ArticleEMBO molecular medicine2020
MECP2 mutations affect ciliogenesis: a novel perspective for Rett syndrome and related disorders.
Article in EMBO molecular medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 49 citations in OpenAlex.
- MeCP2 MBD-ID module: a unified DNA/RNA binding interface disrupted in Rett syndrome.Nucleic acids research · 2026Article
- ASD mutations in the ciliary gene CEP41 impact development of projection neurons and interneurons in a human cortical organoid model.Molecular psychiatry · 2026Article
- Dysregulated DNA Methylation inInternational journal of molecular sciences · 2025Article
- Exploring Ciliary Mechanisms in the Causation of Hydrocephalus in Humans-Similarities and Differences from Animal Models.Journal of molecular neuroscience : MN · 2025Review
- Ciliary biology intersects autism and congenital heart disease.Development (Cambridge, England) · 2025Article
- Cilia at the crossroad: convergence of regulatory mechanisms to govern cilia dynamics during cell signaling and the cell cycle.Cell & bioscience · 2025Review
- Clinical-grade intranasal NGF fuels neurological and metabolic functions of Mecp2-deficient mice.Brain : a journal of neurology · 2025Article
- Convergence of autism proteins at the cilium.bioRxiv : the preprint server for biology · 2025Article
- Rett Syndrome: Thinking Beyond Brain Borders.Advances in experimental medicine and biology · 2025Review
- Neural precursor cells rescue symptoms of Rett syndrome by activation of the Interferon γ pathway.EMBO molecular medicine · 2024Article
- Unraveling autophagic imbalances and therapeutic insights in Mecp2-deficient models.EMBO molecular medicine · 2024Article
- GM1 Oligosaccharide Ameliorates Rett Syndrome Phenotypes In Vitro and In Vivo via Trk Receptor Activation.International journal of molecular sciences · 2024Article
- GDF15 controls primary cilia morphology and function thereby affecting progenitor proliferation.Life science alliance · 2024Article
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- Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials.Brain sciences · 2024Review
- Analysis of the interplay between MeCP2 and histone H1 duringEpigenetics · 2023Article
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- A Novel Genetic Variant inInternational journal of molecular sciences · 2023Article
- Advanced genetic therapies for the treatment of Rett syndrome: state of the art and future perspectives.Frontiers in neuroscience · 2023Review
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
Mutations in MECP2 cause several neurological disorders of which Rett syndrome (RTT) represents the best-defined condition. Although mainly working as a transcriptional repressor, MeCP2 is a multifunctional protein revealing several activities, the involvement of which in RTT remains obscure. Besides being mainly localized in the nucleus, MeCP2 associates with the centrosome, an organelle from which primary cilia originate. Primary cilia function as "sensory antennae" protruding from most cells, and a link between primary cilia and mental illness has recently been reported. We herein demonstrate that MeCP2 deficiency affects ciliogenesis in cultured cells, including neurons and RTT fibroblasts, and in the mouse brain. Consequently, the cilium-related Sonic Hedgehog pathway, which is essential for brain development and functioning, is impaired. Microtubule instability participates in these phenotypes that can be rescued by HDAC6 inhibition together with the recovery of RTT-related neuronal defects. Our data indicate defects of primary cilium as a novel pathogenic mechanism that by contributing to the clinical features of RTT might impact on proper cerebellum/brain development and functioning, thus providing a novel therapeutic target.
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Registered trials
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.