{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T05:39:49Z","timestamp":1783489189082,"version":"3.55.0"},"reference-count":46,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100004710","name":"Fondazione Umberto Veronesi","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004710","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Archives of Biochemistry and Biophysics"],"published-print":{"date-parts":[[2021,3]]},"DOI":"10.1016\/j.abb.2021.108790","type":"journal-article","created":{"date-parts":[[2021,2,4]],"date-time":"2021-02-04T15:30:57Z","timestamp":1612452657000},"page":"108790","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":34,"special_numbering":"C","title":["Impaired mitochondrial quality control in Rett Syndrome"],"prefix":"10.1016","volume":"700","author":[{"given":"Ilaria","family":"Crivellari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Pecorelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2791-8121","authenticated-orcid":false,"given":"Valeria","family":"Cordone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saverio","family":"Marchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Pinton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joussef","family":"Hayek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Cervellati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Valacchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.abb.2021.108790_bib1","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1097\/00005072-199708000-00001","article-title":"Review of rett syndrome","volume":"56","author":"Armstrong","year":"1997","journal-title":"JNEN (J. Neuropathol. Exp. Neurol.)"},{"key":"10.1016\/j.abb.2021.108790_bib2","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/ana.410140412","article-title":"A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: rett's syndrome: report of 35 cases","volume":"14","author":"Hagberg","year":"1983","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.abb.2021.108790_bib3","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":"10.1016\/j.abb.2021.108790_bib4","first-page":"723","article-title":"[On a unusual brain atrophy syndrome in hyperammonemia in childhood]","volume":"116","author":"Rett","year":"1946","journal-title":"Wien Med. Wochenschr."},{"key":"10.1016\/j.abb.2021.108790_bib5","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":"10.1016\/j.abb.2021.108790_bib6","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1242\/dmm.011007","article-title":"Preclinical research in Rett syndrome: setting the foundation for translational success","volume":"5","author":"Pozzo-Miller","year":"2012","journal-title":"Dis. Models Mech."},{"key":"10.1016\/j.abb.2021.108790_bib7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fncel.2017.00058","article-title":"Mitochondrial dysfunction in the pathogenesis of rett syndrome: implications for mitochondria-targeted therapies","volume":"11","author":"Shulyakova","year":"2017","journal-title":"Front. Cell. Neurosci."},{"key":"10.1016\/j.abb.2021.108790_bib8","doi-asserted-by":"crossref","DOI":"10.1016\/j.freeradbiomed.2020.05.014","article-title":"Proteomic profiling reveals mitochondrial alterations in Rett syndrome","author":"Cicaloni","year":"2020","journal-title":"Free Radic. Biol. Med."},{"key":"10.1016\/j.abb.2021.108790_bib9","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/j.biocel.2016.07.015","article-title":"OxInflammation in rett syndrome","volume":"81","author":"Pecorelli","year":"2016","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.abb.2021.108790_bib10","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.cyto.2015.10.002","article-title":"Cytokines profile and peripheral blood mononuclear cells morphology in Rett and autistic patients","volume":"77","author":"Pecorelli","year":"2016","journal-title":"Cytokine"},{"key":"10.1016\/j.abb.2021.108790_bib11","doi-asserted-by":"crossref","DOI":"10.1155\/2012\/329635","article-title":"Mitochondria-ros crosstalk in the control of cell death and aging","author":"Marchi","year":"2012","journal-title":"J. Signal Trans."},{"key":"10.1016\/j.abb.2021.108790_bib12","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.tibs.2012.02.004","article-title":"Mitochondrial quality control: an integrated network of pathways","volume":"37","author":"Fischer","year":"2012","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.abb.2021.108790_bib13","doi-asserted-by":"crossref","first-page":"2533","DOI":"10.1242\/jcs.070490","article-title":"New insights into the role of mitochondria in aging: mitochondrial dynamics and more","volume":"123","author":"Seo","year":"2010","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.abb.2021.108790_bib14","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1242\/jcs.093849","article-title":"PINK1- and Parkin-mediated mitophagy at a glance","volume":"125","author":"Jin","year":"2012","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.abb.2021.108790_bib15","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/j.bbagen.2011.08.001","article-title":"Mitochondria and autophagy: critical interplay between the two homeostats","volume":"1820","author":"Okamoto","year":"2012","journal-title":"Biochim. Biophys. Acta Gen. Subj."