Nature Communications (Mar 2017)
Epilepsy and intellectual disability linked protein Shrm4 interaction with GABABRs shapes inhibitory neurotransmission
- Jonathan Zapata,
- Edoardo Moretto,
- Saad Hannan,
- Luca Murru,
- Anna Longatti,
- Davide Mazza,
- Lorena Benedetti,
- Matteo Fossati,
- Christopher Heise,
- Luisa Ponzoni,
- Pamela Valnegri,
- Daniela Braida,
- Mariaelvina Sala,
- Maura Francolini,
- Jeffrey Hildebrand,
- Vera Kalscheuer,
- Francesca Fanelli,
- Carlo Sala,
- Bernhard Bettler,
- Silvia Bassani,
- Trevor G. Smart,
- Maria Passafaro
Affiliations
- Jonathan Zapata
- CNR, Institute of Neuroscience
- Edoardo Moretto
- CNR, Institute of Neuroscience
- Saad Hannan
- Department of Neuroscience, Physiology and Pharmacology, University College London
- Luca Murru
- CNR, Institute of Neuroscience
- Anna Longatti
- CNR, Institute of Neuroscience
- Davide Mazza
- Centro di Imaging Sperimentale e Università Vita-Salute San Raffaele, Istituto Scientifico Ospedale San Raffaele, Via Olgettina 60
- Lorena Benedetti
- CNR, Institute of Neuroscience
- Matteo Fossati
- CNR, Institute of Neuroscience
- Christopher Heise
- CNR, Institute of Neuroscience
- Luisa Ponzoni
- Fondazione Umberto Veronesi, Piazza Velasca 5
- Pamela Valnegri
- CNR, Institute of Neuroscience
- Daniela Braida
- Department of Medical Biotechnology and Translational Medicine (BIOMETRA), Università di Milano
- Mariaelvina Sala
- CNR, Institute of Neuroscience
- Maura Francolini
- CNR, Institute of Neuroscience
- Jeffrey Hildebrand
- Department of Biological Sciences, University of Pittsburgh
- Vera Kalscheuer
- Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics
- Francesca Fanelli
- Department of Life Sciences, University of Modena and Reggio Emilia
- Carlo Sala
- CNR, Institute of Neuroscience
- Bernhard Bettler
- Department of Biomedicine, University of Basel
- Silvia Bassani
- CNR, Institute of Neuroscience
- Trevor G. Smart
- Department of Neuroscience, Physiology and Pharmacology, University College London
- Maria Passafaro
- CNR, Institute of Neuroscience
- DOI
- https://doi.org/10.1038/ncomms14536
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 17
Abstract
Mutations in the gene encoding Shrm4 are associated with epilepsy and intellectual disability. The authors show that Shrm4 interacts with GABABreceptors and regulates tonic inhibition in the hippocampus, and knockdown of Shrm4 in rats leads to anxiety-like behaviour and seizures.
