Rettsyndrome.org funds additional $775K of new research projects in Q1 2017

(Rettsyndrome.org) The International Rett Syndrome Foundation, now doing business as Rettsyndrome.org, announces the addition of six research projects to its Research Portfolio in the first quarter of 2017. A commitment of $775,000, through research grants, brings the largest non-governmental private funder of Rett research above the recently attained milestone of $40M research dollars to $41M. These funds have continually been designated to accelerate research for Rett syndrome.
Source: EurekAlert! - Medicine and Health - Category: Global & Universal Source Type: news

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Publication date: Available online 8 April 2020Source: Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseAuthor(s): Diego Sbardella, Grazia Raffaella Tundo, Vincenzo Cunsolo, Giuseppe Grasso, Raffaella Cascella, Valerio Caputo, Anna Maria Santoro, Danilo Milardi, Alessandra Pecorelli, Chiara Ciaccio, Donato Di Pierro, Silvia Leoncini, Luisa Campagnolo, Virginia Pironi, Francesco Oddone, Priscilla Manni, Salvatore Foti, Emiliano Giardina, Claudio De Felice, Joussef Hayek
Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease - Category: Molecular Biology Source Type: research
Publication date: 24 March 2020Source: Cell Reports, Volume 30, Issue 12Author(s): Deivid C. Rodrigues, Marat Mufteev, Robert J. Weatheritt, Ugljesa Djuric, Kevin C.H. Ha, P. Joel Ross, Wei Wei, Alina Piekna, Maria A. Sartori, Loryn Byres, Rebecca S.F. Mok, Kirill Zaslavsky, Peter Pasceri, Phedias Diamandis, Quaid Morris, Benjamin J. Blencowe, James Ellis
Source: Cell Reports - Category: Cytology Source Type: research
Abstract Structural Maintenance of Chromosomes (SMCs) are part of a large family of ring complexes that participates in a number of DNA transactions. Among SMCs, SMC1A gene is unique. It encodes a subunit of the cohesin-core complex that tethers sister chromatids together to ensure correct chromosome segregation in both mitosis and meiosis. As a member of the cohesin ring, SMC1A takes part in gene transcription regulation and genome organization; and it participates in the DNA Damage Repair (DDR) pathway, being phosphorylated by Ataxia Telangiectasia Mutated (ATM) and Ataxia Telangiectasia and Rad3 Related (ATR) t...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research
Rett syndrome is an incurable neurodevelopmental disorder caused by mutations in the gene encoding for methyl-CpG binding-protein 2 (MeCP2). Gene therapy for this disease presents inherent hurdles sinceMECP2 is expressed throughout the brain and its duplication leads to severe neurological conditions as well. Herein, we use the AAV-PHP.eB to deliver an instability-proneMecp2 (iMecp2) transgene cassette which, increasing RNA destabilization and inefficient protein translation of the viralMecp2transgene, limits supraphysiological Mecp2 protein levels. Intravenous injections of the PHP.eB-iMecp2 virus in symptomaticMecp2 muta...
Source: eLife - Category: Biomedical Science Tags: Neuroscience Source Type: research
Authors: Provvidenziale L, Cinotti E, Campoli M, Russo F, Rubegni P PMID: 32163043 [PubMed - as supplied by publisher]
Source: Giornale Italiano di Dermatologia e Venereologia - Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research
Condition:   Rett Syndrome Interventions:   Drug: ANAVEX2-73 oral liquid;   Drug: Placebo oral liquid Sponsors:   Anavex Life Sciences Corp.;   Anavex Australia Pty Ltd.;   Anavex Germany GmbH Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Methylated cytosine is an effector of epigenetic gene regulation. In the brain, Dnmt3a is the sole ‘writer’ of atypical non-CpG methylation (mCH), and MeCP2 is the only known ‘reader’ for mCH. We asked if MeCP2 is the sole reader for Dnmt3a dependent methylation by comparing mice lacking either protein in GABAergic inhibitory neurons. Loss of either protein causes overlapping and distinct features from the behavioral to molecular level. Loss of Dnmt3a causes global loss of mCH and a subset of mCG sites resulting in more widespread transcriptional alterations and severe neurological dysfunction than ...
Source: eLife - Category: Biomedical Science Tags: Chromosomes and Gene Expression Neuroscience Source Type: research
No abstract available
Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
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