Rett syndrome and MeCP2.
paper
Cited
Public
Unavailable
- Authors
- Liyanage, Vichithra R B; Rastegar, Mojgan
- Year
- 2014
- Journal
- Neuromolecular medicine
- PMID
- 24615633
- DOI
- 10.1007/s12017-014-8295-9
- PMCID
- PMC5798978
Rett syndrome (RTT) is a severe and progressive neurological disorder, which mainly affects young females. Mutations of the methyl-CpG binding protein 2 (MECP2) gene are the most prevalent cause of classical RTT cases. MECP2 mutations or altered expression are also associated with a spectrum of neurodevelopmental disorders such as autism spectrum disorders with recent links to fetal alcohol spectrum disorders. Collectively, MeCP2 relation to these neurodevelopmental disorders highlights the importance of understanding the molecular mechanisms by which MeCP2 impacts brain development, mental conditions, and compromised brain function. Since MECP2 mutations were discovered to be the primary cause of RTT, a significant progress has been made in the MeCP2 research, with respect to the expression, function and regulation of MeCP2 in the brain and its contribution in RTT pathogenesis. To date, there have been intensive efforts in designing effective therapeutic strategies for RTT benefiting from mouse models and cells collected from RTT patients. Despite significant progress in MeCP2 research over the last few decades, there is still a knowledge gap between the in vitro and in vivo research findings and translating these findings into effective therapeutic interventions in human RTT patients. In this review, we will provide a synopsis of Rett syndrome as a severe neurological disorder and will discuss the role of MeCP2 in RTT pathophysiology.
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External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| A compact and inducible dCas12f-based CRISPRa platform for programmable in vivo gene activation. | Wan H et al. | β | 2026 | β |
| Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndrome. | Liang Q et al. | β | 2026 | β |
| Epigenetic Editing in Neurological and Neuropsychiatric Disorders: Pioneering Next-Gen Therapeutics for Precision Gene Control. | Marei HE | β | 2025 | β |
| Exploring the Genetic Role of MECP2 Mutations on Phenotypic Presentation in Males: A Case Report. | Aslam H et al. | β | 2025 | β |
| <i>MECP2</i> mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping. | Mietto M et al. | β | 2025 | β |
| Neuronal Plasticity-Dependent Paradigm and Young Plasma Treatment Prevent Synaptic and Motor Deficit in a Rett Syndrome Mouse Model. | Espinoza S et al. | β | 2025 | β |
| Noonan Syndrome and Rett Syndrome in An 8-Year-Old Girl With A Tectal Neoplasm. | Shetty N et al. | β | 2025 | β |
| Revolutionizing DNA: advanced modification techniques for next-gen nanotechnology. | Panda P et al. | β | 2025 | β |
| The Management of Bone Defects in Rett Syndrome. | Caffarelli C et al. | β | 2025 | β |
| The methyl-CpG-binding protein 2 (Mecp2) regulates the hypothalamic mitochondrial function and white adipose tissue lipid metabolism. | Llontop N et al. | β | 2025 | β |
| Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation. | Poleg T et al. | β | 2025 | β |
| Valeric Acid: A Gut-Derived Metabolite as a Potential Epigenetic Modulator of Neuroinflammation in the Gut-Brain Axis. | Paciolla C et al. | β | 2025 | β |
| X-inactive specific transcript (XIST) can determine sex differences in cardiovascular drug responses: focus on RNA therapeutics. | Yarovinsky TO et al. | β | 2025 | β |
| A 10-Year Review on Advancements in Identifying and Treating Intellectual Disability Caused by Genetic Variations. | Hou K et al. | β | 2024 | β |
| A meta-analysis of the efficacy and safety of trofinetide in patients with rett syndrome. | Abo Zeid M et al. | β | 2024 | β |
| An ambulatory dental treatment of a child with Rett syndrome and limited mouth opening under muscle relaxant-free general anesthesia: a case report. | Tan X et al. | β | 2024 | β |
