Publications by authors named "Taylor M Benske"
The GRIN genes encoding N-methyl-D-aspartate receptor (NMDAR) subunits are remarkably intolerant to variation. Many pathogenic NMDAR variants result in their protein misfolding, inefficient assembly, reduced surface expression, and impaired function on neuronal membrane, causing neurological disorders including epilepsy and intellectual disability. Here, we investigated the proteostasis maintenance of NMDARs containing epilepsy-associated variations in the GluN2A subunit, including M705V and A727T.
View Article and Find Full Text PDFArticle Synopsis
- N-methyl-D-aspartate receptors (NMDARs) are important for excitatory signaling and synaptic development in the brain, typically formed by GluN1 and GluN2 subunits.
- Variants in NMDAR genes are linked to several neurodevelopmental and psychiatric disorders, making proper receptor assembly and surface expression crucial for brain function.
- The review discusses the mechanisms ensuring NMDAR assembly and trafficking, the impact of disease-related variants, and potential therapeutic strategies to improve NMDAR function in affected individuals.