Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts
R. Juhlen, V. Martinelli, C. Vinci, J. Breckpot, B. Fahrenkrog
The paper identifies ciliary defects in fibroblasts from individuals with fetal akinesia deformation sequence and shows that rapsyn and NUP88 are required for primary cilia formation.
bioRxiv · Feb 25, 2020Cell Biology