Human iPSC-Derived Neuronal Cells From CTBP1-Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks

Human iPSC-Derived Neuronal Cells From CTBP1-Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks

A recurrent de novo mutation in the transcriptional corepressor CTBP1 is associated with neurodevelopmental disabilities in children (Beck et al., 2016, 2019; Sommerville et al., 2017). All reported patients harbor a single recurrent de novo heterozygous missense mutation (p.R342W) within the cofact...

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Bibliographic Details
Main Authors: S. Vijayalingam, Uthayashanker R. Ezekiel, Fenglian Xu, T. Subramanian, Elizabeth Geerling, Brittany Hoelscher, KayKay San, Aravinda Ganapathy, Kyle Pemberton, Eric Tycksen, Amelia K. Pinto, James D. Brien, David B. Beck, Wendy K. Chung, Christina A. Gurnett, G. Chinnadurai
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-10-01
Series:Frontiers in Neuroscience
Subjects:
transcriptional repression
CtBP
de novo mutation
interferon response
intellectual and developmental disabilities
transcriptome analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2020.562292/full

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https://www.frontiersin.org/articles/10.3389/fnins.2020.562292/full

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