},{"key":"10.1016\/j.abb.2021.108790_bib16","author":"Twig"},{"key":"10.1016\/j.abb.2021.108790_bib17","doi-asserted-by":"crossref","first-page":"2802","DOI":"10.1016\/j.bbamcr.2014.12.041","article-title":"Mitochondrial quality control: easy come, easy go","volume":"1853","author":"Stotland","year":"2015","journal-title":"Biochim. Biophys. Acta Mol. Cell Res."},{"key":"10.1016\/j.abb.2021.108790_bib18","doi-asserted-by":"crossref","first-page":"299","DOI":"10.5483\/BMBRep.2017.50.6.056","article-title":"Emerging role of mitophagy in human diseases and physiology","volume":"50","author":"Um","year":"2017","journal-title":"BMB Rep."},{"key":"10.1016\/j.abb.2021.108790_bib19","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1146\/annurev-immunol-042617-053010","article-title":"Apoptosis and clearance of apoptotic cells","volume":"36","author":"Nagata","year":"2018","journal-title":"Annu. Rev. Immunol."},{"key":"10.1016\/j.abb.2021.108790_bib20","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1146\/annurev.pharmtox.41.1.367","article-title":"Cellular responses to DNA damage","volume":"41","author":"Norbury","year":"2001","journal-title":"Annu. Rev. Pharmacol. Toxicol."},{"key":"10.1016\/j.abb.2021.108790_bib21","doi-asserted-by":"crossref","first-page":"330","DOI":"10.18632\/aging.100459","article-title":"Role of apoptosis in disease","volume":"4","author":"Favaloro","year":"2012","journal-title":"Aging"},{"key":"10.1016\/j.abb.2021.108790_bib22","doi-asserted-by":"crossref","first-page":"2066","DOI":"10.1016\/j.bbadis.2015.07.014","article-title":"Impaired enzymatic defensive activity, mitochondrial dysfunction and proteasome activation are involved in RTT cell oxidative damage","volume":"1852","author":"Cervellati","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.abb.2021.108790_bib23","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","article-title":"RettSearch Consortium, Rett syndrome: revised diagnostic criteria and nomenclature","volume":"68","author":"Neul","year":"2010","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.abb.2021.108790_bib24","doi-asserted-by":"crossref","first-page":"2199","DOI":"10.1016\/j.febslet.2013.05.042","article-title":"Scavenger receptor B1 post-translational modifications in Rett syndrome","volume":"587","author":"Sticozzi","year":"2013","journal-title":"FEBS (Fed. Eur. Biochem. Soc.) Lett."},{"key":"10.1016\/j.abb.2021.108790_bib25","doi-asserted-by":"crossref","first-page":"1939","DOI":"10.1089\/ars.2010.3779","article-title":"The interplay between mitochondrial dynamics and mitophagy","volume":"14","author":"Twig","year":"2011","journal-title":"Antioxidants Redox Signal."},{"key":"10.1016\/j.abb.2021.108790_bib26","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.freeradbiomed.2015.04.019","article-title":"Exploring the possible link between MeCP2 and oxidative stress in Rett syndrome","volume":"88","author":"Filosa","year":"2015","journal-title":"Free Radic. Biol. Med."},{"key":"10.1016\/j.abb.2021.108790_bib27","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1042\/BST20140071","article-title":"Aberrant redox homoeostasis and mitochondrial dysfunction in Rett syndrome","volume":"42","author":"M\u00fcller","year":"2014","journal-title":"Biochem. Soc. Trans."},{"key":"10.1016\/j.abb.2021.108790_bib28","article-title":"Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders","author":"Rojas-Charry","year":"2020","journal-title":"J. Mol. Med."},{"key":"10.1016\/j.abb.2021.108790_bib29","article-title":"The complexity of Rett syndrome models: primary fibroblasts as a disease-in-a-dish reliable approach","author":"Cordone","year":"2019","journal-title":"Drug Discov. Today Dis. Model."},{"key":"10.1016\/j.abb.2021.108790_bib30","doi-asserted-by":"crossref","first-page":"101334","DOI":"10.1016\/j.redox.2019.101334","article-title":"Altered inflammasome machinery as a key player in the perpetuation of Rett syndrome oxinflammation","volume":"28","author":"Pecorelli","year":"2020","journal-title":"Redox Biol."},{"key":"10.1016\/j.abb.2021.108790_bib31","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/S0387-7604(88)80010-X","article-title":"Abnormal mitochondria in the Rett syndrome","volume":"10","author":"Eeg-Olofsson","year":"1988","journal-title":"Brain Dev."