| Antisense oligonucleotides as a precision therapy for developmental and epileptic encephalopathies. | QuilΓ³n PG et al. | β | 2024 | β |
| Characterization of a novel variant in KCNJ16, encoding K<sub>ir</sub>5.1 channel. | Xu B et al. | β | 2024 | β |
| Decoding the genetic landscape of autism: A comprehensive review. | Al-Beltagi M et al. | β | 2024 | β |
| Developmental change of brain volume in Rett syndrome in Taiwan. | Jan TY et al. | β | 2024 | β |
| Epigenetics in rare neurological diseases. | Roberts CT et al. | β | 2024 | β |
| Genetic Instability and Disease Progression of Indian Rett Syndrome Patients. | Gomathi M et al. | β | 2024 | β |
| <i>MECP2</i> Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables. | Vega-Hanna L et al. | β | 2024 | β |
| MeCP2 gene therapy ameliorates disease phenotype in mouse model for Pitt Hopkins syndrome. | Dennys CN et al. | β | 2024 | β |
| Molecular Mechanisms of Rett Syndrome: Emphasizing the Roles of Monoamine, Immunity, and Mitochondrial Dysfunction. | GonΓ§alez JL et al. | β | 2024 | β |
| Molecular signatures in Mendelian neurodevelopment: a focus on ubiquitination driven DNA methylation aberrations. | van der Laan L et al. | β | 2024 | β |
| Mutuality of epigenetic and nanoparticles: two sides of a coin. | Sanei M et al. | β | 2024 | β |
| Profile of Trofinetide in the Treatment of Rett Syndrome: Design, Development and Potential Place in Therapy. | Camillo L et al. | β | 2024 | β |
| Reprogramming the future: Capitalizing on <i>in vitro</i> embryo culture by advancing stem cell technologies in the fight against rare genetic disorders. | Li L et al. | β | 2024 | β |
| Forensically relevant challenging behaviors and the genetics domain. | Egger JIM et al. | β | 2023 | β |
| Gut microbiome at the crossroad of genetic variants and behavior disorders. | Cheng L et al. | β | 2023 | β |
| Maternal Diabetes Deregulates the Expression of Mecp2 via miR-26b-5p in Mouse Embryonic Neural Stem Cells. | Shyamasundar S et al. | β | 2023 | β |
| MeCP2 Is an Epigenetic Factor That Links DNA Methylation with Brain Metabolism. | Vuu YM et al. | β | 2023 | β |
| Neuronal MeCP2 in the dentate gyrus regulates mossy fiber sprouting of mice with temporal lobe epilepsy. | Chen Y et al. | β | 2023 | β |
| PAM-flexible genome editing with an engineered chimeric Cas9. | Zhao L et al. | β | 2023 | β |
| Rett and Rett-related disorders: Common mechanisms for shared symptoms? | D'Mello SR | β | 2023 | β |
| The Central Noradrenergic System in Neurodevelopmental Disorders: Merging Experimental and Clinical Evidence. | Galgani A et al. | β | 2023 | β |
| The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies. | Grether A et al. | β | 2023 | β |
| A Review of Molecular Interplay between Neurotrophins and miRNAs in Neuropsychological Disorders. | Abdolahi S et al. | β | 2022 | β |
| Delayed Ventricular Repolarization and Sodium Channel Current Modification in a Mouse Model of Rett Syndrome. | Cheng H et al. | β | 2022 | β |
| Differential Sensitivity of the Protein Translation Initiation Machinery and mTOR Signaling to <i>MECP2</i> Gain- and Loss-of-Function Involves MeCP2 Isoform-Specific Homeostasis in the Brain. | Buist M et al. | β | 2022 | β |
| Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders. | Krgovic D et al. | β | 2022 | β |
| Isogenic Human-Induced Pluripotent Stem-Cell-Derived Cardiomyocytes Reveal Activation of Wnt Signaling Pathways Underlying Intrinsic Cardiac Abnormalities in Rett Syndrome. | Ng KM et al. | β | 2022 | β |
| Microglia and Neurodevelopmental Disorders. | Lukens JR et al. | β | 2022 | β |
| New Insights into TETs in Psychiatric Disorders. | Zhan W et al. | β | 2022 | β |
| QT<sub>c</sub> interval and ventricular action potential prolongation in the Mecp2<sup>Null/+</sup> murine model of Rett syndrome. | Cheng H et al. | β | 2022 | β |
