Article
Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis.
Molecular neurodegeneration - 20 May 2025
Noh Min-Young, Oh Seong-Il, Kim Young-Eun, Cha Sun Joo, Sung Wonjae, Oh Ki-Wook, Park Yurim, Mun Ji Young, Ki Chang-Seok, Nahm Minyeop, Kim Seung Hyun
Abstract excerpt
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 studied the genetic contribution of NEK1 to ALS pathogenesis by analyzing the exome sequences of 920 Korean patients with...
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