Article
Disruption of GRIN2B Impairs Differentiation in Human Neurons.
Stem cell reports - 10 Jul 2018
Bell Scott, Maussion Gilles, Jefri Malvin, Peng Huashan, Theroux Jean-Francois, Silveira Heika, Soubannier Vincent, Wu Hanrong, Hu Peng, Galat Ekaterina, Torres-Platas S Gabriela, Boudreau-Pinsonneault Camille, O'Leary Liam A, Galat Vasiliy, Turecki Gustavo, Durcan Thomas M, Fon Edward A, Mechawar Naguib, Ernst Carl
Abstract excerpt
Heterozygous loss-of-function mutations in GRIN2B, a subunit of the NMDA receptor, cause intellectual disability and language impairment. We developed clonal models of GRIN2B deletion and loss-of-function mutations in a region coding for the glutamate binding domain in human cells and generated neurons from a patient harboring a missense mutation in the same domain. Transcriptome analysis revealed extensive...
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