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Involvement of kinesins in skeletal dysplasia: a review

Lookup NU author(s): Roufaida Bouchenafa, Dr Francesca Johnson de Sousa Brito, Dr Katarzyna PirogORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Abstract

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.


Publication metadata

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


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