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C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis

15 Oct 2024

Abstract excerpt

Progressive loss of motor neurons is the hallmark of the neurodegenerative disease amyotrophic lateral sclerosis (ALS), but the underlying disease mechanisms remain incompletely understood. In this study, we investigate the effects of C21ORF2 mutations, a gene recently linked to ALS, and find that primary cilia are dysfunctional. Human patient-derived mutant C21ORF2 motor neurons have a reduced ciliary frequency...

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PMID: 39703094
DOI: 10.1093/brain/awae331

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