Nature Communications (Jul 2017)
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability
- Aline Brechet,
- Rebecca Buchert,
- Jochen Schwenk,
- Sami Boudkkazi,
- Gerd Zolles,
- Karine Siquier-Pernet,
- Irene Schaber,
- Wolfgang Bildl,
- Abdelkrim Saadi,
- Christine Bole-Feysot,
- Patrick Nitschke,
- Andre Reis,
- Heinrich Sticht,
- Nouriya Al-Sanna’a,
- Arndt Rolfs,
- Akos Kulik,
- Uwe Schulte,
- Laurence Colleaux,
- Rami Abou Jamra,
- Bernd Fakler
Affiliations
- Aline Brechet
- Institute of Physiology, Faculty of Medicine, University of Freiburg
- Rebecca Buchert
- Institute of Human Genetics, University of Erlangen
- Jochen Schwenk
- Institute of Physiology, Faculty of Medicine, University of Freiburg
- Sami Boudkkazi
- Institute of Physiology, Faculty of Medicine, University of Freiburg
- Gerd Zolles
- Institute of Physiology, Faculty of Medicine, University of Freiburg
- Karine Siquier-Pernet
- INSERM UMR 1163, Paris-Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Necker-Enfants Malades Hospital
- Irene Schaber
- Institute of Physiology, Faculty of Medicine, University of Freiburg
- Wolfgang Bildl
- Institute of Physiology, Faculty of Medicine, University of Freiburg
- Abdelkrim Saadi
- Department de Neurologie, Etablissement Hospitalier Specialisé de Benaknoun
- Christine Bole-Feysot
- INSERM UMR 1163, Paris-Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Necker-Enfants Malades Hospital
- Patrick Nitschke
- INSERM UMR 1163, Paris-Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Necker-Enfants Malades Hospital
- Andre Reis
- Institute of Human Genetics, University of Erlangen
- Heinrich Sticht
- Institute of Biochemistry, Emil-Fischer Center
- Nouriya Al-Sanna’a
- Dharan Health Center
- Arndt Rolfs
- Center for Biological Signaling Studies (BIOSS)
- Akos Kulik
- Institute of Physiology, Faculty of Medicine, University of Freiburg
- Uwe Schulte
- Institute of Physiology, Faculty of Medicine, University of Freiburg
- Laurence Colleaux
- INSERM UMR 1163, Paris-Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Necker-Enfants Malades Hospital
- Rami Abou Jamra
- Institute of Human Genetics, University of Erlangen
- Bernd Fakler
- Institute of Physiology, Faculty of Medicine, University of Freiburg
- DOI
- https://doi.org/10.1038/ncomms15910
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 14
Abstract
The biogenesis of AMPA-type glutamate receptor (AMPAR) complexes is only partially understood. Here the authors identify transient assemblies of GluA1-4 proteins and proteins FRRS1l/CPT1c that drive formation of mature AMPAR complexes in the ER. Mutations in FRRS1l are associated with intellectual disability and epilepsy in three families.
