Adult-Onset Neuronal Ceroid Lipofuscinosis With a Novel DNAJC5 Mutation Exhibits Aberrant Protein Palmitoylation

doi:10.3389/fnagi.2022.829573

	Adult-Onset Neuronal Ceroid Lipofuscinosis With a Novel DNAJC5 Mutation Exhibits Aberrant Protein Palmitoylation
	Huang, Qiang 1,2,3; Zhang, Yong-Fang 2,3; Li, Lin-Jie4 ; Dammer, Eric B.5; Hu, Yong-Bo 1,6; Xie, Xin-Yi 1; Tang, Ran 1; Li, Jian-Ping 1; Wang, Jin-Tao 1; Che, Xiang-Qian 1; Wang, Gang 1; Ren, Ru-Jing 1
	2022-04-08
发表期刊	FRONTIERS IN AGING NEUROSCIENCE (IF:4.1[JCR-2023],4.6[5-Year])
ISSN	1663-4365
卷号	14
发表状态	已发表
DOI	10.3389/fnagi.2022.829573
摘要	Neuronal ceroid lipofuscinosis (NCL) is composed of a group of inherited neurodegenerative diseases, with the hallmark of lipofuscin deposit (a mixture of lipids and proteins with metal materials) inside the lysosomal lumen, which typically emits auto-fluorescence. Adult-onset NCL (ANCL) has been reported to be associated with a mutation in the DNAJC5 gene, including L115R, L116 & UDelta;, and the recently identified C124_C133dup mutation. In this study, we reported a novel C128Y mutation in a young Chinese female with ANCL, and this novel mutation caused abnormal palmitoylation and triggered lipofuscin deposits.
关键词	cysteine string protein alpha adult-onset neuronal ceroid lipofuscinosis neurodegenerative disease lysosome cognitive decline
URL	查看原文
收录类别	SCI ; SCIE
语种	英语
资助项目	National Natural Science Foundation of China[81971068,81801045] ; Natural Science Foundation of Shanghai[19ZR1431500]
WOS研究方向	Geriatrics & Gerontology ; Neurosciences & Neurology
WOS类目	Geriatrics & Gerontology ; Neurosciences
WOS记录号	WOS:000807757200001
出版者	FRONTIERS MEDIA SA
引用统计	正在获取...
文献类型	期刊论文
条目标识符	https://kms.shanghaitech.edu.cn/handle/2MSLDSTB/195023
专题	iHuman研究所_公共科研平台_生命科学电镜平台
通讯作者	Wang, Gang; Ren, Ru-Jing
作者单位	1.Shanghai Jiao Tong Univ, Ruijin Hosp, Inst Neurol, Dept Neurol,Sch Med, Shanghai, Peoples R China 2.Shanghai Jiao Tong Univ, Dept Pharmacol & Chem Biol, Sch Med, Shanghai, Peoples R China 3.Shanghai Jiao Tong Univ, Shanghai Collaborat Innovat Ctr Translat Med, Sch Med, Shanghai, Peoples R China 4.Shanghai Tech Univ, iHuman Inst, Shanghai, Peoples R China 5.Emory Univ, Sch Med, Dept Biochem, Ctr Neurodegenerat Dis, Atlanta, GA 30322 USA 6.Tongji Univ, Shanghai East Hosp, Dept Neurol, Sch Med, Shanghai, Peoples R China
推荐引用方式 GB/T 7714	Huang, Qiang,Zhang, Yong-Fang,Li, Lin-Jie,et al. Adult-Onset Neuronal Ceroid Lipofuscinosis With a Novel DNAJC5 Mutation Exhibits Aberrant Protein Palmitoylation[J]. FRONTIERS IN AGING NEUROSCIENCE,2022,14.
APA	Huang, Qiang.,Zhang, Yong-Fang.,Li, Lin-Jie.,Dammer, Eric B..,Hu, Yong-Bo.,...&Ren, Ru-Jing.(2022).Adult-Onset Neuronal Ceroid Lipofuscinosis With a Novel DNAJC5 Mutation Exhibits Aberrant Protein Palmitoylation.FRONTIERS IN AGING NEUROSCIENCE,14.
MLA	Huang, Qiang,et al."Adult-Onset Neuronal Ceroid Lipofuscinosis With a Novel DNAJC5 Mutation Exhibits Aberrant Protein Palmitoylation".FRONTIERS IN AGING NEUROSCIENCE 14(2022).