News
Meetings
February 4, 2022:
First year meeting of MeCPer-3D partners and patient associations.
Patient association:
Rett italian association AIRETT ONLUS
Siena
Asociación Española del Síndrome de Rett
Spain
Rett Deutschland e.V. - Elternhilfe für Kinder mit Rett-Syndrom
Germany
Association Française du Syndrome de Rett (AFSR)
France
April 20, 2023:
In-person meeting with all the partners of the project and the Patient Association was held in Siena, Italy
Abstracts
European Society of Gene and Cell Therapy (ESGCT) 2022
Title: CRISPR/Cas9-based gene editing for Rett syndrome therapy
Italian Society of Human Genetics (SIGU) 2022
Title: A European effort for therapeutic gene editing in Rett syndrome: from organoids to mouse models
Conferences
Assosiazione Italiana Rett (AIRETT) 2022
Title: MECPer-3D: a European Project and a New Perspective for Patients Affected by Rett Syndrome.
Publications
Related publications
Croci S, Carriero ML, Capitani K, Daga S, Donati F, Frullanti E, Lamacchia V, Tita R, Giliberti A, Valentino F, Benetti E, Ciabattini A, Furini S, Lo Rizzo C, Pinto AM, Conticello SG, Renieri A, Meloni I. High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot. Eur J Hum Genet. 2020 Sep;28(9):1231-1242. doi: 10.1038/s41431-020-0624-x.
Croci S, Carriero ML, Capitani K, Daga S, Donati F, Papa FT, Frullanti E, Lopergolo D, Lamacchia V, Tita R, Giliberti A, Benetti E, Niccheri F, Furini S, Lo Rizzo C, Conticello SG, Renieri A, Meloni I. AAV-mediated FOXG1 gene editing in human Rett primary cells. Eur J Hum Genet. 2020 Oct;28(10):1446-1458. doi: 10.1038/s41431-020-0652-6. Epub 2020 Jun 15.
Krefft O, Koch P, Ladewig J. Cerebral organoids to unravel the mechanisms underlying malformations of human cortical development. Semin Cell Dev Biol. 2021 Mar;111:15-22. doi:10.1016/j.semcdb.2020.06.001
Rossetti AC, Koch P, Ladewig J. Drug discovery in psychopharmacology: from 2D models to cerebral organoids . Dialogues Clin Neurosci. 2019;21(2):203-224. doi: 10.31887/DCNS.2019.21.2/jladewig.
Miralles M, Eixarch H, Tejero M, Costa C, Hirota K, Castaño AR, Puig M, Stockinger G, Montalban X, Bosch A, Espejo C, Chillon M. Clinical and Histopathological Amelioration of Experimental Autoimmune Encephalomyelitis by AAV Vectors Expressing a Soluble Interleukin-23Receptor. Neurotherapeutics. 2017 Oct;14(4):1095-1106. doi: 10.1007/s13311-017-0545-8.
Thwaite R, Pagès G, Chillón M, Bosch A. AAVrh.10 immunogenicity in mice and humans. Relevance of antibody cross-reactivity in human gene therapy. Gene Ther. 2015 Feb;22(2):196-201. doi: 10.1038/gt.2014.103.
Franci L, Tubita A, Bertolino FM, Palma A, Cannino G, Settembre C, Rasola A, Rovida E, Chiariello M. MAPK15 protects from oxidative stress-dependent cellular senescence by inducing the mitophagic process. Aging Cell. 2022 Jul;21(7):e13620. doi: 10.1111/acel.13620.
Pietrobono S, Franci L, Imperatore F, Zanini C, Stecca B, Chiariello M. MAPK15 Controls Hedgehog Signaling in Medulloblastoma Cells by Regulating Primary Ciliogenesis. Cancers (Basel). 2021 Sep 29;13(19):4903. doi: 10.3390/cancers13194903.
Lebrun N, Delépine C, Selloum M, Meziane H, Nectoux J, Herault Y, Bienvenu T. HDAC inhibitor ameliorates behavioral deficits in Mecp2 308/y mouse model of Rett syndrome. Brain Res. 2021 Dec 1;1772:147670. doi: 10.1016/j.brainres.2021.147670.
Delépine C, Meziane H, Nectoux J, Opitz M, Smith AB, Ballatore C, Saillour Y, Bennaceur-Griscelli A, Chang Q, Williams EC, Dahan M, Duboin A, Billuart P, Herault Y, Bienvenu T. Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes. Hum Mol Genet. 2016 Jan 1;25(1):146-57. doi: 10.1093/hmg/ddv464.