Cilia kinases in skeletal development and homeostasis

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Publikace nespadá pod Ekonomicko-správní fakultu, ale pod Lékařskou fakultu. Oficiální stránka publikace je na webu muni.cz.
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POOVAKULATHU ABRAHAM Sara NITĂ Alexandru KREJČÍ Pavel BOSÁKOVÁ Michaela

Rok publikování 2022
Druh Článek v odborném periodiku
Časopis / Zdroj Developmental dynamics
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
www https://anatomypubs.onlinelibrary.wiley.com/doi/10.1002/dvdy.426
Doi http://dx.doi.org/10.1002/dvdy.426
Klíčová slova cilia kinase; ciliopathy; endochondral bone formation; primary cilia; skeletal ciliopathy; skeletal dysplasia; skeletogenesis
Popis 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.
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