{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T10:50:24Z","timestamp":1790247024756,"version":"4.1.0"},"reference-count":48,"publisher":"Oxford University Press (OUP)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,5,1]]},"DOI":"10.1093\/hmg\/ddv030","type":"journal-article","created":{"date-parts":[[2015,1,30]],"date-time":"2015-01-30T06:50:01Z","timestamp":1422600601000},"page":"2662-2672","source":"Crossref","is-referenced-by-count":68,"title":["Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene"],"prefix":"10.1093","volume":"24","author":[{"given":"Meagan R.","family":"Pitcher","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 A.","family":"Herrera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shelly A.","family":"Buffington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikhail Y.","family":"Kochukov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan K.","family":"Merritt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda R.","family":"Fisher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. Carolyn","family":"Schanen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Costa-Mattioli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey L.","family":"Neul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2015,1,29]]},"reference":[{"key":"key\n\t\t\t\t20170503081427_DDV030C1","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.jpeds.2005.10.037","article-title":"Rett syndrome in Australia: a review of the epidemiology","volume":"148","author":"Laurvick","year":"2006","journal-title":"J. Pediatr."},{"key":"key\n\t\t\t\t20170503081427_DDV030C2","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/13810","article-title":"Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2","volume":"23","author":"Amir","year":"1999","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503081427_DDV030C3","doi-asserted-by":"crossref","first-page":"4886","DOI":"10.1093\/nar\/21.21.4886","article-title":"Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2","volume":"21","author":"Nan","year":"1993","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170503081427_DDV030C4","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1126\/science.1153252","article-title":"MeCP2, a key contributor to neurological disease, activates and represses transcription","volume":"320","author":"Chahrour","year":"2008","journal-title":"Science"},{"key":"key\n\t\t\t\t20170503081427_DDV030C5","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1038\/30764","article-title":"Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex","volume":"393","author":"Nan","year":"1998","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170503081427_DDV030C6","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1038\/561","article-title":"Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription","volume":"19","author":"Jones","year":"1998","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503081427_DDV030C7","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1038\/85899","article-title":"A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome","volume":"27","author":"Guy","year":"2001","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503081427_DDV030C8","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1038\/85906","article-title":"Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice","volume":"27","author":"Chen","year":"2001","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503081427_DDV030C9","doi-asserted-by":"crossref","first-page":"6033","DOI":"10.1073\/pnas.0401626101","article-title":"Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice","volume":"101","author":"Luikenhuis","year":"2004","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170503081427_DDV030C10","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1073\/pnas.0610593104","article-title":"Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2","volume":"104","author":"Giacometti","year":"2007","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170503081427_DDV030C11","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1126\/science.1138389","article-title":"Reversal of neurological defects in a mouse model of Rett syndrome","volume":"315","author":"Guy","year":"2007","journal-title":"Science"},{"key":"key\n\t\t\t\t20170503081427_DDV030C12","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1212\/01.wnl.0000291011.54508.aa","article-title":"Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome","volume":"70","author":"Neul","year":"2008","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170503081427_DDV030C13","doi-asserted-by":"crossref","first-page":"1520","DOI":"10.1086\/302690","article-title":"Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots","volume":"65","author":"Wan","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503081427_DDV030C14","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1126\/science.1697983","article-title":"5-Methylcytosine as an endogenous mutagen in the human LDL receptor and p53 genes","volume":"249","author":"Rideout","year":"1990","journal-title":"Science"},{"key":"key\n\t\t\t\t20170503081427_DDV030C15","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1136\/jmedgenet-2013-102113","article-title":"Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome","volume":"51","author":"Cuddapah","year":"2014","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170503081427_DDV030C16","doi-asserted-by":"crossref","first-page":"444","DOI":"10.3109\/10409238.2012.694846","article-title":"Suppression of premature termination codons as a therapeutic approach","volume":"47","author":"Keeling","year":"2012","journal-title":"Crit. Rev. Biochem. Mol. Biol."