Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions

The translational regulator FMRP controls lipid and glucose metabolism in mice and humans

(2019) Antoine Leboucher et al.   Molecular Metabolism

A single early-life seizure results in long-term behavioral changes in the adult Fmr1 knockout mouse

(2019) Samantha L. Hodges et al.   EPILEPSY RESEARCH

Aberrant RNA translation in fragile X syndrome: From FMRP mechanisms to emerging therapeutic strategies

(2018) Anwesha Banerjee et al.   BRAIN RESEARCH

The Fragile X Protein and Genome Function

(2018) Thomas C. Dockendorff et al.   MOLECULAR NEUROBIOLOGY

HITS-CLIP in various brain areas reveals new targets and new modalities of RNA binding by fragile X mental retardation protein

(2018) Thomas Maurin et al.   NUCLEIC ACIDS RESEARCH

Handling FMRP and its molecular partners: Structural insights into Fragile X Syndrome

(2018) Ilda D'Annessa et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Development of White Matter Circuitry in Infants With Fragile X Syndrome

(2018) Meghan R. Swanson et al.   JAMA Psychiatry

Fragile X Mental Retardation Protein Regulates Activity-Dependent Membrane Trafficking and Trans-Synaptic Signaling Mediating Synaptic Remodeling

(2018) James C. Sears et al.   Frontiers in Molecular Neuroscience

The role of reduced expression of fragile X mental retardation protein in neurons and increased expression in astrocytes in idiopathic and syndromic autism (duplications 15q11.2-q13)

(2018) Jarek Wegiel et al.   Autism Research

New Insights Into the Role of Cav2 Protein Family in Calcium Flux Deregulation in Fmr1-KO Neurons

(2018) Sara Castagnola et al.   Frontiers in Molecular Neuroscience

Targeted Reactivation of FMR1 Transcription in Fragile X Syndrome Embryonic Stem Cells

(2018) Jill M. Haenfler et al.   Frontiers in Molecular Neuroscience

Fragile X syndrome and connective tissue dysregulation

(2018) Julián A. Ramírez-Cheyne et al.   CLINICAL GENETICS

Fragile X-Associated Neuropsychiatric Disorders (FXAND)

(2018) Randi J. Hagerman et al.   Frontiers in Psychiatry

Size and methylation mosaicism in males with Fragile X syndrome

(2017) Poonnada Jiraanont et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families

(2017) Anne Wheeler et al.   PEDIATRICS

Fragile X syndrome

(2017) Randi J. Hagerman et al.   Nature Reviews Disease Primers

FMRP Expression Levels in Mouse Central Nervous System Neurons Determine Behavioral Phenotype

(2016) Jason Arsenault et al.   HUMAN GENE THERAPY

Fragile X mental retardation protein controls ion channel expression and activity

(2016) Laurent Ferron   JOURNAL OF PHYSIOLOGY-LONDON

Establishment of Reporter Lines for Detecting Fragile X Mental Retardation (FMR1) Gene Reactivation in Human Neural Cells

(2016) Meng Li et al.   STEM CELLS

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

(2016) Elisabetta Tabolacci et al.   Genes

Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome

(2016) Nina Xie et al.   PLoS One

Altered Neuronal and Circuit Excitability in Fragile X Syndrome

(2015) Anis Contractor et al.   NEURON

High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells

(2015) Daman Kumari et al.   Stem Cells Translational Medicine

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

(2014) Roman Alpatov et al.   CELL

CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size

(2014) A. L. Ludwig et al.   HUMAN MOLECULAR GENETICS

Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences

(2014) Joshua A. Suhl et al.   HUMAN MOLECULAR GENETICS

CGG allele size somatic mosaicism and methylation inFMR1premutation alleles

(2014) Dalyir I Pretto et al.   JOURNAL OF MEDICAL GENETICS

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

(2014) Carolyn M Yrigollen et al.   Journal of Neurodevelopmental Disorders

Genetics and intelligence differences: five special findings

(2014) R Plomin et al.   MOLECULAR PSYCHIATRY

Reduced Phenotypic Severity Following Adeno-Associated Virus-Mediated Fmr1 Gene Delivery in Fragile X Mice

(2014) Shervin Gholizadeh et al.   NEUROPSYCHOPHARMACOLOGY

Clinical and molecular implications of mosaicism in FMR1 full mutations

(2014) Dalyir Pretto et al.   Frontiers in Genetics

Fragile X Screening by Quantification of FMRP in Dried Blood Spots by a Luminex Immunoassay

(2013) Giuseppe LaFauci et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Phosphorylation of FMRP and alterations of FMRP complex underlie enhanced mLTD in adult rats triggered by early life seizures

(2013) Paul B. Bernard et al.   NEUROBIOLOGY OF DISEASE

Decreased fragile X mental retardation protein (FMRP) is associated with lower IQ and earlier illness onset in patients with schizophrenia

(2013) Tamás Kovács et al.   PSYCHIATRY RESEARCH

The FMRP regulon: from targets to disease convergence

(2013) Esperanza Fernández et al.   Frontiers in Neuroscience

FMRP targets distinct mRNA sequence elements to regulate protein expression

(2012) Manuel Ascano et al.   NATURE

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

Metabotropic Glutamate Receptor 5 Upregulation in Children with Autism is Associated with Underexpression of Both Fragile X Mental Retardation Protein and GABAA Receptor Beta 3 in Adults with Autism

(2011) S. Hossein Fatemi et al.   Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

Quantitative measurement of FMRP in blood platelets as a new screening test for fragile X syndrome

(2011) M Lessard et al.   CLINICAL GENETICS

Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder

(2011) Weerasak Chonchaiya et al.   HUMAN GENETICS

An Information-Rich CGG Repeat Primed PCR That Detects the Full Range of Fragile X Expanded Alleles and Minimizes the Need for Southern Blot Analysis

(2010) Liangjing Chen et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

The role of fragile X mental retardation protein in major mental disorders

(2010) S. Hossein Fatemi et al.   NEUROPHARMACOLOGY

Fragile X mental retardation protein levels are decreased in major psychiatric disorders

(2010) S. Hossein Fatemi et al.   SCHIZOPHRENIA RESEARCH

A Quantitative ELISA Assay for the Fragile X Mental Retardation 1 Protein

(2009) Christine Iwahashi et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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 solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome

(2008) David Hessl et al.   Journal of Neurodevelopmental Disorders