Article
CLEC4C p.K210del variant causes impaired cell surface transport in plasmacytoid dendritic cells of amyotrophic lateral sclerosis.
Oncotarget - 3 May 2016
Lim Su Min, Kim Young-Eun, Choi Won Jun, Oh Ki-Wook, Noh Min-Young, Kwon Min-Soo, Nahm Minyeop, Kim Namshin, Ki Chang-Seok, Kim Seung Hyun
Abstract excerpt
The type II C-type lectin CLEC4C is a transmembrane protein selectively expressed on plasmacytoid dendritic cells (PDCs). Although its mechanism of action remains unclear, triggering of the extracellular C-terminal C-type carbohydrate recognition region of CLEC4C regulates the secretion of proinflammatory cytokines and type I IFNs in PDCs. Applying whole-exome sequencing in a patient with juvenile amyotrophic...
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