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Article

Allelic specificity of Ube3a expression in the mouse brain during postnatal development.

The Journal of comparative neurology - 1 Jun 2014

Judson Matthew C, Sosa-Pagan Jason O, Del Cid Wilmer A, Han Ji Eun, Philpot Benjamin D

Abstract excerpt

Genetic alterations of the maternal UBE3A allele result in Angelman syndrome (AS), a neurodevelopmental disorder characterized by severe developmental delay, lack of speech, and difficulty with movement and balance. The combined effects of maternal UBE3A mutation and cell type-specific epigenetic silencing of paternal UBE3A are hypothesized to result in a complete loss of functional UBE3A protein in neurons....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24254964
DOI: 10.1002/cne.23507
PMCID: PMC3984624

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Allelic specificity of Ube3a expression in the mouse brain during postnatal development.PMID 24254964Read ↗

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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.Semantic proximity Read ↗

Imprinting effects of UBE3A loss on synaptic gene networks and Wnt signaling pathwaysSemantic proximity Read ↗

Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3aSemantic proximity Read ↗

Spatial and temporal silencing of the human maternal UBE3A gene.Semantic proximity Read ↗

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.Semantic proximity Read ↗

Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndromeSemantic proximity Read ↗

Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation.Semantic proximity Read ↗

Angelman syndrome-derived neurons display late onset of paternal UBE3A silencingSemantic proximity Read ↗

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