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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Detalles Bibliográficos
Autores principales: Vijayalingam, S., Ezekiel, Uthayashanker R., Xu, Fenglian, Subramanian, T., Geerling, Elizabeth, Hoelscher, Brittany, San, KayKay, Ganapathy, Aravinda, Pemberton, Kyle, Tycksen, Eric, Pinto, Amelia K., Brien, James D., Beck, David B., Chung, Wendy K., Gurnett, Christina A., Chinnadurai, G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653094/
https://www.ncbi.nlm.nih.gov/pubmed/33192249
http://dx.doi.org/10.3389/fnins.2020.562292

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653094/
https://www.ncbi.nlm.nih.gov/pubmed/33192249
http://dx.doi.org/10.3389/fnins.2020.562292

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