},{"key":"key\n\t\t\t\t20170503081427_DDV030C17","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1007\/s00109-002-0363-1","article-title":"Aminoglycoside suppression of a premature stop mutation in a Cftr\u2212\/\u2212 mouse carrying a human CFTR-G542X transgene","volume":"80","author":"Du","year":"2002","journal-title":"J. Mol. Med. (Berl.)"},{"key":"key\n\t\t\t\t20170503081427_DDV030C18","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1172\/JCI7866","article-title":"Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice","volume":"104","author":"Barton-Davis","year":"1999","journal-title":"J. Clin. Invest."},{"key":"key\n\t\t\t\t20170503081427_DDV030C19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.brainres.2007.08.039","article-title":"Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice","volume":"1180","author":"Lawson-Yuen","year":"2007","journal-title":"Brain Res."},{"key":"key\n\t\t\t\t20170503081427_DDV030C20","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/s00109-010-0704-4","article-title":"Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model","volume":"89","author":"Brendel","year":"2011","journal-title":"J. Mol. Med. (Berl.)"},{"key":"key\n\t\t\t\t20170503081427_DDV030C21","doi-asserted-by":"crossref","first-page":"2679","DOI":"10.1093\/hmg\/ddh282","article-title":"Mild overexpression of MeCP2 causes a progressive neurological disorder in mice","volume":"13","author":"Collins","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503081427_DDV030C22","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1016\/j.neuroscience.2007.02.009","article-title":"Behavioral and anatomical abnormalities in Mecp2 mutant mice: a model for Rett syndrome","volume":"146","author":"Stearns","year":"2007","journal-title":"Neuroscience"},{"key":"key\n\t\t\t\t20170503081427_DDV030C23","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1002\/ajmg.1320250528","article-title":"Neuropathology of Rett syndrome","volume":"1","author":"Jellinger","year":"1986","journal-title":"Am. J. Med. Genet. Suppl."},{"key":"key\n\t\t\t\t20170503081427_DDV030C24","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1002\/cne.21673","article-title":"Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome","volume":"508","author":"Belichenko","year":"2008","journal-title":"J. Comp. Neurol."},{"key":"key\n\t\t\t\t20170503081427_DDV030C25","doi-asserted-by":"crossref","first-page":"2626","DOI":"10.1093\/hmg\/ddt111","article-title":"Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function","volume":"22","author":"Pitcher","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503081427_DDV030C26","doi-asserted-by":"crossref","first-page":"10359","DOI":"10.1523\/JNEUROSCI.0057-11.2011","article-title":"MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan","volume":"31","author":"Ward","year":"2011","journal-title":"J. Neurosci."},{"key":"key\n\t\t\t\t20170503081427_DDV030C27","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1126\/science.1585183","article-title":"Modality-specific retrograde amnesia of fear","volume":"256","author":"Kim","year":"1992","journal-title":"Science"},{"key":"key\n\t\t\t\t20170503081427_DDV030C28","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1093\/hmg\/dds406","article-title":"Female Mecp2(+\/\u2212) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies","volume":"22","author":"Samaco","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503081427_DDV030C29","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1523\/JNEUROSCI.2623-05.2006","article-title":"Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome","volume":"26","author":"Moretti","year":"2006","journal-title":"J. Neurosci."},{"key":"key\n\t\t\t\t20170503081427_DDV030C30","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1146\/annurev-neuro-071013-014100","article-title":"Translational control in synaptic plasticity and cognitive dysfunction","volume":"37","author":"Buffington","year":"2014","journal-title":"Annu. Rev. Neurosci."},{"key":"key\n\t\t\t\t20170503081427_DDV030C31","doi-asserted-by":"crossref","first-page":"3791","DOI":"10.1073\/pnas.1014715108","article-title":"Selective pharmacogenetic inhibition of mammalian target of Rapamycin complex I (mTORC1) blocks long-term synaptic plasticity and memory storage","volume":"108","author":"Stoica","year":"2011","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170503081427_DDV030C32","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.nlm.2007.09.002","article-title":"Macromolecular synthesis, distributed synaptic plasticity, and fear conditioning","volume":"89","author":"Helmstetter","year":"2008","journal-title":"Neurobiol. Learn. Mem."