[HTML][HTML] AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

A Brechet, R Buchert, J Schwenk, S Boudkkazi… - Nature …, 2017 - nature.com
A Brechet, R Buchert, J Schwenk, S Boudkkazi, G Zolles, K Siquier-Pernet, I Schaber…
Nature communications, 2017nature.com
AMPA-type glutamate receptors (AMPARs), key elements in excitatory neurotransmission in
the brain, are macromolecular complexes whose properties and cellular functions are
determined by the co-assembled constituents of their proteome. Here we identify AMPAR
complexes that transiently form in the endoplasmic reticulum (ER) and lack the core-
subunits typical for AMPARs in the plasma membrane. Central components of these ER
AMPARs are the proteome constituents FRRS1l (C9orf4) and CPT1c that specifically and …
Abstract
AMPA-type glutamate receptors (AMPARs), key elements in excitatory neurotransmission in the brain, are macromolecular complexes whose properties and cellular functions are determined by the co-assembled constituents of their proteome. Here we identify AMPAR complexes that transiently form in the endoplasmic reticulum (ER) and lack the core-subunits typical for AMPARs in the plasma membrane. Central components of these ER AMPARs are the proteome constituents FRRS1l (C9orf4) and CPT1c that specifically and cooperatively bind to the pore-forming GluA1-4 proteins of AMPARs. Bi-allelic mutations in the human FRRS1L gene are shown to cause severe intellectual disability with cognitive impairment, speech delay and epileptic activity. Virus-directed deletion or overexpression of FRRS1l strongly impact synaptic transmission in adult rat brain by decreasing or increasing the number of AMPARs in synapses and extra-synaptic sites. Our results provide insight into the early biogenesis of AMPARs and demonstrate its pronounced impact on synaptic transmission and brain function.
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