Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q36498006

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The Presynaptic Microtubule Cytoskeleton in Physiological and Pathological Conditions: Lessons from Drosophila Fragile X Syndrome and Hereditary Spastic Paraplegias A new look at an old drug: neuroprotective effects and therapeutic potentials of lithium salts Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP Fragile X spectrum disorders Autism spectrum disorders and neuropathology of the cerebellum Learning and behavioral deficits associated with the absence of the fragile X mental retardation protein: what a fly and mouse model can teach us.Fragile X syndrome The FMRP regulon: from targets to disease convergence The unstable repeats--three evolving faces of neurological disease Utilizing FMR1 gene mutations as predictors of treatment success in human in vitro fertilization A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation Enhanced expression of ADCY1 underlies aberrant neuronal signalling and behaviour in a syndromic autism model.The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome.Behavioral analysis of male and female Fmr1 knockout mice on C57BL/6 background.From FMRP function to potential therapies for fragile X syndrome.Antipurinergic therapy corrects the autism-like features in the Fragile X (Fmr1 knockout) mouse model.Psychiatric symptoms in boys with fragile X syndrome: a comparison with nonsyndromic autism spectrum disorder.Climbing the branches of a family tree: diagnosis of fragile X syndrome.Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.WIG1 is crucial for AGO2-mediated ACOT7 mRNA silencing via miRNA-dependent and -independent mechanisms Genetic removal of matrix metalloproteinase 9 rescues the symptoms of fragile X syndrome in a mouse model.Modulation of the GABAergic pathway for the treatment of fragile X syndrome.Consistency between research and clinical diagnoses of autism among boys and girls with fragile X syndrome.The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery Reduced phenotypic severity following adeno-associated virus-mediated Fmr1 gene delivery in fragile X mice.Fragile X Syndrome: Lessons Learned from the Most Translated Neurodevelopmental Disorder in Clinical Trials.Concise review: Fragile X proteins in stem cell maintenance and differentiation Cardiac autonomic regulation in autism and Fragile X syndrome: a review.Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients.A novel link between FMR gene and the JNK pathway provides clues to possible role in malignant pleural mesothelioma.Endocannabinoid Signaling in Autism Interference of the complex between NCS-1 and Ric8a with phenothiazines regulates synaptic function and is an approach for fragile X syndrome.An Abnormal Nitric Oxide Metabolism Contributes to Brain Oxidative Stress in the Mouse Model for the Fragile X Syndrome, a Possible Role in Intellectual Disability.Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes Translational control in synaptic plasticity and cognitive dysfunction Low Levels of HDL in Fragile X Syndrome Patients Post-transcriptional regulation by poly(ADP-ribosyl)ation of the RNA-binding proteins.The fragile X protein binds mRNAs involved in cancer progression and modulates metastasis formation.Lithium treatment alleviates impaired cognition in a mouse model of fragile X syndrome.

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P2860

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

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

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

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

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Journal of Clinical Investigation

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

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Flora Tassone

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Giovanni Neri

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Randi Hagerman

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P2860

Correction of fragile X syndrome in mice.

A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.

Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways

The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP

Altered synaptic plasticity in a mouse model of fragile X mental retardation

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

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

Inhibition of p21-activated kinase rescues symptoms of fragile X syndrome in mice.

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4314-4322

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10.1172/JCI63141

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