ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function

• Published in: Frontiers in Molecular Neuroscience Vol. 15; p. 988993
• Main Authors: Schuster, Jens, Klar, Joakim, Khalfallah, Ayda, Laan, Loora, Hoeber, Jan, Fatima, Ambrin, Sequeira, Velin Marita, Jin, Zhe, Korol, Sergiy V., Huss, Mikael, Nordgren, Ann, Anderlid, Britt Marie, Gallant, Caroline, Birnir, Bryndis, Dahl, Niklas
• Format: Journal Article
• Language: English
• Published: Lausanne Frontiers Media SA 24.10.2022; Frontiers Research Foundation; Frontiers Media S.A
• Subjects: Age; Cell cycle; Cell differentiation; Cell fate; Convulsions & seizures; electrophysiology; Epilepsy; Excitability; Forebrain; FOXG1; Foxg1 protein; GABAergic interneurons; Gene regulation; Genes; Hippocampus; Intellectual disabilities; Interneurons; Mowat-Wilson syndrome; Neural stem cells; Neurodegeneration; neurodevelopmental disease; Neurodevelopmental disorders; Neuropathogenesis; Neuroscience; Neurosciences; Neurosciences. Biological psychiatry. Neuropsychiatry; Neurovetenskaper; Pattern formation; Pluripotency; RC321-571; Seizures; Siblings; Stem cell transplantation; Stem cells; Telencephalon; Transcription factors; transcriptional network; ZEB2; γ-Aminobutyric acid; Canada; United States > US; Sweden

Mowat-Wilson syndrome (MWS) is a severe neurodevelopmental disorder caused by heterozygous variants in the gene encoding transcription factor ZEB2 . Affected individuals present with structural brain abnormalities, speech delay and epilepsy. In mice, conditional loss of Zeb2 causes hippocampal degen...