Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene

[1]  J. Sutcliffe,et al.  Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome , 1991, Cell.

[2]  Guy Nagels,et al.  Fmr1 knockout mice: A model to study fragile X mental retardation , 1994, Cell.

[3]  I. Weiler,et al.  Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[4]  S. Warren,et al.  Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells , 1999, Nature Genetics.

[5]  W. Greenough,et al.  Dendritic spine structural anomalies in fragile-X mental retardation syndrome. , 2000, Cerebral cortex.

[6]  Mark F. Bear,et al.  Altered synaptic plasticity in a mouse model of fragile X mental retardation , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[7]  S. Ceman,et al.  Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome. , 2002, American journal of human genetics.

[8]  D. Munoz.  Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. , 2002, Neurology.

[9]  P. Hagerman,et al.  FMR1 RNA within the Intranuclear Inclusions of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) , 2004, RNA biology.

[10]  C. E. Pearson,et al.  Repeat instability: mechanisms of dynamic mutations , 2005, Nature Reviews Genetics.

[11]  Wim E Crusio,et al.  Fmr1 KO Mice as a Possible Model of Autistic Features , 2006, TheScientificWorldJournal.

[12]  Richard A Young,et al.  Chromatin immunoprecipitation and microarray-based analysis of protein location , 2006, Nature Protocols.

[13]  Mark F. Bear,et al.  Correction of Fragile X Syndrome in Mice , 2007, Neuron.

[14]  S. Tonegawa,et al.  Inhibition of p21-activated kinase rescues symptoms of fragile X syndrome in mice , 2007, Proceedings of the National Academy of Sciences.

[15]  O. Yanuka,et al.  Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. , 2007, Cell stem cell.

[16]  Clifford A. Meyer,et al.  Model-based Analysis of ChIP-Seq (MACS) , 2008, Genome Biology.

[17]  T. Foster,et al.  FRAGILE X MENTAL RETARDATION PROTEIN REPLACEMENT RESTORES HIPPOCAMPAL SYNAPTIC FUNCTION IN A MOUSE MODEL OF FRAGILE X SYNDROME , 2009, Gene Therapy.

[18]  Randi J. Hagerman,et al.  Advances in the Treatment of Fragile X Syndrome , 2009, Pediatrics.

[19]  Lee E. Edsall,et al.  Human DNA methylomes at base resolution show widespread epigenomic differences , 2009, Nature.

[20]  M. Tomishima,et al.  Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling , 2009, Nature Biotechnology.

[21]  G. Daley,et al.  Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells. , 2010, Cell stem cell.

[22]  D. Licatalosi,et al.  FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism , 2011, Cell.

[23]  Felix Krueger,et al.  Bismark: a flexible aligner and methylation caller for Bisulfite-Seq applications , 2011, Bioinform..

[24]  Marzena Wojciechowska,et al.  Cellular toxicity of expanded RNA repeats: focus on RNA foci , 2011, Human molecular genetics.

[25]  M. Bear,et al.  Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice , 2012, Neuron.

[26]  Cole Trapnell,et al.  TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions , 2013, Genome Biology.

[27]  J. Doudna,et al.  A Programmable Dual-RNA–Guided DNA Endonuclease in Adaptive Bacterial Immunity , 2012, Science.

[28]  Stephen T Warren,et al.  Molecular mechanisms of fragile X syndrome: a twenty-year perspective. , 2012, Annual review of pathology.

[29]  Rudolf Jaenisch,et al.  One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering , 2013, Cell.

[30]  David L. Nelson,et al.  The Unstable Repeats—Three Evolving Faces of Neurological Disease , 2013, Neuron.

[31]  W. Shi,et al.  The Subread aligner: fast, accurate and scalable read mapping by seed-and-vote , 2013, Nucleic acids research.

[32]  Le Cong,et al.  Multiplex Genome Engineering Using CRISPR/Cas Systems , 2013, Science.

[33]  T. Südhof,et al.  Rapid Single-Step Induction of Functional Neurons from Human Pluripotent Stem Cells , 2013, Neuron.

[34]  M. Bear,et al.  Fragile X mental retardation protein and synaptic plasticity , 2013, Molecular Brain.

[35]  Matthew D. Schultz,et al.  Global Epigenomic Reconfiguration During Mammalian Brain Development , 2013, Science.

[36]  S. Tonegawa,et al.  Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by the small-molecule PAK inhibitor FRAX486 , 2013, Proceedings of the National Academy of Sciences.

[37]  Thomas R. Gingeras,et al.  STAR: ultrafast universal RNA-seq aligner , 2013, Bioinform..

[38]  D. Nelson,et al.  Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome , 2014, Journal of Neurodevelopmental Disorders.

[39]  James E. DiCarlo,et al.  RNA-Guided Human Genome Engineering via Cas9 , 2013, Science.

[40]  Peter K. Todd,et al.  CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome , 2013, Neuron.

[41]  Mark J. Thomas,et al.  Fragile X Mental Retardation Protein Regulates Synaptic and Behavioral Plasticity to Repeated Cocaine Administration , 2014, Neuron.

