GIGYF1-disturbed IGF-1R recycling: a potential contributor to autism spectrum disorder pathogenesis?

doi:10.1172/JCI163553

科研成果详情

名称	GIGYF1-disturbed IGF-1R recycling: a potential contributor to autism spectrum disorder pathogenesis?
作者	Xing, Mengen1,2,3,4; Zhang, Qing 5; Song, Weihong1,2,3,4
发表期刊	JOURNAL OF CLINICAL INVESTIGATION
语种	英语
原始文献类型	Editorial Material
其他关键词	GENETIC RISK ; MUTATIONS ; INSIGHTS
摘要	Autism spectrum disorder (ASD) is a highly variable and heritable neurodevelopmental disease (NDD) with strong genetic underpinnings. In this issue of the JCI, Chen et al. analyzed 2 previously reported, large-scale sequenced ASD cohorts and reported that GIGYF1 is the second most mutated among ASD risk genes. In this issue of the JCI, Chen et al. used a conditional mouse model combined with molecular technologies based on human genetic analyses to determine the critical role of GIGYF1 in ASD. GIGYF1-deficiency affected the recycling of IGF-1R, thereby suppressing the IGF-1R/ERK signaling pathway. Disruption of GIGYF1 in the developing mouse brain led to social deficits and cognitive impairments. These findings extend our understanding of ASD pathogenesis and provide an avenue for developing potentially effective preventions and treatments for patients with ASD.
出版者	AMER SOC CLINICAL INVESTIGATION INC
ISSN	0021-9738
EISSN	1558-8238
卷号	132
期号	19
DOI	10.1172/JCI163553
页数	4
WOS类目	Medicine, Research & Experimental
WOS研究方向	Research & Experimental Medicine
WOS记录号	WOS:000875840900003
收录类别	SCIE
发布日期	2022-10-03
PubMed ID	36189799
自定义期刊分类	T2(B)类
通讯作者地址	[Song, Weihong]Wenzhou Med Univ, Wenzhou, Zhejiang, Peoples R China.
TOP期刊	TOP期刊
引用统计
文献类型	其他
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/174735
专题	卓越中心_老年研究院附属第二医院第二临床医学院、附属第二医院、育英儿童医院其他_附属康宁医院（温州市康宁医院）
通讯作者	Song, Weihong
作者单位	1.Wenzhou Med Univ, Inst Aging, Key Lab Alzheimers Dis Zhejiang Prov, Sch Mental Hlth, Wenzhou, Peoples R China; 2.Wenzhou Med Univ, Affiliated Hosp 2, Affiliated Kangning Hosp, Wenzhou, Peoples R China; 3.Wenzhou Med Univ, Yuying Childrens Hosp, Wenzhou, Peoples R China; 4.Oujiang Lab, Zhejiang Lab Regenerat Med Vis & Brain Hlth, Wenzhou, Zhejiang, Peoples R China; 5.Univ British Columbia, Townsend Family Labs, Dept Psychiat, Vancouver, BC, Canada
第一作者单位	温州医科大学; 附属第二医院; 第二临床医学院，附属第二医院、育英儿童医院; 附属康宁医院（温州市康宁医院）
通讯作者单位	温州医科大学
推荐引用方式 GB/T 7714	Xing, Mengen,Zhang, Qing,Song, Weihong. GIGYF1-disturbed IGF-1R recycling: a potential contributor to autism spectrum disorder pathogenesis?. 2022.