{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T05:38:51Z","timestamp":1783489131424,"version":"3.55.0"},"reference-count":63,"publisher":"Wiley","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/100010787","name":"Associazione Italiana Rett","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100010787","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mediators of Inflammation"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>Rett syndrome (RTT) is mainly caused by mutations in the X-linked methyl-CpG binding protein (<jats:italic>MeCP2<\/jats:italic>) gene. By binding to methylated promoters on CpG islands, MeCP2 protein is able to modulate several genes and important cellular pathways. Therefore, mutations in<jats:italic>MeCP2<\/jats:italic>can seriously affect the cellular phenotype. Today, the pathways that<jats:italic>MeCP2<\/jats:italic>mutations are able to affect in RTT are not clear yet. The aim of our study was to investigate the gene expression profiles in peripheral blood lymphomonocytes (PBMC) isolated from RTT patients to try to evidence new genes and new pathways that are involved in RTT pathophysiology. LIMMA (Linear Models for MicroArray) and SAM (Significance Analysis of Microarrays) analyses on microarray data from 12 RTT patients and 7 control subjects identified 482 genes modulated in RTT, of which 430 were upregulated and 52 were downregulated. Functional clustering of a total of 146 genes in RTT identified key biological pathways related to mitochondrial function and organization, cellular ubiquitination and proteosome degradation, RNA processing, and chromatin folding. Our microarray data reveal an overexpression of genes involved in ATP synthesis suggesting altered energy requirement that parallels with increased activities of protein degradation. In conclusion, these findings suggest that mitochondrial-ATP-proteasome functions are likely to be involved in RTT clinical features.<\/jats:p>","DOI":"10.1155\/2013\/137629","type":"journal-article","created":{"date-parts":[[2013,12,12]],"date-time":"2013-12-12T21:01:29Z","timestamp":1386882089000},"page":"1-18","source":"Crossref","is-referenced-by-count":62,"title":["Genes Related to Mitochondrial Functions, Protein Degradation, and Chromatin Folding Are Differentially Expressed in Lymphomonocytes of Rett Syndrome Patients"],"prefix":"10.1155","volume":"2013","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5207-068X","authenticated-orcid":true,"given":"Alessandra","family":"Pecorelli","sequence":"first","affiliation":[{"name":"Department of Molecular and Developmental Medicine, University of Siena, 53100 Siena, Italy"},{"name":"Child Neuropsychiatry Unit, University Hospital, Azienda Ospedaliera Universitaria Senese, 53100 Siena, 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