PXD006413

PXD006413 is an original dataset announced via ProteomeXchange.

Title	AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability
Description	AMPA-type glutamate receptors (AMPARs), key elements in excitatory neuro-transmission 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.
HostingRepository	PRIDE
AnnounceDate	2018-10-17
AnnouncementXML	Submission_2018-10-17_01:21:15.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD006413
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	Alexander Haupt
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090; scientific name: Rattus norvegicus (Rat); NCBI TaxID: 10116;
ModificationList	Phospho; Propionamide; Glu->pyro-Glu; Deamidated; Oxidation; Acetyl; Carbamidomethyl; Gln->pyro-Glu
Instrument	LTQ Orbitrap Elite

Revision	Datetime	Status	ChangeLog Entry
0	2017-05-02 00:43:11	ID requested
⏵ 1	2018-10-17 01:21:17	announced

Brechet A, Buchert R, Schwenk J, Boudkkazi S, Zolles G, Siquier-Pernet K, Schaber I, Bildl W, Saadi A, Bole-Feysot C, Nitschke P, Reis A, Sticht H, Al-Sanna'a N, Rolfs A, Kulik A, Schulte U, Colleaux L, Abou Jamra R, Fakler B, AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability. Nat Commun, 8():15910(2017) [pubmed]

curator keyword: Biological

submitter keyword: AMPA-receptor biogenesis complexes, proteomic analysis, excitatory synaptic transmission, intellectual disability

Prof. Dr. Bernd Fakler
contact affiliation	Institute of Physiology II Universität Freiburg Germany
contact email	bernd.fakler@physiologie.uni-freiburg.de
lab head
Alexander Haupt
contact affiliation	University of Freiburg, Germany
contact email	alexander.haupt@physiologie.uni-freiburg.de
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD006413
     1. Label: PRIDE project
     2. Name: AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability