Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.

Trends in neurosciences - 1 Jun 2011

Mabb Angela M, Judson Matthew C, Zylka Mark J, Philpot Benjamin D

Abstract excerpt

Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. In this review, we describe recent advances in understanding the expression and function of UBE3A in the brain and the etiology of AS. We highlight current...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Angelman Syndrome
Share to Brain
Share to Gene Expression

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Genomic Imprinting

Share to Phenotype

Share to Ubiquitin-Protein Ligases

Source

Open in PubMed Open full text

Identifiers

PMID: 21592595
DOI: 10.1016/j.tins.2011.04.001
PMCID: PMC3116240

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.PMID 21592595Read ↗

Angelman Syndrome.Semantic proximity Read ↗

Angelman syndrome: a review of the clinical and genetic aspects.Semantic proximity Read ↗

Angelman syndrome: how many genes to remain silent?Semantic proximity Read ↗

Toward a Broader View of Ube3a in a Mouse Model of Angelman Syndrome: Expression in Brain, Spinal Cord, Sciatic Nerve and Glial Cells.Semantic proximity Read ↗

Molecular and Clinical Aspects of Angelman SyndromeSemantic proximity Read ↗

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

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

Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome.Semantic proximity Read ↗

The spectrum of mutations in UBE3A causing Angelman syndrome.Semantic proximity Read ↗

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

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

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neuronsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.