{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T22:25:56Z","timestamp":1792016756466,"version":"4.4.0"},"reference-count":209,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T00:00:00Z","timestamp":1625011200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007706","name":"Ministero dello Sviluppo Economico","doi-asserted-by":"publisher","award":["FESR F\/050011\/01-02\/X32"],"award-info":[{"award-number":["FESR F\/050011\/01-02\/X32"]}],"id":[{"id":"10.13039\/501100007706","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010787","name":"Associazione Italiana Rett","doi-asserted-by":"publisher","award":["National Grant 2019"],"award-info":[{"award-number":["National Grant 2019"]}],"id":[{"id":"10.13039\/100010787","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>Rett syndrome (RTT) is an extremely invalidating, cureless, developmental disorder, and it is considered one of the leading causes of intellectual disability in female individuals. The vast majority of RTT cases are caused by de novo mutations in the X-linked Methyl-CpG binding protein 2 (MECP2) gene, which encodes a multifunctional reader of methylated DNA. MeCP2 is a master epigenetic modulator of gene expression, with a role in the organization of global chromatin architecture. Based on its interaction with multiple molecular partners and the diverse epigenetic scenario, MeCP2 triggers several downstream mechanisms, also influencing the epigenetic context, and thus leading to transcriptional activation or repression. In this frame, it is conceivable that defects in such a multifaceted factor as MeCP2 lead to large-scale alterations of the epigenome, ranging from an unbalanced deposition of epigenetic modifications to a transcriptional alteration of both protein-coding and non-coding genes, with critical consequences on multiple downstream biological processes. In this review, we provide an overview of the current knowledge concerning the transcriptomic and epigenomic alterations found in RTT patients and animal models.<\/jats:p>","DOI":"10.3390\/biom11070967","type":"journal-article","created":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T10:03:19Z","timestamp":1625047399000},"page":"967","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Transcriptomic and Epigenomic Landscape in Rett Syndrome"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0224-8870","authenticated-orcid":false,"given":"Domenico","family":"Marano","sequence":"first","affiliation":[{"name":"Institute of Genetics and Biophysics \u2018A. Buzzati-Traverso\u2019, CNR, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1345-4434","authenticated-orcid":false,"given":"Salvatore","family":"Fioriniello","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u2018A. Buzzati-Traverso\u2019, CNR, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4783-7572","authenticated-orcid":false,"given":"Maurizio","family":"D\u2019Esposito","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u2018A. Buzzati-Traverso\u2019, CNR, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1643-6418","authenticated-orcid":false,"given":"Floriana","family":"Della Ragione","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u2018A. Buzzati-Traverso\u2019, CNR, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,6,30]]},"reference":[{"key":"ref_1","first-page":"723","article-title":"On a unusual brain atrophy syndrome in hyperammonemia in childhood","volume":"116","author":"Rett","year":"1966","journal-title":"Wien. Med. Wochenschr."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1111\/j.1651-2227.1985.tb10993.x","article-title":"Rett\u2019s syndrome: Prevalence and impact on progressive severe mental retardation in girls","volume":"74","author":"Hagberg","year":"1985","journal-title":"Acta Paediatr. 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