A growing team of groundbreaking scientists around the world are now sharing their lab notebooks online
Grin1 p.Tyr647Ser Project Background. Grin genes across species encode for proteins that make up the different NMDA receptor subunits. GRIN1 mutations (usually heterozygous) are associated with intellectual disability with epilepsy in humans, including the rare p.Tyr647Ser (Y647S) variant. This missense mutation occurs in the M3 helix of the transmembrane domain of GRIN1 which, importantly, is conserved between human GRIN1 and mouse Read More …
This is a test to figure out how we add links to zenodo lab notebooks, which are time stamped and have a DOI. I uploaded an image of our Sanger sequence that shows the introduction of base pair changes to cause an amino acid substitution Y647S. https://zenodo.org/record/3379009#.XWVmfpNKhp8
For the Ramsey Lab, this project began in 2018, when we were invited to a parent-organized meeting for caregivers of GRIN1 patients. Our group uses mice to study the NMDA receptor (which is encoded by the GRIN genes) in the context of schizophrenia and autism. It was only in 2018 that we learned of a Read More …
