Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis

Abstract Background Neuronal primary cilia, vital for signaling and cell-cycle regulation, have been implicated in maintaining neuronal identity. While a link between primary ciliary defects and neurodegenerative diseases is emerging, the precise pathological mechanisms remain unclear. Methods We st...

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Main Authors: Min-Young Noh, Seong-il Oh, Young-Eun Kim, Sun Joo Cha, Wonjae Sung, Ki-Wook Oh, Yurim Park, Ji Young Mun, Chang-Seok Ki, Minyeop Nahm, Seung Hyun Kim
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Molecular Neurodegeneration
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Online Access:https://doi.org/10.1186/s13024-025-00848-7
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