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...

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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/23d0c5b97fef4d90b66fccf00b3134ee
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spelling oai:doaj.org-article:23d0c5b97fef4d90b66fccf00b3134ee2021-12-02T19:10:44ZCortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder10.1038/s41467-021-24358-42041-1723https://doaj.org/article/23d0c5b97fef4d90b66fccf00b3134ee2021-09-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-24358-4https://doaj.org/toc/2041-1723Mutations 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.Job O. de JongCeyda LlapashticaMatthieu GenestineKevin StraussFrank ProvenzanoYan SunHuixiang ZhuGiuseppe P. CorteseFrancesco BrunduKarlla W. BrigattiBarbara CorneoBianca MiglioriRaju TomerSteven A. KushnerChristoph KellendonkJonathan A. JavitchBin XuSander MarkxNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
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
Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder
description 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.
format article
author 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
author_facet 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
author_sort Job O. de Jong
title Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder
title_short Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder
title_full Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder
title_fullStr Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder
title_full_unstemmed Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder
title_sort cortical overgrowth in a preclinical forebrain organoid model of cntnap2-associated autism spectrum disorder
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/23d0c5b97fef4d90b66fccf00b3134ee
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