Fragile X syndrome: From protein function to therapy

Altered auditory processing in a mouse model of fragile X syndrome

(2013) Sarah Rotschafer et al.   BRAIN RESEARCH

The translation of translational control by FMRP: therapeutic targets for FXS

(2013) Jennifer C Darnell et al.   NATURE NEUROSCIENCE

Lovastatin Corrects Excess Protein Synthesis and Prevents Epileptogenesis in a Mouse Model of Fragile X Syndrome

(2013) Emily K. Osterweil et al.   NEURON

The Unstable Repeats—Three Evolving Faces of Neurological Disease

(2013) David L. Nelson et al.   NEURON

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

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

The targeting and functions of miRNA-383 are mediated by FMRP during spermatogenesis

(2013) H Tian et al.   Cell Death & Disease

Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model

(2012) Inge Heulens et al.   BEHAVIOURAL BRAIN RESEARCH

Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice

(2012) Ilse Gantois et al.   BEHAVIOURAL BRAIN RESEARCH

Minocycline treatment reverses ultrasonic vocalization production deficit in a mouse model of Fragile X Syndrome

(2012) Sarah E. Rotschafer et al.   BRAIN RESEARCH

Multiple Autism-Linked Genes Mediate Synapse Elimination via Proteasomal Degradation of a Synaptic Scaffold PSD-95

(2012) Nien-Pei Tsai et al.   CELL

Drosophila FMRP participates in the DNA damage response by regulating G2/M cell cycle checkpoint and apoptosis

(2012) Wei Liu et al.   HUMAN MOLECULAR GENETICS

Altered maturation of the primary somatosensory cortex in a mouse model of fragile X syndrome

(2012) Sally M. Till et al.   HUMAN MOLECULAR GENETICS

Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

(2012) Claudia Bagni et al.   JOURNAL OF CLINICAL INVESTIGATION

Learning and Memory Deficits Consequent to Reduction of the Fragile X Mental Retardation Protein Result from Metabotropic Glutamate Receptor-Mediated Inhibition of cAMP Signaling in Drosophila

(2012) A. K. Kanellopoulos et al.   JOURNAL OF NEUROSCIENCE

FMRP targets distinct mRNA sequence elements to regulate protein expression

(2012) Manuel Ascano et al.   NATURE

Erratum: Axonal mRNA localization and local protein synthesis in nervous system assembly, maintenance and repair

(2012) Hosung Jung et al.   NATURE REVIEWS NEUROSCIENCE

Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice

(2012) Aubin Michalon et al.   NEURON

Fragile X syndrome: From targets to treatments

(2012) Lasani S. Wijetunge et al.   NEUROPHARMACOLOGY

Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABAB Receptors with Arbaclofen

(2012) C. Henderson et al.   Science Translational Medicine

Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: A Randomized, Controlled, Phase 2 Trial

(2012) E. M. Berry-Kravis et al.   Science Translational Medicine

Modifying behavioral phenotypes in Fmr1KO mice: genetic background differences reveal autistic-like responses

(2011) Corinne M. Spencer et al.   Autism Research

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

(2011) Jennifer C. Darnell et al.   CELL

Amygdala Regulation of Fear and Emotionality in Fragile X Syndrome

(2011) Jose Luis Olmos-Serrano et al.   DEVELOPMENTAL NEUROSCIENCE

Genetic deletion of regulator of G-protein signaling 4 (RGS4) rescues a subset of fragile X related phenotypes in the FMR1 knockout mouse

(2011) Laura K.K. Pacey et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Reversible Inhibition of PSD-95 mRNA Translation by miR-125a, FMRP Phosphorylation, and mGluR Signaling

(2011) Ravi S. Muddashetty et al.   MOLECULAR CELL

Mutations causing syndromic autism define an axis of synaptic pathophysiology

(2011) Benjamin D. Auerbach et al.   NATURE

Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning

(2011) Weixiang Guo et al.   NATURE MEDICINE

AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome

(2011) Josien Levenga et al.   NEUROBIOLOGY OF DISEASE

Subregion-specific dendritic spine abnormalities in the hippocampus of Fmr1 KO mice

(2011) Josien Levenga et al.   NEUROBIOLOGY OF LEARNING AND MEMORY

Therapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond

(2011) Christina Gross et al.   NEUROPSYCHOPHARMACOLOGY

Which Comes First in Fragile X Syndrome, Dendritic Spine Dysgenesis or Defects in Circuit Plasticity?

