{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T09:47:49Z","timestamp":1770716869254,"version":"3.49.0"},"reference-count":74,"publisher":"Wiley","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RF-TOS-2008-1225570"],"award-info":[{"award-number":["RF-TOS-2008-1225570"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oxidative Medicine and Cellular Longevity"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>Evidence of oxidative stress has been reported in the blood of patients with Rett syndrome (RTT), a neurodevelopmental disorder mainly caused by mutations in the gene encoding the Methyl-CpG-binding protein 2. Little is known regarding the redox status in RTT cellular systems and its relationship with the morphological phenotype. In RTT patients (<jats:italic>n<\/jats:italic>= 16) we investigated four different oxidative stress markers, F<jats:sub>2<\/jats:sub>-Isoprostanes (F<jats:sub>2<\/jats:sub>-IsoPs), F<jats:sub>4<\/jats:sub>-Neuroprostanes (F<jats:sub>4<\/jats:sub>-NeuroPs), nonprotein bound iron (NPBI), and (4-HNE PAs), and glutathione in one of the most accessible cells,<jats:italic>that is<\/jats:italic>, skin fibroblasts, and searched for possible changes in cellular\/intracellular structure and qualitative modifications of synthesized collagen. Significantly increased F<jats:sub>4<\/jats:sub>-NeuroPs (12-folds), F<jats:sub>2<\/jats:sub>-IsoPs (7.5-folds) NPBI (2.3-folds), 4-HNE PAs (1.48-folds), and GSSG (1.44-folds) were detected, with significantly decreased GSH (\u221243.6%) and GSH\/GSSG ratio (\u22123.05 folds). A marked dilation of the rough endoplasmic reticulum cisternae, associated with several cytoplasmic multilamellar bodies, was detectable in RTT fibroblasts. Colocalization of collagen I and collagen III, as well as the percentage of type I collagen as derived by semiquantitative immunofluorescence staining analyses, appears to be significantly reduced in RTT cells. Our findings indicate the presence of a redox imbalance and previously unrecognized morphological skin fibroblast abnormalities in RTT patients.<\/jats:p>","DOI":"10.1155\/2014\/195935","type":"journal-article","created":{"date-parts":[[2014,5,29]],"date-time":"2014-05-29T21:03:48Z","timestamp":1401397428000},"page":"1-10","source":"Crossref","is-referenced-by-count":52,"title":["Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome"],"prefix":"10.1155","volume":"2014","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0006-9414","authenticated-orcid":true,"given":"Cinzia","family":"Signorini","sequence":"first","affiliation":[{"name":"Department of Molecular and Developmental Medicine, University of Siena, 53100 Siena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7027-1207","authenticated-orcid":true,"given":"Silvia","family":"Leoncini","sequence":"additional","affiliation":[{"name":"Department of Molecular and Developmental Medicine, University of Siena, 53100 Siena, Italy"},{"name":"Child Neuropsychiatry Unit, University Hospital Azienda Ospedaliera Universitaria Senese (AOUS), 53100 Siena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9881-3119","authenticated-orcid":true,"given":"Claudio","family":"De Felice","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, University Hospital AOUS, Policlinico \u201cS. 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