Centriole structural integrity defects are a crucial feature of Hydrolethalus Syndrome
Ana Curinha, Zhaoyu Huang, Taylor Anglen, Margaret A. Strong, Colin R. Gliech, Cayla E Jewett, Anoek Friskes, Thao P. Phan, Zachary Nicholas, Andrew Jon Holland
This study shows that HYLS1 mutations cause centriole structural defects leading to ciliary dysfunction and developmental issues in mice, mirroring human Hydrolethalus Syndrome.
The Journal of Cell Biology · Jan 22, 2025Peer-reviewedCell Biology