| First Author | Skoulakis EMC | Year | 2022 |
| Mgi Jnum | J:329328 | Mgi Id | MGI:7343852 |
| Citation | Skoulakis EMC (2022) An Interspecies Approach to Model Differential Cognitive Effects of Specific Neurofibromin I Mutations. |
| abstractText | his proposal aims to improve the understanding of NF1 associated cognitive deficits and the domains of the protein through genetic studies in the two main NF1 model systems, Drosophila and mice. We plan to enhance our understanding of Nf1 functions other than regulation of Ras/MAPK signaling as also a means of rationalizing the variability of phenotypic manifestations of the disease. Our main objective towards that is to establish the role(s) of the N-IRA and the LBR Nf1 domains in learning and memory and identify neuronal circuits and molecular mechanisms requiring functionality of these domains. We aim to test the following hypotheses: First, Nf1 mutations outside the GAP domain affect learning and memory with distinct spatiotemporal requirements from loss of function mutations. Second, these mutations outside the GAP domain do not affect growth as null mutations do. Finally, do these point mutations affect the same or distinct biochemical pathways as |
