Adult-Onset Neuronal Ceroid Lipofuscinosis With a Novel DNAJC5 Mutation Exhibits Aberrant Protein Palmitoylation
oleh: 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
| Format: | Article |
|---|---|
| Diterbitkan: | Frontiers Media S.A. 2022-04-01 |
Deskripsi
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.