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Lookup NU author(s): Roufaida Bouchenafa, Dr Francesca Johnson de Sousa Brito, Dr Katarzyna PirogORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
Skeletal dysplasias are group of rare genetic diseases resulting from mutations in genes encoding structural proteins of the cartilage extracellular matrix (ECM), signaling molecules, transcription factors, epigenetic modifiers, and several intracellular proteins. Cell division, organelle maintenance, and intracellular transport are all orchestrated by the cytoskeleton-associated proteins, and intracellular processes affected through microtubule-associated movement are important for the function of skeletal cells. Among microtubule-associated motor proteins, kinesins in particular have been shown to play a key role in cell cycle dynamics, including chromosome segregation, mitotic spindle formation, and ciliogenesis, in addition to cargo trafficking, receptor recycling, and endocytosis. Recent studies highlight the fundamental role of kinesins in embryonic development and morphogenesis and have shown that mutations in kinesin genes lead to several skeletal dysplasias. However, many questions concerning the specific functions of kinesins and their adaptor molecules as well as specific molecular mechanisms in which the kinesin proteins are involved during skeletal development remain unanswered. Here we present a review of the skeletal dysplasias resulting from defects in kinesins and discuss the involvement of kinesin proteins in the molecular mechanisms that are active during skeletal development.
Author(s): Bouchenafa R, Johnson de Sousa Brito FM, Pirog KA
Publication type: Review
Publication status: Published
Journal: American Journal of Physiology: Cell Physiology
Year: 2024
Volume: 327
Issue: 2
Pages: C278-C290
Print publication date: 01/08/2024
Online publication date: 22/07/2024
Acceptance date: 08/04/2024
ISSN (print): 0363-6143
ISSN (electronic): 1522-1563
URL: https://doi.org/10.1152/ajpcell.00613.2023
DOI: 10.1152/ajpcell.00613.2023
PubMed id: 38646780
