Albizzati E, Breccia M, Florio E, Cabasino C, Postogna FM, Grassi R, Boda E, Battaglia C, De Palma C, De Quattro C, Pozzi D, Landsberger N, Frasca A (2024) Mecp2 knock-out astrocytes affect synaptogenesis by interleukin 6 dependent mechanisms. iScience 27(3):109296. https://doi.org/10.1016/j.isci.2024.109296
Article CAS PubMed PubMed Central Google Scholar
Allison K, Maletic-Savatic M, Pehlivan D (2024) MECP2-related disorders while gene-based therapies are on the horizon. Front Genet 15:1332469. https://doi.org/10.3389/fgene.2024.1332469
Article CAS PubMed PubMed Central Google Scholar
Bauer M, Kölsch U, Krüger R, Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, von Bernuth H (2015) Infectious and immunologic phenotype of MECP2 duplication syndrome. J Clin Immunol 35(2):168–181. https://doi.org/10.1007/s10875-015-0129-5
Article CAS PubMed PubMed Central Google Scholar
Brown K, Selfridge J, Lagger S, Connelly J, De Sousa D, Kerr A, Webb S, Guy J, Merusi C, Koerner MV, Bird A (2016) The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome. Hum Mol Genet 25(3):558–570. https://doi.org/10.1093/hmg/ddv496
Article CAS PubMed Google Scholar
Cascio L, Chen CF, Pauly R, Srikanth S, Jones K, Skinner CD, Stevenson RE, Schwartz CE, Boccuto L (2020) Abnormalities in the genes that encode large amino acid transporters increase the risk of autism spectrum disorder. Mol Genet Genom Med 8(1):e1036. https://doi.org/10.1002/mgg3.1036
Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY (2008) MeCP2, a key contributor to neurological disease, activates and represses transcription. Sci (New York N Y) 320(5880):1224–1229. https://doi.org/10.1126/science.1153252
Chinta SJ, Andersen JK (2005) Dopaminergic neurons. Int J Biochem Cell Biol 37(5):942–946. https://doi.org/10.1016/j.biocel.2004.09.009
Article CAS PubMed Google Scholar
Collins BE, Neul JL (2022) Rett syndrome and MECP2 duplication syndrome: disorders of MeCP2 dosage. Neuropsychiatr Dis Treat 18:2813–2835. https://doi.org/10.2147/NDT.S371483
Article PubMed PubMed Central Google Scholar
Ehrhart F, Coort SL, Cirillo E, Smeets E, Evelo CT, Curfs LM (2016) Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes. Orphanet J Rare Dis 11(1):158. https://doi.org/10.1186/s13023-016-0545-5
Article PubMed PubMed Central Google Scholar
Eulenburg V, Armsen W, Betz H, Gomeza J (2005) Glycine transporters: essential regulators of neurotransmission. Trends Biochem Sci 30(6):325–333. https://doi.org/10.1016/j.tibs.2005.04.004
Article CAS PubMed Google Scholar
Frasca A, Miramondi F, Butti E, Indrigo M, Balbontin Arenas M, Postogna FM, Piffer A, Bedogni F, Pizzamiglio L, Cambria C, Borello U, Antonucci F, Martino G, Landsberger N (2024) Neural precursor cells rescue symptoms of Rett syndrome by activation of the Interferon γ pathway. EMBO Mol Med 16(12):3218–3246. https://doi.org/10.1038/s44321-024-00144-9
Article CAS PubMed PubMed Central Google Scholar
Gold WA, Percy AK, Neul JL, Cobb SR, Pozzo-Miller L, Issar JK, Ben-Zeev B, Vignoli A, Kaufmann WE (2024) Rett syndrome. Nat Reviews Disease Primers 10(1):84. https://doi.org/10.1038/s41572-024-00568-0
Golubiani G, Lagani V, Solomonia R, Müller M (2021) Metabolomic fingerprint of Mecp2-Deficient mouse cortex: evidence for a pronounced multi-facetted metabolic component in Rett syndrome. Cells 10(9):2494. https://doi.org/10.3390/cells10092494
Article CAS PubMed PubMed Central Google Scholar
