Article

Koolen-de Vries Syndrome causal gene <i>KANSL1</i> is required for motile ciliogenesis

2024-11-14

Abstract excerpt

<h4>ABSTRACT</h4> Koolen-de Vries Syndrome (KdVS), characterized by hypersociability, intellectual disability, and seizures, is caused by pathogenic variants in the gene KANSL1 , which encodes a chromatin regulator in the NSL complex that also directly functions in mitotic spindle microtubule stability. Here we explored whether KANSL1 functions at the cilium, a microtubule-rich organelle critical for brain devel...

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Literature Corpus work: 4018493d-bd9f-5b14-b060-ef66dd090c5b
DOI: 10.1101/2024.11.14.621349

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