Cilia kinases in skeletal development and homeostasis

Investor logo

Warning

This publication doesn't include Faculty of Economics and Administration. It includes Faculty of Medicine. Official publication website can be found on muni.cz.
Authors

POOVAKULATHU ABRAHAM Sara NITĂ Alexandru KREJČÍ Pavel BOSÁKOVÁ Michaela

Year of publication 2022
Type Article in Periodical
Magazine / Source Developmental dynamics
MU Faculty or unit

Faculty of Medicine

Citation
Web https://anatomypubs.onlinelibrary.wiley.com/doi/10.1002/dvdy.426
Doi http://dx.doi.org/10.1002/dvdy.426
Keywords cilia kinase; ciliopathy; endochondral bone formation; primary cilia; skeletal ciliopathy; skeletal dysplasia; skeletogenesis
Description Primary cilia are dynamic compartments that regulate multiple aspects of cellular signaling. The production, maintenance, and function of cilia involve more than 1000 genes in mammals, and their mutations disrupt the ciliary signaling which manifests in a plethora of pathological conditions-the ciliopathies. Skeletal ciliopathies are genetic disorders affecting the development and homeostasis of the skeleton, and encompass a broad spectrum of pathologies ranging from isolated polydactyly to lethal syndromic dysplasias. The recent advances in forward genetics allowed for the identification of novel regulators of skeletogenesis, and revealed a growing list of ciliary proteins that are critical for signaling pathways implicated in bone physiology. Among these, a group of protein kinases involved in cilia assembly, maintenance, signaling, and disassembly has emerged. In this review, we summarize the functions of cilia kinases in skeletal development and disease, and discuss the available and upcoming treatment options.
Related projects:

You are running an old browser version. We recommend updating your browser to its latest version.