[42]  D. Hampson,et al.  Reduced Phenotypic Severity Following Adeno-Associated Virus-Mediated Fmr1 Gene Delivery in Fragile X Mice , 2014, Neuropsychopharmacology.

[43]  M. Disney,et al.  Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome , 2014, Science.

[44]  Hao Wu,et al.  Reversing DNA Methylation: Mechanisms, Genomics, and Biological Functions , 2014, Cell.

[45]  Steven A. Goldman,et al.  A Competitive Advantage by Neonatally Engrafted Human Glial Progenitors Yields Mice Whose Brains Are Chimeric for Human Glia , 2014, The Journal of Neuroscience.

[46]  W. Huber,et al.  Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2 , 2014, Genome Biology.

[47]  S. Kushner,et al.  Epigenetic Characterization of the FMR1 Promoter in Induced Pluripotent Stem Cells from Human Fibroblasts Carrying an Unmethylated Full Mutation , 2014, Stem cell reports.

[48]  Max A. Horlbeck,et al.  Genome-Scale CRISPR-Mediated Control of Gene Repression and Activation , 2014, Cell.

[49]  Wei Shi,et al.  featureCounts: an efficient general purpose program for assigning sequence reads to genomic features , 2013, Bioinform..

[50]  D. O'Dowd,et al.  The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery , 2014, Stem cells translational medicine.

[51]  R. Eiges,et al.  FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells , 2014, Stem cell reports.

[52]  Carlos Portera-Cailliau,et al.  Altered Neuronal and Circuit Excitability in Fragile X Syndrome , 2015, Neuron.

[53]  Matthew D. Schultz,et al.  Human Body Epigenome Maps Reveal Noncanonical DNA Methylation Variation , 2015, Nature.

[54]  N. Benvenisty,et al.  Molecular Mechanisms Regulating the Defects in Fragile X Syndrome Neurons Derived from Human Pluripotent Stem Cells , 2014, Stem cell reports.

[55]  Jin-Soo Kim,et al.  Functional Correction of Large Factor VIII Gene Chromosomal Inversions in Hemophilia A Patient-Derived iPSCs Using CRISPR-Cas9. , 2015, Cell stem cell.

[56]  O. Yanuka,et al.  Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons. , 2015, Cell reports.

[57]  Dongsheng Duan,et al.  In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy , 2016, Science.

[58]  K. Usdin,et al.  Sustained expression of FMR1 mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27. , 2016, Human molecular genetics.

[59]  Caitlin M. Rodriguez,et al.  CGG Repeat-Associated Non-AUG Translation Utilizes a Cap-Dependent Scanning Mechanism of Initiation to Produce Toxic Proteins. , 2016, Molecular cell.

[60]  Vanja Tadić,et al.  Repurposing the CRISPR-Cas9 system for targeted DNA methylation , 2016, Nucleic acids research.

[61]  Lei Zhang,et al.  A CRISPR-based approach for targeted DNA demethylation , 2016, Cell Discovery.

[62]  John M. Shelton,et al.  Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy , 2016, Science.

[63]  George M. Church,et al.  In vivo gene editing in dystrophic mouse muscle and muscle stem cells , 2016, Science.

[64]  S. Warren,et al.  Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome , 2016, PloS one.

[65]  Yonatan Stelzer,et al.  Editing DNA Methylation in the Mammalian Genome , 2016, Cell.

[66]  G. Neri,et al.  Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome† , 2016, Genes.

[67]  Yi Cui,et al.  CRISPR-dCas9 mediated TET1 targeting for selective DNA demethylation at BRCA1 promoter , 2016, Oncotarget.

[68]  Sarah Crunkhorn.  Genetic disorders: Repurposing metformin in FXS , 2017, Nature Reviews Drug Discovery.

[69]  Sarah Crunkhorn.  G Protein-Coupled Receptors: Crystal structure of glucagon family receptors , 2017, Nature Reviews Drug Discovery.

[70]  Paulina Bravo,et al.  Aspectos clínicos, moleculares y farmacológicos en los trastornos asociados a gen 1 del retraso mental del X frágil , 2017 .

[71]  Hongyan Chen,et al.  CRISPR/Cas9-mediated somatic and germline gene correction to restore hemostasis in hemophilia B mice , 2017, Human Genetics.

[72]  Nevan J. Krogan,et al.  Inhibition of CRISPR-Cas9 with Bacteriophage Proteins , 2017, Cell.

[73]  J. Sweeney,et al.  Fragile X targeted pharmacotherapy: lessons learned and future directions , 2017, Journal of Neurodevelopmental Disorders.

[74]  David R. Liu,et al.  CRISPR-Based Technologies for the Manipulation of Eukaryotic Genomes , 2017, Cell.

[75]  Clinical, molecular, and pharmacological aspects of FMR1 related disorders. , 2017, Neurologia.

[76]  C. Sala.  Faculty of 1000 evaluation for Rescue of fragile X syndrome neurons by DNA methylation editing of the FMR1 gene. , 2018 .