Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs. - sprookjes - yvandenbroek - TriplyDB

Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs.

Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs.

http://www.wikidata.org/entity/Q34871401

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Dysregulation and restoration of translational homeostasis in fragile X syndrome Fragile X spectrum disorders Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)Enhanced expression of ADCY1 underlies aberrant neuronal signalling and behaviour in a syndromic autism model.Selective role of the catalytic PI3K subunit p110β in impaired higher order cognition in fragile X syndrome.Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology Increased expression of the PI3K catalytic subunit p110δ underlies elevated S6 phosphorylation and protein synthesis in an individual with autism from a multiplex family.An altered peripheral IL6 response in major depressive disorder Targeting Translation Control with p70 S6 Kinase 1 Inhibitors to Reverse Phenotypes in Fragile X Syndrome Mice.CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.mTOR, a Potential Target to Treat Autism Spectrum Disorder.Dysregulation of mRNA Localization and Translation in Genetic Disease Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis.Human dermal fibroblasts in psychiatry research.Pharmacotherapy for Fragile X Syndrome: Progress to Date.A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders.Sustained expression of FMR1 mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27.Lovastatin corrects ERK pathway hyperactivation in fragile X syndrome: potential of platelet's signaling cascades as new outcome measures in clinical trials.Defective phosphoinositide metabolism in autism.Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome.Calmodulin activity regulates group I metabotropic glutamate receptor-mediated signal transduction and synaptic depression.Establishment of Reporter Lines for Detecting Fragile X Mental Retardation (FMR1) Gene Reactivation in Human Neural Cells.Platelets as a surrogate disease model of neurodevelopmental disorders: Insights from Fragile X Syndrome.Protein synthesis levels are increased in a subset of individuals with Fragile X syndrome.Of Men and Mice: Modeling the Fragile X Syndrome.

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P2860

Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs.

http://www.wikidata.org/entity/Q34871401

description

2014 nî lūn-bûn

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2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Identification of fragile X sy ...... efficacy of therapeutic drugs.

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Identification of fragile X sy ...... efficacy of therapeutic drugs.

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Identification of fragile X sy ...... efficacy of therapeutic drugs.

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Identification of fragile X sy ...... efficacy of therapeutic drugs.

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Identification of fragile X sy ...... efficacy of therapeutic drugs.

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Identification of fragile X sy ...... efficacy of therapeutic drugs.

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Identification of fragile X sy ...... efficacy of therapeutic drugs.

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Identification of fragile X sy ...... efficacy of therapeutic drugs.

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Identification of fragile X sy ...... efficacy of therapeutic drugs.

@en

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Aditi Bhattacharya

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Anne Glicksman

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Carl Dobkin

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Carolyn B Smith

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Daman Kumari

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David J Brick

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Eric Klann

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Jeffrey Nadel

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Karen Usdin

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Kristen Moulton

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P2860

Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function

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

A simple salting out procedure for extracting DNA from human nucleated cells

Regulation and function of ribosomal protein S6 kinase (S6K) within mTOR signalling networks

Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at synapses in a mouse model of fragile X syndrome

Fragile X: leading the way for targeted treatments in autism.

Genetic and acute CPEB1 depletion ameliorate fragile X pathophysiology.

Reversal of fragile X phenotypes by manipulation of AβPP/Aβ levels in Fmr1KO mice

Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome.

Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.

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10.1002/HUMU.22699

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12

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