Gottschalk I, Kölsch U, Wagner DL, Kath J, Martini S, Krüger R, Puel A, Casanova JL, Jezela-Stanek A, Rossi R, Chehadeh SE, Van Esch H, von Bernuth H (2023) IRAK1 duplication in MECP2 duplication syndrome does not increase canonical NF-κB-Induced inflammation. J Clin Immunol 43(2):421–439. https://doi.org/10.1007/s10875-022-01390-7
Article CAS PubMed Google Scholar
Harris E (2023) Trofinetide receives FDA approval as first drug for Rett syndrome. JAMA 329(14):1142. https://doi.org/10.1001/jama.2023.4003
Horvath PM, Monteggia LM (2018) MeCP2 as an activator of gene expression. Trends Neurosci 41(2):72–74. https://doi.org/10.1016/j.tins.2017.11.005
Article CAS PubMed PubMed Central Google Scholar
Hudu SA, Elmigdadi F, Qtaitat AA, Almehmadi M, Alsaiari AA, Allahyani M, Aljuaid A, Salih M, Alghamdi A, Alrofaidi MA, Abida, Imran M (2023) Trofinetide for Rett syndrome: highlights on the development and related inventions of the first USFDA-approved treatment for rare pediatric unmet medical need. J Clin Med 12(15):5114. https://doi.org/10.3390/jcm12155114
Article CAS PubMed PubMed Central Google Scholar
Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranvoa U, Juliá-Palacios N, Ribeiro-Constante J, Altafaj X, Olivella M, O’Callaghan M, Darling A, Armstrong J, Artuch R, García-Cazorla À, Oyarzábal A (2023) Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission. J Inherit Metab Dis. https://doi.org/10.1002/jimd.12689Advanced online publication
Jain A, Kaczanowska S, Davila E (2014) IL-1 receptor-associated kinase signaling and its role in inflammation, cancer progression, and therapy resistance. Front Immunol 5:553. https://doi.org/10.3389/fimmu.2014.00553
Article CAS PubMed PubMed Central Google Scholar
Kanehisa M (2019) Toward understanding the origin and evolution of cellular organisms. Protein Science: Publication Protein Soc 28(11):1947–1951. https://doi.org/10.1002/pro.3715
Kanehisa M, Goto S (2000) KEGG: kyoto encyclopedia of genes and genomes. Nucleic Acids Res 28(1):27–30. https://doi.org/10.1093/nar/28.1.27
Article CAS PubMed PubMed Central Google Scholar
Kanehisa M, Furumichi M, Sato Y, Kawashima M, Ishiguro-Watanabe M (2023) KEGG for taxonomy-based analysis of pathways and genomes. Nucleic Acids Res 51(D1):D587–D592. https://doi.org/10.1093/nar/gkac963
Article CAS PubMed Google Scholar
Kaur S, Christodoulou J (2001) MECP2 disorders. In: Adam MP et al (eds) GeneReviews®. University of Washington, Seattle
Krishnaraj R, Ho G, Christodoulou J (2017) RettBASE: Rett syndrome database update. Hum Mutat 38(8):922–931. https://doi.org/10.1002/humu.23263
Legendre P (2001) The glycinergic inhibitory synapse. Cell Mol Life Sci 58:760–793
CAS PubMed PubMed Central Google Scholar
Leonard H, Silberstein J, Falk R, Houwink-Manville I, Ellaway C, Raffaele LS, Engerström IW, Schanen C (2001) Occurrence of Rett syndrome in boys. J Child Neurol 16(5):333–338. https://doi.org/10.1177/088307380101600505
Article CAS PubMed Google Scholar
Leonard H, Cobb S, Downs J (2017) Clinical and biological progress over 50 years in Rett syndrome. Nat Reviews Neurol 13(1):37–51. https://doi.org/10.1038/nrneurol.2016.186
Li Puma DD, Colussi C, Bandiera B, Puliatti G, Rinaudo M, Cocco S, Paciello F, Re A, Ripoli C, De Chiara G, Bertozzi A, Palamara AT, Piacentini R, Grassi C (2023) Interleukin 1β triggers synaptic and memory deficits in herpes simplex virus type-1-infected mice by downregulating the expression of synaptic plasticity-related genes via the epigenetic MeCP2/HDAC4 complex. Cell Mol Life Sci 80(6):172. https://doi.org/10.1007/s00018-023-04817-5
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