Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder

Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder

Mutations in CNTNAP2 have been associated with a syndromic form of Autism Spectrum Disorder. Here the authors show that forebrain organoids generated from induced pluripotent stem cells of patients with a syndromic form of ASD with a homozygous truncating mutation in CNTNAP2 displayed an increase in...

Full description

Saved in:
Bibliographic Details
Main Authors: Job O. de Jong, Ceyda Llapashtica, Matthieu Genestine, Kevin Strauss, Frank Provenzano, Yan Sun, Huixiang Zhu, Giuseppe P. Cortese, Francesco Brundu, Karlla W. Brigatti, Barbara Corneo, Bianca Migliori, Raju Tomer, Steven A. Kushner, Christoph Kellendonk, Jonathan A. Javitch, Bin Xu, Sander Markx
Format: article
Language:EN
Published: Nature Portfolio 2021
Subjects:
Science
Q
Online Access:https://doaj.org/article/23d0c5b97fef4d90b66fccf00b3134ee
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Mutations in CNTNAP2 have been associated with a syndromic form of Autism Spectrum Disorder. Here the authors show that forebrain organoids generated from induced pluripotent stem cells of patients with a syndromic form of ASD with a homozygous truncating mutation in CNTNAP2 displayed an increase in volume and total cell number, which is driven by abnormal cellular proliferation and neurogenesis.

Similar Items