},{"key":"key\n\t\t\t\t20170503081427_DDV030C33","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1002\/hipo.22140","article-title":"Memory accuracy predicts hippocampal mTOR pathway activation following retrieval of contextual fear memory","volume":"23","author":"Gafford","year":"2013","journal-title":"Hippocampus"},{"key":"key\n\t\t\t\t20170503081427_DDV030C34","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/j.tibs.2006.04.003","article-title":"Ribosomal protein S6 phosphorylation: from protein synthesis to cell size","volume":"31","author":"Ruvinsky","year":"2006","journal-title":"Trends Biochem. Sci."},{"key":"key\n\t\t\t\t20170503081427_DDV030C35","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1016\/j.stem.2013.09.001","article-title":"Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons","volume":"13","author":"Li","year":"2013","journal-title":"Cell Stem Cell"},{"key":"key\n\t\t\t\t20170503081427_DDV030C36","doi-asserted-by":"crossref","first-page":"e20733","DOI":"10.1371\/journal.pone.0020733","article-title":"Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations","volume":"6","author":"Vecsler","year":"2011","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170503081427_DDV030C37","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1038\/nn.2997","article-title":"Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses","volume":"15","author":"Goffin","year":"2011","journal-title":"Nat. Neurosci."},{"key":"key\n\t\t\t\t20170503081427_DDV030C38","doi-asserted-by":"crossref","first-page":"e67724","DOI":"10.1371\/journal.pone.0067724","article-title":"Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356x mutation in synapsin I","volume":"8","author":"Giannandrea","year":"2013","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170503081427_DDV030C39","doi-asserted-by":"crossref","first-page":"1537","DOI":"10.1038\/nn.3546","article-title":"mTOR complexes in neurodevelopmental and neuropsychiatric disorders","volume":"16","author":"Costa-Mattioli","year":"2013","journal-title":"Nat. Neurosci."},{"key":"key\n\t\t\t\t20170503081427_DDV030C40","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1038\/ncb839","article-title":"TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling","volume":"4","author":"Inoki","year":"2002","journal-title":"Nat. Cell Biol."},{"key":"key\n\t\t\t\t20170503081427_DDV030C41","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/j.neuron.2005.12.027","article-title":"The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression","volume":"49","author":"Chang","year":"2006","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170503081427_DDV030C42","doi-asserted-by":"crossref","first-page":"2029","DOI":"10.1073\/pnas.0812394106","article-title":"Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice","volume":"106","author":"Tropea","year":"2009","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170503081427_DDV030C43","doi-asserted-by":"crossref","first-page":"9941","DOI":"10.1073\/pnas.1311685111","article-title":"Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome","volume":"111","author":"Castro","year":"2014","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170503081427_DDV030C44","doi-asserted-by":"crossref","first-page":"1718","DOI":"10.1093\/hmg\/ddn062","article-title":"A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome","volume":"17","author":"Samaco","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503081427_DDV030C45","doi-asserted-by":"crossref","first-page":"10359","DOI":"10.1523\/JNEUROSCI.0057-11.2011","article-title":"MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan","volume":"31","author":"Ward","year":"2011","journal-title":"J. Neurosci."},{"key":"key\n\t\t\t\t20170503081427_DDV030C46","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.expneurol.2014.03.014","article-title":"Early-life seizures result in deficits in social behavior and learning","volume":"256","author":"Lugo","year":"2014","journal-title":"Exp. Neurol."},{"key":"key\n\t\t\t\t20170503081427_DDV030C47","doi-asserted-by":"crossref","first-page":"113ra125","DOI":"10.1126\/scitranslmed.3002982","article-title":"Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome","volume":"3","author":"McCauley","year":"2011","journal-title":"Sci. Transl. Med."},{"key":"key\n\t\t\t\t20170503081427_DDV030C48","first-page":"3854","article-title":"Preparation of mouse embryonic fibroblast cells suitable for culturing human embryonic and induced pluripotent stem cells","volume":"64","author":"Jozefczuk","year":"2012","journal-title":"J. Vis. Exp."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/24\/9\/2662\/14147312\/ddv030.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,20]],"date-time":"2019-08-20T09:50:12Z","timestamp":1566294612000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddv030"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,29]]},"references-count":48,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2015,1,29]]},"published-print":{"date-parts":[[2015,5,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddv030","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1,29]]}}}