Opening book details…
Can I read Rescue of Neuropsychiatric Phenotypes in a Mouse Model of 16P11.2 Duplication Syndrome by Genetic Correction of an Epilepsy Network Hub on EtoBox?
Rescue of Neuropsychiatric Phenotypes in a Mouse Model of 16P11.2 Duplication Syndrome by Genetic Correction of an Epilepsy Network Hub by Marc P. Forrest; Marc Dos Santos; Nicolas H. Piguel; Yi-Zhi Wang; Nicole A. Hawkins; Vikram A. Bagchi; Leonardo E. Dionisio; Sehyoun Yoon; Dina Simkin; Maria Dolores Martin-de-Saavedra; Ruoqi Gao; Katherine E. Horan; Alfred L. George; Mark S. LeDoux; Jennifer A. Kearney; Jeffrey N. Savas; Peter Penzes is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Rescue of Neuropsychiatric Phenotypes in a Mouse Model of 16P11.2 Duplication Syndrome by Genetic Correction of an Epilepsy Network Hub about?
## Abstract Neuropsychiatric disorders (NPDs) are frequently co-morbid with epilepsy, but the biological basis of shared risk remains poorly understood. The 16p11.2 duplication is a copy number variant that confers risk for diverse NPDs including autism spectrum disorder, schizophrenia, intellectual disability and epilepsy. We used a mouse model of the 16p11.2 duplication (16p11.2^dup/+^) to uncover molecular and circuit properties associated with this broad phenotypic spectrum, and examined genes within the locus capable of phenotype reversal. Quantitative proteomics revealed alterations to synaptic networks and products of NPD risk genes. We identified an epilepsy-associated subnetwork that was dysregulated in 16p11.2^dup/+^ mice and altered in brain tissue from individuals with NPDs. Cortical circuits from 16p11.2^dup/+^ mice exhibited hypersynchronous activity and enhanced network glutamate release, which increased susceptibility to seizures. Using gene co-expression and interactome analysis, we show that PRRT2 is a major hub in the epilepsy subnetwork. Remarkably, correcting Prrt2 copy number rescued aberrant circuit properties, seizure susceptibility and social deficits in 16
Who reads Rescue of Neuropsychiatric Phenotypes in a Mouse Model of 16P11.2 Duplication Syndrome by Genetic Correction of an Epilepsy Network Hub?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Marc P. Forrest; Marc Dos Santos; Nicolas H. Piguel; Yi-Zhi Wang; Nicole A. Hawkins; Vikram A. Bagchi; Leonardo E. Dionisio; Sehyoun Yoon; Dina Simkin; Maria Dolores Martin-de-Saavedra; Ruoqi Gao; Katherine E. Horan; Alfred L. George; Mark S. LeDoux; Jennifer A. Kearney; Jeffrey N. Savas; Peter Penzes
- Publisher
- Springer Science and Business Media LLC
- Published
- 2023
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)