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

Qiang Huang; Qiang Huang; Qiang Huang; Yong-Fang Zhang; Yong-Fang Zhang; Lin-Jie Li; Eric B. Dammer; Yong-Bo Hu; Yong-Bo Hu; Xin-Yi Xie; Ran Tang; Jian-Ping Li; Jin-Tao Wang; Xiang-Qian Che; Gang Wang; Ru-Jing Ren

doi:10.3389/fnagi.2022.829573

Frontiers in Aging Neuroscience (Apr 2022)

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

Qiang Huang,
Qiang Huang,
Qiang Huang,
Yong-Fang Zhang,
Yong-Fang Zhang,
Lin-Jie Li,
Eric B. Dammer,
Yong-Bo Hu,
Yong-Bo Hu,
Xin-Yi Xie,
Ran Tang,
Jian-Ping Li,
Jin-Tao Wang,
Xiang-Qian Che,
Gang Wang,
Ru-Jing Ren

Affiliations

Qiang Huang: Department of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Qiang Huang: Department of Pharmacology and Chemical Biology, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Qiang Huang: Shanghai Collaborative Innovation Center for Translational Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Yong-Fang Zhang: Department of Pharmacology and Chemical Biology, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Yong-Fang Zhang: Shanghai Collaborative Innovation Center for Translational Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Lin-Jie Li: iHuman Institute, Shanghai Tech University, Shanghai, China
Eric B. Dammer: Department of Biochemistry, Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA, United States
Yong-Bo Hu: Department of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Yong-Bo Hu: Department of Neurology, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China
Xin-Yi Xie: Department of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Ran Tang: Department of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Jian-Ping Li: Department of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Jin-Tao Wang: Department of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Xiang-Qian Che: Department of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Gang Wang: Department of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Ru-Jing Ren: Department of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

DOI: https://doi.org/10.3389/fnagi.2022.829573
Journal volume & issue: Vol. 14

Abstract

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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, L116Δ, 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.

Published in Frontiers in Aging Neuroscience

ISSN: 1663-4365 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Internal medicine: Neurosciences. Biological psychiatry. Neuropsychiatry
Website: https://www.frontiersin.org/journals/aging-neuroscience

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