BROWSE

Related Scientist

SYNAPSE's photo.

SYNAPSE
시냅스 뇌질환 연구단
more info

ITEM VIEW & DOWNLOAD

CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2

Cited 0 time in webofscience Cited 0 time in scopus
283 Viewed 0 Downloaded
Title
CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2
Author(s)
Muwon Kang; Zhang, Yinhua; Kang, Hyae Rim; Seoyeong Kim; Ma, Ruiying; Yi, Yunho; Seungjoon Lee; Kim, Yoonhee; Li, Huiling; Jin, Chunmei; Lee, Dongmin; Eunjoon Kim; Han, Kihoon
Publication Date
2023-01
Journal
ANNALS OF NEUROLOGY, v.93, no.1, pp.155 - 163
Publisher
WILEY
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
URI
https://pr.ibs.re.kr/handle/8788114/12458
DOI
10.1002/ana.26535
ISSN
0364-5134
Appears in Collections:
Center for Synaptic Brain Dysfunctions(시냅스 뇌질환 연구단) > 1. Journal Papers (저널논문)
Files in This Item:
There are no files associated with this item.

qrcode

  • facebook

    twitter

  • Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.
해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse