Article

NEK1 haploinsufficiency impairs ciliogenesis in human iPSC-derived motoneurons and brain organoids

2024-03-02

Abstract excerpt

<h4>ABSTRACT</h4> Primary cilia are microtubule-based organelles acting as specialized signalling antennae that respond to specific stimuli to maintain cellular integrity and homeostasis. Recent studies indicate defective primary cilia in post-mortem human brains and animal models of neurodegenerative conditions, including Amyotrophic Lateral Sclerosis (ALS). Heterozygous loss-of-function mutations (LOF) in NEK1...

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Literature Corpus work: d39f10d9-790c-5e09-b79e-d3a2d09bee86
DOI: 10.1101/2024.02.29.582696

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