

PMID:32578145

Abstract

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is remarkably heterogeneous at the clinical, neurobiological, and genetic levels. ASD can also affect language, a uniquely human capability, and is caused by abnormalities in brain development. Traditionally obtaining biologically relevant human cells to study ASD has been extremely difficult, but new technologies including iPSC-derived neurons and high-throughput omic techniques now provide new, exciting tools to uncover the cellular and signaling basis of ASD etiology.

摘要

自闭症谱系障碍（ASD）是一种神经发育障碍，在临床、神经生物学和基因水平上具有显著的异质性。ASD还会影响语言这一人类独有的能力，它由大脑发育异常引起。传统上，获取与生物学相关的人类细胞来研究ASD极其困难，但包括诱导多能干细胞衍生神经元和高通量组学技术在内的新技术，现在为揭示ASD病因的细胞和信号基础提供了令人兴奋的新工具。