Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes - Wikidata - awgldk - TriplyDB

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

http://www.wikidata.org/entity/Q24612484

about

The E3 ubiquitin ligase UBE3A is an integral component of the molecular circadian clock through regulating the BMAL1 transcription factor Mechanisms of dopamine transporter regulation in normal and disease states Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders EphBs: an integral link between synaptic function and synaptopathies Cellular and synaptic network defects in autism Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states Dendritic spine dysgenesis in autism related disorders Recent advances in quantitative neuroproteomics Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction Modeling neurological disorders by human induced pluripotent stem cells Epigenetic genome-wide association methylation in aging and longevity Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila Genetic aspects of autism spectrum disorders: insights from animal models LncRNAs: emerging players in gene regulation and disease pathogenesis Altered social behavior and neuronal development in mice lacking the Uba6-Use1 ubiquitin transfer system.Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders Seizure-like activity in a juvenile Angelman syndrome mouse model is attenuated by reducing Arc expression.Behavioral deficits in an Angelman syndrome model: effects of genetic background and age.Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells.Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms.Non-coding RNA regulation of synaptic plasticity and memory: implications for aging.Epigenetic regulation of estrogen-dependent memory.Genomic imprinting and parent-of-origin effects on complex traits.The role of genomic imprinting in biology and disease: an expanding view.Topoisomerase 1 inhibition reversibly impairs synaptic function.Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model Unravelling the genomic targets of small molecules using high-throughput sequencing.Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.Imprinting genes associated with endometriosis.Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)Angelman Syndrome.Insulin Like Growth Factor 2 Expression in the Rat Brain Both in Basal Condition and following Learning Predominantly Derives from the Maternal Allele.Mealybug chromosome cycle as a paradigm of epigenetics.Profiling of REST-Dependent microRNAs Reveals Dynamic Modes of Expression.An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.

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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

http://www.wikidata.org/entity/Q24612484

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2011 nî lūn-bûn

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2011 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2011 թվականի հունիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

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type

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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

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prefLabel

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

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J.TINS.2011.04.001

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Trends in Neurosciences

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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

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Benjamin D Philpot

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Mark J Zylka

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Matthew C Judson

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P2860

Advances in autism genetics: on the threshold of a new neurobiology

Mass spectrometric characterization of the affinity-purified human 26S proteasome complex

EphA4-mediated Rho activation via Vsm-RhoGEF expressed specifically in vascular smooth muscle cells

EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation

UBE3A/E6-AP mutations cause Angelman syndrome

The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53

The imprinting mechanism of the Prader-Willi/Angelman regional control center.

High-resolution analysis of parent-of-origin allelic expression in the mouse brain

Regulation of parkinsonian motor behaviours by optogenetic control of basal ganglia circuitry.

Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization

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293-303

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10.1016/J.TINS.2011.04.001

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6

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34

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21592595

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3116240

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