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CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2
- Authors
- Kang, Muwon; Zhang, Yinhua; Kang, Hyae Rim; Kim, Seoyeong; Ma, Ruiying; Yi, Yunho; Lee, Seungjoon; Kim, Yoonhee; Li, Huiling; Jin, Chunmei; Lee, Dongmin; Kim, Eunjoon; Han, Kihoon
- Issue Date
- Oct-2022
- Publisher
- John Wiley & Sons Inc.
- Citation
- Annals of Neurology, v.93, no.1, pp 155 - 163
- Pages
- 9
- Indexed
- SCIE
SCOPUS
- Journal Title
- Annals of Neurology
- Volume
- 93
- Number
- 1
- Start Page
- 155
- End Page
- 163
- ISSN
- 0364-5134
1531-8249
- Abstract
- 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 2022
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Related Researcher
- Han, Kihoon
- College of Medicine (Department of Neural Sciences)