The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.
about
The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamilySmall evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brainThe comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neuronsAngelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypesIntegrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kbFrom UBE3A to Angelman syndrome: a substrate perspectiveGenetic ablation of the steroid receptor coactivator-ubiquitin ligase, E6-AP, results in tissue-selective steroid hormone resistance and defects in reproduction.Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.Pathway-specific dopaminergic deficits in a mouse model of Angelman syndromeGenetic reduction of the α1 subunit of Na/K-ATPase corrects multiple hippocampal phenotypes in Angelman syndrome.Molecular screening for proximal 15q abnormalities in a mentally retarded population.Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndromeLinkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers.Altered serotonin, dopamine and norepinepherine levels in 15q duplication and Angelman syndrome mouse modelsUbe3a imprinting impairs circadian robustness in Angelman syndrome modelsAngelman Syndrome.Reversal of impaired hippocampal long-term potentiation and contextual fear memory deficits in Angelman syndrome model mice by ErbB inhibitorsMaternal Ube3a Loss Disrupts Sleep Homeostasis But Leaves Circadian Rhythmicity Largely Intact.From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study.Alterations in intrinsic membrane properties and the axon initial segment in a mouse model of Angelman syndromeMitochondrial Superoxide Contributes to Hippocampal Synaptic Dysfunction and Memory Deficits in Angelman Syndrome Model MiceEpigenetic mechanisms in neurological diseaseGABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility.E6-associated protein (E6-AP) is a dual function coactivator of steroid hormone receptors.Guided by RNAs: X-inactivation as a model for lncRNA function.A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell deathThe active form of E6-associated protein (E6AP)/UBE3A ubiquitin ligase is an oligomer.Allelic specificity of Ube3a expression in the mouse brain during postnatal development.Stress, glucocorticoid receptors, and adult neurogenesis: a balance between excitation and inhibition?A Synthetic Interaction between CDC20 and RAD4 in Saccharomyces cerevisiae upon UV Irradiation.Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice.Enhanced Nociception in Angelman Syndrome Model Mice.A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.Analysis of peripheral amyloid precursor protein in Angelman Syndrome.Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders.
P2860
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P2860
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.
description
1997 nî lūn-bûn
@nan
1997 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
The E6-Ap ubiquitin-protein li ...... lman syndrome critical region.
@ast
The E6-Ap ubiquitin-protein li ...... lman syndrome critical region.
@en
The E6-Ap ubiquitin-protein ligase
@nl
type
label
The E6-Ap ubiquitin-protein li ...... lman syndrome critical region.
@ast
The E6-Ap ubiquitin-protein li ...... lman syndrome critical region.
@en
The E6-Ap ubiquitin-protein ligase
@nl
prefLabel
The E6-Ap ubiquitin-protein li ...... lman syndrome critical region.
@ast
The E6-Ap ubiquitin-protein li ...... lman syndrome critical region.
@en
The E6-Ap ubiquitin-protein ligase
@nl
P2093
P2860
P356
P1433
P1476
The E6-Ap ubiquitin-protein li ...... lman syndrome critical region.
@en
P2093
A L Beaudet
B Cattanach
D H Ledbetter
J Bressler
J S Sutcliffe
R J Galijaard
S L Christian
T Matsuura
P2860
P304
P356
10.1101/GR.7.4.368
P577
1997-04-01T00:00:00Z