Version 1
: Received: 8 October 2024 / Approved: 8 October 2024 / Online: 9 October 2024 (07:02:53 CEST)
How to cite:
Tumdam, R.; Garin-Shkolnik, T.; Stern, S. NMDA Receptors in Neurodevelopmental Disorders: Pathophysiology and Disease Models. Preprints2024, 2024100621. https://doi.org/10.20944/preprints202410.0621.v1
Tumdam, R.; Garin-Shkolnik, T.; Stern, S. NMDA Receptors in Neurodevelopmental Disorders: Pathophysiology and Disease Models. Preprints 2024, 2024100621. https://doi.org/10.20944/preprints202410.0621.v1
Tumdam, R.; Garin-Shkolnik, T.; Stern, S. NMDA Receptors in Neurodevelopmental Disorders: Pathophysiology and Disease Models. Preprints2024, 2024100621. https://doi.org/10.20944/preprints202410.0621.v1
APA Style
Tumdam, R., Garin-Shkolnik, T., & Stern, S. (2024). NMDA Receptors in Neurodevelopmental Disorders: Pathophysiology and Disease Models. Preprints. https://doi.org/10.20944/preprints202410.0621.v1
Chicago/Turabian Style
Tumdam, R., Tali Garin-Shkolnik and Shani Stern. 2024 "NMDA Receptors in Neurodevelopmental Disorders: Pathophysiology and Disease Models" Preprints. https://doi.org/10.20944/preprints202410.0621.v1
Abstract
N-methyl-D-aspartate receptors (NMDARs) are critical components of the mammalian central nervous system, involved in synaptic transmission, plasticity, and neurodevelopment. This review focuses on the structural and functional characteristics of NMDARs, with a particular emphasis on the GRIN2 subunits (GluN2A-D). The diversity of GRIN2 subunits, driven by alternative splicing and genetic variants, significantly impacts receptor function, synaptic localization, and disease manifestation. We explore the physiological properties and developmental regulation of these subunits, highlighting their roles in the pathophysiology of various NDDs, including ASD, epilepsy, and schizophrenia. By reviewing current knowledge and experimental models, including mouse models and human-induced pluripotent stem cells (hiPSCs), this article aims to elucidate different approaches through which the intricacies of NMDAR dysfunction in NDDs are currently being explored. The comprehensive understanding of NMDAR subunit composition and their mutations provides a foundation for developing targeted therapeutic strategies to address these complex disorders.
Biology and Life Sciences, Neuroscience and Neurology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