| R306X Mutation in the <i>MECP2</i> Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report. | Bouzroud W et al. | β | 2022 | β |
| The Cell Adhesion Molecule L1 Interacts with Methyl CpG Binding Protein 2 via Its Intracellular Domain. | Loers G et al. | β | 2022 | β |
| The Chromatin Structure at the <i>MECP2</i> Gene and In Silico Prediction of Potential Coding and Non-Coding <i>MECP2</i> Splice Variants. | Shevkoplyas D et al. | β | 2022 | β |
| The evolution of knowledge on genes associated with human diseases. | LΓΌscher-Dias T et al. | β | 2022 | β |
| Altered Bone Status in Rett Syndrome. | Pecorelli A et al. | β | 2021 | β |
| Expanding the MECP2 network using comparative genomics reveals potential therapeutic targets for Rett syndrome. | Unterman I et al. | β | 2021 | β |
| Induction of long-term potentiation at Schaffer collateral-CA1 synapses in mice hippocampus after IMPX977 administration. | Song N et al. | β | 2021 | β |
| Interregulation between fragile X mental retardation protein and methyl CpG binding protein 2 in the mouse posterior cerebral cortex. | Arsenault J et al. | β | 2021 | β |
| MeCP2: The Genetic Driver of Rett Syndrome Epigenetics. | Good KV et al. | β | 2021 | β |
| Modeling Rett Syndrome with Human Pluripotent Stem Cells: Mechanistic Outcomes and Future Clinical Perspectives. | Gomes AR et al. | β | 2021 | β |
| Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models. | Haase FD et al. | β | 2021 | β |
| Reciprocal control of translation and transcription in autism spectrum disorder. | Longo F et al. | β | 2021 | β |
| Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease. | Pejhan S et al. | β | 2021 | β |
| Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders. | Xiol C et al. | β | 2021 | β |
| The evolution of knowledge on genes associated with human diseases | LΓΌscher-Dias T et al. | β | 2021 | β |
| Transcriptional Regulation of <i>MECP2E1-E2</i> Isoforms and <i>BDNF</i> by Metformin and Simvastatin through Analyzing Nascent RNA Synthesis in a Human Brain Cell Line. | Buist M et al. | β | 2021 | β |
| What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective. | Blatnik AJ et al. | β | 2021 | β |
| Challenges of BDNF-based therapies: From common to rare diseases. | Miranda-LourenΓ§o C et al. | β | 2020 | β |
| Chronic Ethanol Exposure Alters DNA Methylation in Neural Stem Cells: Role of Mouse Strain and Sex. | Amiri S et al. | β | 2020 | β |
| Codon and amino acid content are associated with mRNA stability in mammalian cells. | Forrest ME et al. | β | 2020 | β |
| Comprehensive Analysis of GABA<sub>A</sub>-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease. | Oyarzabal A et al. | β | 2020 | β |
| CUL3 Deficiency Causes Social Deficits and Anxiety-like Behaviors by Impairing Excitation-Inhibition Balance through the Promotion of Cap-Dependent Translation. | Dong Z et al. | β | 2020 | β |
| Differential brain region-specific expression of MeCP2 and BDNF in Rett Syndrome patients: a distinct grey-white matter variation. | Pejhan S et al. | β | 2020 | β |
| Drug Studies on Rett Syndrome: From Bench to Bedside. | Gomathi M et al. | β | 2020 | β |
| Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review. | Fonzo M et al. | β | 2020 | β |
| Fingolimod as a Treatment in Neurologic Disorders Beyond Multiple Sclerosis. | BascuΓ±ana P et al. | β | 2020 | β |
| Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling. | Miranda-LourenΓ§o C et al. | β | 2020 | β |
| Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes. | Ehrhart F et al. | β | 2020 | β |
| Molecular characterization of Spanish patients with MECP2 duplication syndrome. | Pascual-Alonso A et al. | β | 2020 | β |
| State of the Art of Genetic Testing for Patients With Autism: A Practical Guide for Clinicians. | Kreiman BL et al. | β | 2020 | β |
| The MeCP2E1/E2-BDNF-<i>miR132</i> Homeostasis Regulatory Network Is Region-Dependent in the Human Brain and Is Impaired in Rett Syndrome Patients. | Pejhan S et al. | β | 2020 | β |
| Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis. | Gu Y et al. | β | 2020 | β |
| Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis. | Vidal S et al. | β | 2019 | β |
| Cultural Adaptation and Psychometric Properties of the Persian Version of the Affordance in the Home Environment for Motor Development. | Kavousipor S et al. | β | 2019 | β |
| Diverse and dynamic DNA modifications in brain and diseases. | Armstrong MJ et al. | β | 2019 | β |
| DNA methylation inhibitor attenuates polyglutamine-induced neurodegeneration by regulating Hes5. | Kondo N et al. | β | 2019 | β |
| Down syndrome: Neurobiological alterations and therapeutic targets. | Vacca RA et al. | β | 2019 | β |
| Genetic Analysis of <i>MECP2</i> Gene in Iranian Patients with Rett Syndrome. | Nasiri J et al. | β | 2019 | β |
| Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome. | Kahanovitch U et al. | β | 2019 | β |
| Potent hERG channel inhibition by sarizotan, an investigative treatment for Rett Syndrome. | Cheng H et al. | β | 2019 | β |
| X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients. | Xiol C et al. | β | 2019 | β |
| <i>MECP2</i> Mutation Interrupts Nucleolin-mTOR-P70S6K Signaling in Rett Syndrome Patients. | Olson CO et al. | β | 2018 | β |
| Intestinal Candida parapsilosis isolates from Rett syndrome subjects bear potential virulent traits and capacity to persist within the host. | Strati F et al. | β | 2018 | β |
| The sphingosine 1-phosphate receptor modulator fingolimod as a therapeutic agent: Recent findings and new perspectives. | Huwiler A et al. | β | 2018 | β |
| Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk. | McKenna B et al. | β | 2018 | β |
| DNA methylation regulated gene expression in organ fibrosis. | Zhang X et al. | β | 2017 | β |
| Golgi trafficking defects in postnatal microcephaly: The evidence for "Golgipathies". | Passemard S et al. | β | 2017 | β |
| MeCP2-deficient mice have reduced Ξ±4 and Ξ±6 nicotinic receptor mRNA and altered behavioral response to nicotinic agonists. | Leung J et al. | β | 2017 | β |
| Altered gut microbiota in Rett syndrome. | Strati F et al. | β | 2016 | β |
| Bioinformatic Analysis of DNA Methylation in Neural Progenitor Cell Models of Alcohol Abuse. | Oni EN et al. | β | 2016 | β |
| Characterization of Rett Syndrome-like phenotypes in Mecp2-knockout rats. | Wu Y et al. | β | 2016 | β |
| Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes. | Ehrhart F et al. | β | 2016 | β |
| Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands. | Bueno C et al. | β | 2016 | β |
| Spinal Fusion for Scoliosis in Rett Syndrome With an Emphasis on Respiratory Failure and Opioid Usage. | Rumbak DM et al. | β | 2016 | β |
| The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. | SchΓΆnewolf-Greulich B et al. | β | 2016 | β |
| Therapeutic Potential of Transcranial Focused Ultrasound for Rett Syndrome. | Tsai SJ | β | 2016 | β |
| Epigenetic mechanisms: A possible link between autism spectrum disorders and fetal alcohol spectrum disorders. | Varadinova M et al. | β | 2015 | β |
| Ethanol deregulates Mecp2/MeCP2 in differentiating neural stem cells via interplay between 5-methylcytosine and 5-hydroxymethylcytosine at the Mecp2 regulatory elements. | Liyanage VR et al. | β | 2015 | β |
| Genetic Determinants of Epigenetic Patterns: Providing Insight into Disease. | Cazaly E et al. | β | 2015 | β |
| [Molecular mechanism in Rett syndrome]. | Miyake K et al. | β | 2015 | β |
| SIRT1 in the brain-connections with aging-associated disorders and lifespan. | Ng F et al. | β | 2015 | β |
| Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction. | Weissman J et al. | β | 2014 | β |
| Cellular commitment in the developing cerebellum. | Marzban H et al. | β | 2014 | β |
| DNA modifications: function and applications in normal and disease States. | Liyanage VR et al. | β | 2014 | β |