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

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

JOURNAL=Frontiers in Aging Neuroscience

VOLUME=14

YEAR=2022

URL=https://www.frontiersin.org/journals/aging-neuroscience/articles/10.3389/fnagi.2022.829573

DOI=10.3389/fnagi.2022.829573

ISSN=1663-4365

ABSTRACT=<p>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 <italic>DNAJC5</italic> 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.</p>