GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu...
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
About this item
Full title
Author / Creator
Ung, Dévina C , Pietrancosta, Nicolas , Badillo, Elena Baz , Raux, Brigitt , Tapken, Daniel , Zlatanovic, Andjela , Doridant, Adrien , Pode-Shakked, Ben , Raas-Rothschild, Annick , Elpeleg, Orly , Abu-Libdeh, Bassam , Hamed, Nasrin , Papon, Marie-Amélie , Marouillat, Sylviane , Thépault, Rose-Anne , Stevanin, Giovanni , Elegheert, Jonathan , Letellier, Mathieu , Hollmann, Michael , Lambolez, Bertrand , Tricoire, Ludovic , Toutain, Annick , Hepp, Régine and Laumonnier, Frédéric
Publisher
Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
Nature Publishing Group
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More information
Scope and Contents
Contents
The ionotropic glutamate delta receptor GluD1, encoded by the GRID1 gene, is involved in synapse formation, function, and plasticity. GluD1 does not bind glutamate, but instead cerebellin and D-serine, which allow the formation of trans-synaptic bridges, and trigger transmembrane signaling. Despite wide expression in the nervous system, pathogenic...
Alternative Titles
Full title
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
Authors, Artists and Contributors
Author / Creator
Pietrancosta, Nicolas
Badillo, Elena Baz
Raux, Brigitt
Tapken, Daniel
Zlatanovic, Andjela
Doridant, Adrien
Pode-Shakked, Ben
Raas-Rothschild, Annick
Elpeleg, Orly
Abu-Libdeh, Bassam
Hamed, Nasrin
Papon, Marie-Amélie
Marouillat, Sylviane
Thépault, Rose-Anne
Stevanin, Giovanni
Elegheert, Jonathan
Letellier, Mathieu
Hollmann, Michael
Lambolez, Bertrand
Tricoire, Ludovic
Toutain, Annick
Hepp, Régine
Laumonnier, Frédéric
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_04749709v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04749709v1
Other Identifiers
ISSN
1359-4184
E-ISSN
1476-5578
DOI
10.1038/s41380-024-02469-w
