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Adult-Onset Neuronal Ceroid Lipofuscinosis With a Novel DNAJC5 Mutation Exhibits Aberrant Protein Palmitoylation
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 re...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9031920/ https://www.ncbi.nlm.nih.gov/pubmed/35462699 http://dx.doi.org/10.3389/fnagi.2022.829573 |
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