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

New perspectives on the biology of fragile X syndrome

(2012) Tao Wang et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model

(2012) S. M. Goebel-Goody et al.   GENES BRAIN AND BEHAVIOR

Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome

(2012) C. A. Hoeffer et al.   GENES BRAIN AND BEHAVIOR

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

Dephosphorylation-Induced Ubiquitination and Degradation of FMRP in Dendrites: A Role in Immediate Early mGluR-Stimulated Translation

(2012) V. C. Nalavadi et al.   JOURNAL OF NEUROSCIENCE

Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice

(2012) Aubin Michalon et al.   NEURON

BC1-FMRP interaction is modulated by 2′-O-methylation: RNA-binding activity of the tudor domain and translational regulation at synapses

(2012) Caroline Lacoux et al.   NUCLEIC ACIDS RESEARCH

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

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

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

(2011) Jennifer C. Darnell et al.   CELL

Fragile X syndrome

(2011) Jeremy Turk   CURRENT OPINION IN PSYCHIATRY

Heads-up: New roles for the fragile X mental retardation protein in neural stem and progenitor cells

(2011) Matthew A. Callan et al.   GENESIS

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

FMR1 premutation and full mutation molecular mechanisms related to autism

(2011) Randi Hagerman et al.   Journal of Neurodevelopmental Disorders

Mutations causing syndromic autism define an axis of synaptic pathophysiology

(2011) Benjamin D. Auerbach et al.   NATURE

Reversal of Fragile X Phenotypes by Manipulation of AβPP/Aβ Levels in Fmr1KO Mice

(2011) Cara J. Westmark et al.   PLoS One

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

Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome

(2010) David E Godler et al.   GENETICS IN MEDICINE

Commentary on population screening for fragile X syndrome

(2010) Bradford Coffee   GENETICS IN MEDICINE

NMDA receptor hypofunction in the dentate gyrus and impaired context discrimination in adult Fmr1 knockout mice

(2010) Brennan D. Eadie et al.   HIPPOCAMPUS

Advances in understanding the molecular basis of FXTAS

(2010) D. Garcia-Arocena et al.   HUMAN MOLECULAR GENETICS

A Simple, High-Throughput Assay for Fragile X Expanded Alleles Using Triple Repeat Primed PCR and Capillary Electrophoresis

(2010) Elaine Lyon et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization

(2010) Lisa Cordeiro et al.   Journal of Neurodevelopmental Disorders

Dysregulation of mTOR Signaling in Fragile X Syndrome

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

Defective GABAergic Neurotransmission and Pharmacological Rescue of Neuronal Hyperexcitability in the Amygdala in a Mouse Model of Fragile X Syndrome

(2010) J. L. Olmos-Serrano et al.   JOURNAL OF NEUROSCIENCE

Fragile X mice: Reduced long-term potentiation and N-Methyl-D-Aspartate receptor-mediated neurotransmission in dentate gyrus

(2010) Sung Hwan Yun et al.   JOURNAL OF NEUROSCIENCE RESEARCH

BDNF and TrkB in neuronal differentiation of Fmr1-knockout mouse

(2010) Verna Louhivuori et al.   NEUROBIOLOGY OF DISEASE

Characterization and reversal of synaptic defects in the amygdala in a mouse model of fragile X syndrome

(2010) A. Suvrathan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Early continuous inhibition of group 1 mGlu signaling partially rescues dendritic spine abnormalities in the Fmr1 knockout mouse model for fragile X syndrome

(2010) Tao Su et al.   PSYCHOPHARMACOLOGY

Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses

(2010) M. Xunclà et al.   REPRODUCTIVE BIOMEDICINE ONLINE

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

Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA

(2009) Bradford Coffee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deregulation of EIF4E: a novel mechanism for autism

(2009) M Neves-Pereira et al.   JOURNAL OF MEDICAL GENETICS

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

Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population

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

Fragile X mental retardation protein is required for chemically-induced long-term potentiation of the hippocampus in adult mice

(2009) Yuze Shang et al.   JOURNAL OF NEUROCHEMISTRY

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

Randomized, Controlled Trial of an Intervention for Toddlers With Autism: The Early Start Denver Model

(2009) G. Dawson et al.   PEDIATRICS

No Change in the Age of Diagnosis for Fragile X Syndrome: Findings From a National Parent Survey

(2009) D. B. Bailey et al.   PEDIATRICS

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

Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder

(2008) Catalina García-Nonell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2008) Ilaria Napoli et al.   CELL

Downregulation of Tonic GABAergic Inhibition in a Mouse Model of Fragile X Syndrome

(2008) Giulia Curia et al.   CEREBRAL CORTEX

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

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

S6K1 Phosphorylates and Regulates Fragile X Mental Retardation Protein (FMRP) with the Neuronal Protein Synthesis-dependent Mammalian Target of Rapamycin (mTOR) Signaling Cascade

(2008) Usha Narayanan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Open-Label Treatment Trial of Lithium to Target the Underlying Defect in Fragile X Syndrome

(2008) Elizabeth Berry-Kravis et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Elevated glycogen synthase kinase-3 activity in Fragile X mice: Key metabolic regulator with evidence for treatment potential

(2008) Wenzhong William Min et al.   NEUROPHARMACOLOGY

Minocycline increases phosphorylation and membrane insertion of neuronal GluR1 receptors

(2008) Marta Imbesi et al.   NEUROSCIENCE LETTERS

Aberrant early-phase ERK inactivation impedes neuronal function in fragile X syndrome

(2008) S. H. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Abnormal Striatal GABA Transmission in the Mouse Model for the Fragile X Syndrome

(2007) Diego Centonze et al.   BIOLOGICAL PSYCHIATRY

A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk Populations

(2007) Flora Tassone et al.   JOURNAL OF MOLECULAR DIAGNOSTICS