2018
DOI: 10.2139/ssrn.3155914
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Primary Cilium Mediated Retinal Pigment Epithelium Maturation is Retarded in Ciliopathy Patient Cells

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Cited by 3 publications
(3 citation statements)
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“…We note that EMT has not previously been linked to BBS, although EMT-like changes have been identified in models of other ciliopathy genes. Kidney organoids grown from patient-derived iPSCs carrying IFT140 mutations displayed a downregulation of genes involved in apical-basal polarity and cell-cell junctions [25] and incomplete formation of tight junctions has been observed in Bbs8 models [26]. Activation of RhoA is associated with EMT [27] which might suggest that increased RhoA activity reported in Bbs4 -/-and Bbs6 -/mouse embryonic fibroblasts was due to EMT-like transcriptional changes [4].…”
Section: Discussionmentioning
confidence: 99%
“…We note that EMT has not previously been linked to BBS, although EMT-like changes have been identified in models of other ciliopathy genes. Kidney organoids grown from patient-derived iPSCs carrying IFT140 mutations displayed a downregulation of genes involved in apical-basal polarity and cell-cell junctions [25] and incomplete formation of tight junctions has been observed in Bbs8 models [26]. Activation of RhoA is associated with EMT [27] which might suggest that increased RhoA activity reported in Bbs4 -/-and Bbs6 -/mouse embryonic fibroblasts was due to EMT-like transcriptional changes [4].…”
Section: Discussionmentioning
confidence: 99%
“…Once a cilium is formed, it maintains its length, integrity and structure despite the continuous turnover of its lipid and protein composition [4,14]. Cilium shortening, over-elongation and instability have been reported in ciliopathies, highlighting the physiological significance of maintaining proper cilium length and stability for its functions [10,[15][16][17][18]. To date, various mechanisms regulating cilium length and stability have been uncovered through functional screens and targeted molecular and cellular studies.…”
Section: Introductionmentioning
confidence: 99%
“…The primary cilium is a microtubule-based sensory organelle that extends from the plasma membrane. It is present in all cell types and plays a vital role in physiological and developmental processes by controlling different signalling pathways such as WNT, Sonic hedgehog (SHh), and transforming growth factor β (TGF-β) (Berbari et al, 2009;Ishikawa and Marshall, 2011;Christensen et al, 2012;May-Simera et al, 2018;Anvarian et al, 2019). Ciliary dysfunction generates different phenotypes, the most common of which are obesity, type 2 diabetes mellitus, retinopathies or the appearance of multiorgan fibrosis leading to liver, kidney, or lung dysfunction (Gerdes et al, 2009;Waters and Beales, 2011;Reiter and Leroux, 2017;May-Simera et al, 2018).…”
Section: Introductionmentioning
confidence: 99%