ArticleDevelopmental cell2018
Trisomy 21 Represses Cilia Formation and Function.
Article in Developmental cell, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 70 citations in OpenAlex.
- Aberrant PCM1 accumulation in Trisomy 21 mislocalizes E3 ligases, delaying primary ciliogenesis.bioRxiv : the preprint server for biology · 2026Article
- Distinct disassembly modes shape cytoskeletal assembly and fluctuations.Biophysical reports · 2026Article
- Activating adaptor-like sequences in pericentrin mediate its transport by dynein.bioRxiv : the preprint server for biology · 2026Article
- Trisomy 21 alters ciliary localization of Sonic Hedgehog signaling proteins.bioRxiv : the preprint server for biology · 2026Article
- Transcriptome analyses reveal the fertility defect in the Dp(16)1Yey/+ mouse model of Down syndrome.Journal of assisted reproduction and genetics · 2026Article
- Activation of the ciliary kinase CDKL5 is mediated by the cyclin-dependent kinase CDK20/LF2 to control flagellar length.PLoS biology · 2025Article
- TAOK2 drives opposing cilia length deficits in 16p11.2 deletion and duplication carriers.Stem cell reports · 2025Article
- Cilia.Pro database of ciliary proteins from vertebrates,Molecular biology of the cell · 2025Article
- Quantitative Signatures of Disassembly Mechanisms Modulating Filament and Bundle Assembly in a Shared Pool.bioRxiv : the preprint server for biology · 2025Article
- TBC1D20 coordinates vesicle transport and actin remodeling to regulate ciliogenesis.The Journal of cell biology · 2025Article
- Navigating centriolar satellites: the role of PCM1 in cellular and organismal processes.The FEBS journal · 2025Review
- Choroid plexus defects in Down syndrome brain organoids enhance neurotropism of SARS-CoV-2.Science advances · 2024Article
- Coiled-coil domains are sufficient to drive liquid-liquid phase separation in protein models.Biophysical journal · 2024Article
- Functions of cilia in cardiac development and disease.Annals of human genetics · 2024Review
- Circadian oscillation in primary cilium length by clock genes regulates fibroblast cell migration.EMBO reports · 2023Article
- Increased lethality of respiratory infection byFASEB bioAdvances · 2023Article
- The Role of Oxidative Stress in Trisomy 21 Phenotype.Cellular and molecular neurobiology · 2023Review
- Article
- The E3 ligase Poe promotes Pericentrin degradation.Molecular biology of the cell · 2023Article
- Coiled-coil domains are sufficient to drive liquid-liquid phase separation of proteins in molecular models.bioRxiv : the preprint server for biology · 2023Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Trisomy 21 (T21) is the most prevalent human chromosomal disorder, causing a range of cardiovascular, musculoskeletal, and neurological abnormalities. However, the cellular processes disrupted by T21 are poorly understood. Consistent with the clinical overlap between T21 and ciliopathies, we discovered that T21 disrupts cilia formation and signaling. Cilia defects arise from increased expression of Pericentrin, a centrosome scaffold and trafficking protein encoded on chromosome 21. Elevated Pericentrin is necessary and sufficient for T21 cilia defects. Pericentrin accumulates at centrosomes and dramatically in the cytoplasm surrounding centrosomes. Centrosome Pericentrin recruits more γ-tubulin and enhances microtubules, whereas cytoplasmic Pericentrin assembles into large foci that do not efficiently traffic. Moreover, the Pericentrin-associated cilia assembly factor IFT20 and the ciliary signaling molecule Smoothened do not efficiently traffic to centrosomes and cilia. Thus, increased centrosome protein dosage produces ciliopathy-like outcomes in T21 cells by decreasing trafficking between the cytoplasm, centrosomes, and cilia.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.