Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures
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The Presynaptic Microtubule Cytoskeleton in Physiological and Pathological Conditions: Lessons from Drosophila Fragile X Syndrome and Hereditary Spastic ParaplegiasRNA Secondary Structure Modulates FMRP's Bi-Functional Role in the MicroRNA PathwaySingle-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRPDysregulation and restoration of translational homeostasis in fragile X syndromeAltered Neuronal and Circuit Excitability in Fragile X Syndrome.Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and BackBK Channels in the Central Nervous System.In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndromeNew insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes.A 3' untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuRFragile X mental retardation protein: from autism to neurodegenerative disease.Profile of Stephen T. WarrenHuman FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domain.Fmr1 deficiency promotes age-dependent alterations in the cortical synaptic proteome.Multifarious Functions of the Fragile X Mental Retardation Protein.Synaptic vesicle dynamic changes in a model of fragile X.Neuron class-specific requirements for Fragile X Mental Retardation Protein in critical period development of calcium signaling in learning and memory circuitry.In Silico Analysis of FMR1 Gene Missense SNPs.Increased Persistent Sodium Current Causes Neuronal Hyperexcitability in the Entorhinal Cortex of Fmr1 Knockout Mice.Excitability is increased in hippocampal CA1 pyramidal cells of Fmr1 knockout mice.Presynaptic BK channels control transmitter release: physiological relevance and potential therapeutic implications.Dynamic balance of excitation and inhibition rapidly modulates spike probability and precision in feed-forward hippocampal circuits.Large-conductance Ca2+ -activated K+ channel activation by apical P2Y receptor agonists requires hydrocortisone in differentiated airway epithelium.Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder.Combination Therapy in Fragile X Syndrome; Possibilities and Pitfalls Illustrated by Targeting the mGluR5 and GABA Pathway Simultaneously.Axonal ribosomes and mRNAs associate with fragile X granules in adult rodent and human brains.CRL4 antagonizes SCFFbxo7-mediated turnover of cereblon and BK channel to regulate learning and memory.Potential Involvement of Impaired BKCa Channel Function in Sensory Defensiveness and Some Behavioral Disturbances Induced by Unfamiliar Environment in a Mouse Model of Fragile X Syndrome.Fragile X mental retardation protein controls ion channel expression and activity.The role of TGF-β superfamily signaling in neurological disorders.Sumoylation regulates FMRP-mediated dendritic spine elimination and maturation.The quest for targeted therapy in fragile X syndrome.Genetic upregulation of BK channel activity normalizes multiple synaptic and circuit defects in a mouse model of fragile X syndrome.GABAB receptor-mediated feed-forward circuit dysfunction in the mouse model of fragile X syndrome.Of Men and Mice: Modeling the Fragile X Syndrome.Rare FMR1 gene mutations causing fragile X syndrome: A review.Modeling Fragile X Syndrome in Drosophila.New Insights Into the Role of Ca2 Protein Family in Calcium Flux Deregulation in -KO NeuronsFragile X syndromeSensory Processing Phenotypes in Fragile X Syndrome
P2860
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P2860
Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures
description
2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունվարին հրատարակված գիտական հոդված
@hy
article publié dans les Procee ...... f the United States of America
@fr
artículu científicu espublizáu en 2015
@ast
im Januar 2015 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2015/01/27)
@sk
vědecký článek publikovaný v roce 2015
@cs
wetenschappelijk artikel (gepubliceerd op 2015/01/27)
@nl
наукова стаття, опублікована в січні 2015
@uk
name
Independent role for presynapt ...... ectual disability and seizures
@ast
Independent role for presynapt ...... ectual disability and seizures
@en
Independent role for presynapt ...... ectual disability and seizures
@nl
type
label
Independent role for presynapt ...... ectual disability and seizures
@ast
Independent role for presynapt ...... ectual disability and seizures
@en
Independent role for presynapt ...... ectual disability and seizures
@nl
prefLabel
Independent role for presynapt ...... ectual disability and seizures
@ast
Independent role for presynapt ...... ectual disability and seizures
@en
Independent role for presynapt ...... ectual disability and seizures
@nl
P2093
P2860
P3181
P356
P1476
Independent role for presynapt ...... ectual disability and seizures
@en
P2093
Jeannie Visootsak
Joshua A Suhl
Leila K Myrick
Mickael J Poidevin
Pan-Yue Deng
Stephen T Warren
Valeria Cavalli
Vitaly A Klyachko
Xiaodong Cheng
P2860
P304
P3181
P356
10.1073/PNAS.1423094112
P407
P577
2015-01-05T00:00:00Z