Article

Centriole structural integrity defects are a crucial feature of Hydrolethalus Syndrome

2024-03-06

Abstract excerpt

<h4>ABSTRACT</h4> Hydrolethalus Syndrome (HLS) is a lethal, autosomal recessive ciliopathy caused by the mutation of the conserved centriole protein HYLS1. However, how HYLS1 facilitates the centriole-based templating of cilia is poorly understood. Here, we show that mice harboring the HYLS1 disease mutation die shortly after birth and exhibit developmental defects that recapitulate several manifestations of the...

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Literature Corpus work: a816dc52-0dfb-58e5-9657-e60454eb71d8
DOI: 10.1101/2024.03.06.583733

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