Cilia kinases in skeletal development and homeostasis

0556562 - ÚŽFG 2023 RIV US eng J - Journal Article
Abraham, S. P. - Nita, A. - Krejčí, Pavel - Bosáková, Michaela
Cilia kinases in skeletal development and homeostasis.
Developmental Dynamics. Roč. 251, č. 4 (2022), s. 577-608. ISSN 1058-8388. E-ISSN 1097-0177
R&D Projects: GA MŠMT(CZ) LTAUSA19030
Institutional support: RVO:67985904
Keywords : cilia kinase * ciliopathy * endochondral bone formation
OECD category: Developmental biology
Impact factor: 2.5, year: 2022
Method of publishing: Open access
https://anatomypubs.onlinelibrary.wiley.com/doi/10.1002/dvdy.426

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.
Permanent Link: http://hdl.handle.net/11104/0330716