Article
Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Jan 2019
Lewis Wesley R, Bales Katie L, Revell Dustin Z, Croyle Mandy J, Engle Staci E, Song Cheng Jack, Malarkey Erik B, Uytingco Cedric R, Shan Dan, Antonellis Patrick J, Nagy Tim R, Kesterson Robert A, Mrug Michal M, Martens Jeffrey R, Berbari Nicolas F, Gross Alecia K, Yoder Bradley K
Abstract excerpt
The transition zone (TZ) is a domain at the base of the cilium that is involved in maintaining ciliary compartment-specific sensory and signaling activity by regulating cilia protein composition. Mutations in TZ proteins result in cilia dysfunction, often causing pleiotropic effects observed in a group of human diseases classified as ciliopathies. The purpose of this study is to describe the importance of the TZ...
Topics
- Acetylation
- Animals
- Cilia
- Ciliary Motility Disorders
- Cytoplasm
- Cytoskeletal Proteins
- Encephalocele
- Female
- Genes, Lethal