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- W3106100087 abstract "Abstract Ciliopathies are clinical disorders of the primary cilium with widely recognised phenotypic and genetic heterogeneity. Here, we found impaired ciliogenesis in fibroblasts derived from individuals with fetal akinesia deformation sequence (FADS), a broad spectrum of neuromuscular disorders arising from compromised foetal movement. We show that cells derived from FADS individuals have shorter and less primary cilia (PC), in association with alterations in post-translational modifications in α-tubulin. Similarly, siRNA-mediated depletion of two known FADS proteins, the scaffold protein rapsyn and the nucleoporin NUP88, resulted in defective PC formation. Consistent with a role in ciliogenesis, rapsyn and NUP88 localised to centrosomes and PC. Furthermore, proximity-ligation assays confirm the respective vicinity of rapsyn and NUP88 to γ-tubulin. Proximity-ligation assays moreover show that rapsyn and NUP88 are adjacent to each other and that the rapsyn-NUP88 interface is perturbed in the examined FADS cells. We suggest that the perturbed rapsyn-NUP88 interface leads to defects in PC formation and that defective ciliogenesis contributes to the pleiotropic defects seen in FADS." @default.
- W3106100087 created "2020-11-23" @default.
- W3106100087 creator A5003133842 @default.
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- W3106100087 creator A5031935120 @default.
- W3106100087 creator A5078334702 @default.
- W3106100087 date "2020-11-09" @default.
- W3106100087 modified "2023-10-17" @default.
- W3106100087 title "Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts" @default.
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- W3106100087 doi "https://doi.org/10.1038/s41598-020-76192-1" @default.
- W3106100087 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7652866" @default.
- W3106100087 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33168876" @default.
- W3106100087 hasPublicationYear "2020" @default.
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