Charlotte Stenum-Berg
A5038464178- Receptor Mechanisms and Signaling
- Neuroscience and Neuropharmacology Research
- Chemical Synthesis and Analysis
- Genetics and Neurodevelopmental Disorders
- Ion channel regulation and function
- RNA and protein synthesis mechanisms
- Genomics and Rare Diseases
University of Copenhagen
2017-2023
University of Oxford
2019
Abstract AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded GRIA1–GRIA4 genes, which only GRIA3 is X-chromosomal. Increasing numbers missense variants are reported patients with neurodevelopmental disorders (NDD), but a few have been examined functionally. Here, we evaluated impact on AMPAR function one frameshift and 43 rare identified NDD...
The <i>α</i>-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPARs) constitute a subclass of the ionotropic glutamate receptor superfamily, which functions as glutamate-gated cation channels to mediate majority excitatory neurotransmission in central nervous system. AMPARs are therapeutic targets range brain disorders associated with abnormal hyperactivity. Multiple classes AMPAR inhibitors have been developed during past decades, including competitive antagonists, ion channel...