| First Author | Kang M | Year | 2023 |
| Journal | Ann Neurol | Volume | 93 |
| Issue | 1 | Pages | 155-163 |
| PubMed ID | 36251395 | Mgi Jnum | J:335442 |
| Mgi Id | MGI:7469930 | Doi | 10.1002/ana.26535 |
| Citation | Kang M, et al. (2023) CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2. Ann Neurol 93(1):155-163 |
| abstractText | Here, we report the generation and comprehensive characterization of a knockin mouse model for the hotspot p.Arg87Cys variant of the cytoplasmic FMR1-interacting protein 2 (CYFIP2) gene, which was recently identified in individuals diagnosed with West syndrome, a developmental and epileptic encephalopathy. The Cyfip2(+/R87C) mice recapitulated many neurological and neurobehavioral phenotypes of the patients, including spasmlike movements, microcephaly, and impaired social communication. Age-progressive cytoarchitectural disorganization and gliosis were also identified in the hippocampus of Cyfip2(+/R87C) mice. Beyond identifying a decrease in CYFIP2 protein levels in the Cyfip2(+/R87C) brains, we demonstrated that the p.Arg87Cys variant enhances ubiquitination and proteasomal degradation of CYFIP2. ANN NEUROL 2023;93:155-163. |
