Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
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SHANK proteins: roles at the synapse and in autism spectrum disorder.BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutationsDIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/β-catenin signaling.Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome.Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.Prenatal Valproate Exposure Differentially Affects Parvalbumin-Expressing Neurons and Related Circuits in the Cortex and Striatum of Mice.Experience-Dependent Plasticity in Accessory Olfactory Bulb Interneurons following Male-Male Social Interaction.Differential Maturation of the Two Regulated Secretory Pathways in Human iPSC-Derived Neurons.Autism, epilepsy, and synaptopathies: a not rare association.Serotonin rebalances cortical tuning and behavior linked to autism symptoms in 15q11-13 CNV mice.The Planar Cell Polarity Transmembrane Protein Vangl2 Promotes Dendrite, Spine and Glutamatergic Synapse Formation in the Mammalian Forebrain.Shank is a dose-dependent regulator of Cav1 calcium current and CREB target expression.Restored iron transport by a small molecule promotes absorption and hemoglobinization in animals.A Scaled Framework for CRISPR Editing of Human Pluripotent Stem Cells to Study Psychiatric Disease.CryoEM structure of a prokaryotic cyclic nucleotide-gated ion channel.Intellicount: High-Throughput Quantification of Fluorescent Synaptic Protein Puncta by Machine Learning.Stem cell-derived neurons from autistic individuals with SHANK3 mutation show morphogenetic abnormalities during early development.Identifying specific prefrontal neurons that contribute to autism-associated abnormalities in physiology and social behavior.SHANK3 Deficiency Impairs Heat Hyperalgesia and TRPV1 Signaling in Primary Sensory Neurons.A framework to identify contributing genes in patients with Phelan-McDermid syndrome.Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder.Mirror Neurons Modeled Through Spike-Timing-Dependent Plasticity are Affected by Channelopathies Associated with Autism Spectrum Disorder.Disturbed Processing of Contextual Information in HCN3 Channel Deficient Mice.Sensory perception in autism.Serotonin in psychiatry: in vitro disease modeling using patient-derived neurons.The Importance of Non-neuronal Cell Types in hiPSC-Based Disease Modeling and Drug Screening.Neural stem cells and epilepsy: functional roles and disease-in-a-dish models.Shank3-deficient thalamocortical neurons show HCN channelopathy and alterations in intrinsic electrical properties.AUTISM. Unraveling a pathway to autism.Translating genetic and preclinical findings into autism therapies.Shank3 mutations and HCN channelopathy: one size does not fit all.d-Serine administration affects nitric oxide synthase 1 adaptor protein and DISC1 expression in sex-specific manner.Uncovering True Cellular Phenotypes: Using Induced Pluripotent Stem Cell-Derived Neurons to Study Early Insults in Neurodevelopmental Disorders.Cell-Type Specific Development of the Hyperpolarization-Activated Current, Ih, in Prefrontal Cortical Neurons.Inhibition of GluR Current in Microvilli of Sensory Neurons via Na+-Microdomain Coupling Among GluR, HCN Channel, and Na+/K+ Pump.Effects of 3D culturing conditions on the transcriptomic profile of stem-cell-derived neuronsComplete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human NeuronsConvergence of independent DISC1 mutations on impaired neurite growth via decreased UNC5D expressionFunctional Relevance of Missense Mutations Affecting the N-Terminal Part of Shank3 Found in Autistic Patients
P2860
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P2860
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
description
2016 nî lūn-bûn
@nan
2016 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
@ast
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
@en
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
@nl
type
label
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
@ast
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
@en
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
@nl
prefLabel
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
@ast
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
@en
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
@nl
P2093
P2860
P3181
P356
P1433
P1476
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
@en
P2093
ChangHui Pak
Christopher Patzke
Salome Calado Botelho
Tamas Danko
P2860
P304
P3181
P356
10.1126/SCIENCE.AAF2669
P407
P577
2016-05-06T00:00:00Z