},{"key":"10.1016\/j.abb.2021.108790_bib32","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1177\/088307389400900419","article-title":"Neuropathology of Rett syndrome: case report with neuronal and mitochondrial abnormalities in the brain","volume":"9","author":"Cornford","year":"1994","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.abb.2021.108790_bib33","doi-asserted-by":"crossref","unstructured":"M.T. Dotti, L. Manneschi, A. Malandrini, N. De Stefano, F. Caznerale, A. Federico, Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study, Brain Dev. 15 (n.d.) 103\u20136..","DOI":"10.1016\/0387-7604(93)90045-A"},{"key":"10.1016\/j.abb.2021.108790_bib34","doi-asserted-by":"crossref","unstructured":"A. Ruch, T.W. Kurczynski, M.E. Velasco, Mitochondrial alterations in Rett syndrome., Pediatr. Neurol.. 5 (n.d.) 320\u2013323..","DOI":"10.1016\/0887-8994(89)90027-1"},{"key":"10.1016\/j.abb.2021.108790_bib35","first-page":"301","article-title":"Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835","volume":"31","author":"Cardaioli","year":"1999","journal-title":"J. Submicr. Cytol. Pathol."},{"key":"10.1016\/j.abb.2021.108790_bib36","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1002\/cne.22009","article-title":"Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks","volume":"514","author":"V Belichenko","year":"2009","journal-title":"J. Comp. Neurol."},{"key":"10.1016\/j.abb.2021.108790_bib37","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.bbabio.2008.10.006","article-title":"Pathophysiology of mitochondrial volume homeostasis: potassium transport and permeability transition","volume":"1787","author":"Nowikovsky","year":"2009","journal-title":"Biochim. Biophys. Acta Bioenerg."},{"key":"10.1016\/j.abb.2021.108790_bib38","author":"Bebensee"},{"key":"10.1016\/j.abb.2021.108790_bib39","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/srep30610","article-title":"The spectrum of mitochondrial ultrastructural defects in mitochondrial myopathy","volume":"6","author":"Vincent","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.abb.2021.108790_bib40","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1111\/febs.13249","article-title":"Parkin structure and function","volume":"282","author":"Seirafi","year":"2015","journal-title":"FEBS J."},{"key":"10.1016\/j.abb.2021.108790_bib41","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41598-017-12069-0","article-title":"Retention of mitochondria in mature human red blood cells as the result of autophagy impairment in rett syndrome","volume":"7","author":"Sbardella","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.abb.2021.108790_bib42","first-page":"1","article-title":"Parkinson's disease-associated protein Parkin: an unusual player in cancer","volume":"38","author":"Liu","year":"2018","journal-title":"Canc. Commun."},{"key":"10.1016\/j.abb.2021.108790_bib43","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.brainresbull.2016.12.004","article-title":"Parkin and PINK1 functions in oxidative stress and neurodegeneration","volume":"133","author":"Barodia","year":"2017","journal-title":"Brain Res. Bull."},{"key":"10.1016\/j.abb.2021.108790_bib44","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1101\/gad.1658508","article-title":"Mitochondrial dynamics and apoptosis","volume":"22","author":"Suen","year":"2008","journal-title":"Gene Dev."},{"key":"10.1016\/j.abb.2021.108790_bib45","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/j.braindev.2003.12.001","article-title":"Lymphoblastoid cell lines of Rett syndrome patients exposed to oxidative-stress-induced apoptosis","volume":"26","author":"Battisti","year":"2004","journal-title":"Brain Dev."},{"key":"10.1016\/j.abb.2021.108790_bib46","doi-asserted-by":"crossref","first-page":"1877","DOI":"10.1002\/jcb.21582","article-title":"A case report: bone marrow mesenchymal stem cells from a rett syndrome patient are prone to senescence and show a lower degree of apoptosis","volume":"103","author":"Squillaro","year":"2008","journal-title":"J. Cell. Biochem."}],"container-title":["Archives of Biochemistry and Biophysics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003986121000400?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003986121000400?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T13:03:13Z","timestamp":1762088593000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0003986121000400"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3]]},"references-count":46,"alternative-id":["S0003986121000400"],"URL":"https:\/\/doi.org\/10.1016\/j.abb.2021.108790","relation":{},"ISSN":["0003-9861"],"issn-type":[{"value":"0003-9861","type":"print"}],"subject":[],"published":{"date-parts":[[2021,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Impaired mitochondrial quality control in Rett Syndrome","name":"articletitle","label":"Article Title"},{"value":"Archives of Biochemistry and Biophysics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.abb.2021.108790","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"108790"}}