Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome

Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells

(2016) Elisabetta Tabolacci et al.   Epigenetics & Chromatin

Defining the role of the CGGBP1 protein in FMR1 gene expression

(2015) Martina Goracci et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons

(2015) Chul-Yong Park et al.   Cell Reports

Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders

(2015) Karen Usdin et al.   Frontiers in Genetics

Epidemiology of fragile X syndrome: A systematic review and meta-analysis

(2014) Jessica Hunter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Chromatin-Dependent Role of the Fragile X Mental Retardation Protein FMRP in the DNA Damage Response

(2014) Roman Alpatov et al.   CELL

Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome

(2014) D. Colak et al.   SCIENCE

R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome

(2014) Matthias Groh et al.   PLoS Genetics

Transcription-Associated R-Loop Formation across the Human FMR1 CGG-Repeat Region

(2014) Erick W. Loomis et al.   PLoS Genetics

FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells

(2014) Michal Avitzour et al.   Stem Cell Reports

Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders

(2014) Karen Usdin et al.   Frontiers in Genetics

Fragile X syndrome: From protein function to therapy

(2013) Claudia Bagni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epigenetics, fragile X syndrome and transcriptional therapy

(2013) Elisabetta Tabolacci et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Fragile X Protein binds mRNAs involved in cancer progression and modulates metastasis formation

(2013) Rossella Lucá et al.   EMBO Molecular Medicine

Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome

(2013) Chiara Pastori et al.   HUMAN GENETICS

Fmr1 Transcript Isoforms: Association with Polyribosomes; Regional and Developmental Expression in Mouse Brain

(2013) David M. Brackett et al.   PLoS One

Role of CTCF Protein in Regulating FMR1 Locus Transcription

(2013) Stella Lanni et al.   PLoS Genetics

The FMRP regulon: from targets to disease convergence

(2013) Esperanza Fernández et al.   Frontiers in Neuroscience

The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

(2012) Elisabetta Tabolacci et al.   BMC Medical Genetics

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

(2012) Carolyn M. Yrigollen et al.   GENETICS IN MEDICINE

Molecular analysis of FMR1 reactivation in fragile-X induced pluripotent stem cells and their neuronal derivatives

(2012) Ori Bar-Nur et al.   Journal of Molecular Cell Biology

The FRAXopathies: Definition, overview, and update

(2011) Filomena Pirozzi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Modulation of dADAR-dependent RNA editing by the Drosophila fragile X mental retardation protein

(2011) Balpreet Bhogal et al.   NATURE NEUROSCIENCE

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

(2011) S. Jacquemont et al.   Science Translational Medicine

Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys

(2010) MariaGiulia Torrioli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Differential Modeling of Fragile X Syndrome by Human Embryonic Stem Cells and Induced Pluripotent Stem Cells

(2010) Achia Urbach et al.   Cell Stem Cell

The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome

(2010) D. Kumari et al.   HUMAN MOLECULAR GENETICS

Targeting of 5-aza-2′-deoxycytidine residues by chromatin-associated DNMT1 induces proteasomal degradation of the free enzyme

(2010) Katan Patel et al.   NUCLEIC ACIDS RESEARCH

The Long Arm of Long Noncoding RNAs: Roles as Sensors Regulating Gene Transcriptional Programs

(2010) X. Wang et al.   Cold Spring Harbor Perspectives in Biology

Histone Deacetylases Suppress CGG Repeat–Induced Neurodegeneration Via Transcriptional Silencing in Models of Fragile X Tremor Ataxia Syndrome

(2010) Peter K. Todd et al.   PLoS Genetics

A Distinct DNA-Methylation Boundary in the 5′- Upstream Sequence of the FMR1 Promoter Binds Nuclear Proteins and Is Lost in Fragile X Syndrome

(2009) Anja Naumann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations

(2009) Isabel Fernandez-Carvajal et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Translation of the FMR1 mRNA is not influenced by AGG interruptions

(2009) A. L. Ludwig et al.   NUCLEIC ACIDS RESEARCH

Modest reactivation of the mutant FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation

(2009) Elisabetta Tabolacci et al.   Pharmacogenetics and Genomics

A double-blind, parallel, multicenter comparison ofL-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys

(2008) M. Giulia Torrioli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations

(2008) Elisabetta Tabolacci et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Novel RNA Transcript with Antiapoptotic Function Is Silenced in Fragile X Syndrome

(2008) Ahmad M. Khalil et al.   PLoS One