(2011) Carlos Portera-Cailliau   NEUROSCIENTIST

Genetic-Background Modulation of Core and Variable Autistic-Like Symptoms in Fmr1 Knock-Out Mice

(2011) Susanna Pietropaolo et al.   PLoS One

Cognitive dysfunction and prefrontal synaptic abnormalities in a mouse model of fragile X syndrome

(2011) D. D. Krueger et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Open-label add-on treatment trial of minocycline in fragile X syndrome

(2010) Carlo Paribello et al.   BMC Neurology

dFMRP and Caprin, translational regulators of synaptic plasticity, control the cell cycle at the Drosophila mid-blastula transition

(2010) O. Papoulas et al.   DEVELOPMENT

FMR1/FXR1 and the miRNA pathway are required for eye and neural crest development

(2010) Susanne Gessert et al.   DEVELOPMENTAL BIOLOGY

Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P

(2010) R. L. Coffee et al.   Disease Models & Mechanisms

Excess Phosphoinositide 3-Kinase Subunit Synthesis and Activity as a Novel Therapeutic Target in Fragile X Syndrome

(2010) C. Gross et al.   JOURNAL OF NEUROSCIENCE

Dysregulation of mTOR Signaling in Fragile X Syndrome

(2010) A. Sharma et al.   JOURNAL OF NEUROSCIENCE

Hypersensitivity to mGluR5 and ERK1/2 Leads to Excessive Protein Synthesis in the Hippocampus of a Mouse Model of Fragile X Syndrome

(2010) E. K. Osterweil et al.   JOURNAL OF NEUROSCIENCE

Delayed Stabilization of Dendritic Spines in Fragile X Mice

(2010) A. Cruz-Martin et al.   JOURNAL OF NEUROSCIENCE

Regulation of Synaptic Structure and Function by FMRP-Associated MicroRNAs miR-125b and miR-132

(2010) Dieter Edbauer et al.   NEURON

Mechanism-based approaches to treating fragile X

(2010) Gül Dölen et al.   PHARMACOLOGY & THERAPEUTICS

Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype

(2010) Stephen C. Collins et al.   PLoS One

The Drosophila Gene RanBPM Functions in the Mushroom Body to Regulate Larval Behavior

(2010) Nadia Scantlebury et al.   PLoS One

Altered mRNA transport, docking, and protein translation in neurons lacking fragile X mental retardation protein

(2010) D.-I. Kao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Potential therapeutic interventions for fragile X syndrome

(2010) Josien Levenga et al.   TRENDS IN MOLECULAR MEDICINE

A study of the ultrastructure of Fragile-X-related proteins

(2009) Ljiljana Sjekloća et al.   BIOCHEMICAL JOURNAL

A boost in microRNAs shapes up the neuron

(2009) Ravi Muddashetty et al.   EMBO JOURNAL

Fragile X Mental Retardation Protein Regulates the Levels of Scaffold Proteins and Glutamate Receptors in Postsynaptic Densities

(2009) Janin Schütt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A pilot open label, single dose trial of fenobam in adults with fragile X syndrome

(2009) E Berry-Kravis et al.   JOURNAL OF MEDICAL 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

The Drosophila Fragile X Mental Retardation Gene Regulates Sleep Need

(2009) D. Bushey et al.   JOURNAL OF NEUROSCIENCE

Fragile X mental retardation protein control of neuronal mRNA metabolism: Insights into mRNA stability

(2009) Silvia De Rubeis et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Increased GABAB Receptor-Mediated Signaling Reduces the Susceptibility of Fragile X Knockout Mice to Audiogenic Seizures

(2009) L. K. K. Pacey et al.   MOLECULAR PHARMACOLOGY

Tissue and developmental regulation of fragile X mental retardation 1 exon 12 and 15 isoforms

(2009) Wen Xie et al.   NEUROBIOLOGY OF DISEASE

Metabotropic Glutamate Receptor-Mediated Long-Term Depression: Molecular Mechanisms

(2009) C. M. Gladding et al.   PHARMACOLOGICAL REVIEWS

Generation and Characterization of Fmr1 Knockout Zebrafish

(2009) Marjo J. den Broeder et al.   PLoS One

Phosphorylation of FMRP inhibits association with Dicer

(2009) A. Cheever et al.   RNA

Subcellular mRNA Localization in Animal Cells and Why It Matters

(2009) C. E. Holt et al.   SCIENCE

Signals, synapses, and synthesis: how new proteins control plasticity

(2009) R. Suzanne Zukin   Frontiers in Neural Circuits

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

MosaicFMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature

(2008) Bradford Coffee et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Signaling Mechanisms Linking Neuronal Activity to Gene Expression and Plasticity of the Nervous System

(2008) Steven W. Flavell et al.   Annual Review of Neuroscience

Evidence for social anxiety and impaired social cognition in a mouse model of fragile X syndrome.

(2008) Caitlyn H. McNaughton et al.   BEHAVIORAL NEUROSCIENCE

The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP

(2008) Ilaria Napoli et al.   CELL

A Direct Role for FMRP in Activity-Dependent Dendritic mRNA Transport Links Filopodial-Spine Morphogenesis to Fragile X Syndrome

(2008) Jason B. Dictenberg et al.   DEVELOPMENTAL CELL

Structure and function of KH domains

(2008) Roberto Valverde et al.   FEBS Journal

Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP

(2008) Bastian Linder et al.   HUMAN MOLECULAR GENETICS

Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila

(2008) Shuang Chang et al.   Nature Chemical Biology

Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice

(2008) Femke M.S. de Vrij et al.   NEUROBIOLOGY OF DISEASE

Metabotropic Glutamate Receptors and Fragile X Mental Retardation Protein: Partners in Translational Regulation at the Synapse

(2008) J. A. Ronesi et al.   Science Signaling