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: From Mouse Models to Therapy.

Neuroscience - 1 Oct 2020

Rotaru Diana C, Mientjes Edwin J, Elgersma Ype

Abstract excerpt

The UBE3A gene is part of the chromosome 15q11-q13 region that is frequently deleted or duplicated, leading to several neurodevelopmental disorders (NDD). Angelman syndrome (AS) is caused by the absence of functional maternally derived UBE3A protein, while the paternal UBE3A gene is present but silenced specifically in neurons. Patients with AS present with severe neurodevelopmental delay, with pronounced motor...

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 Disease Models, Animal
Share to Genetic Syndromes and Imprinting

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetics and Neurodevelopmental Disorders

Share to Neurons

Share to Phenotype

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 32088294
DOI: 10.1016/j.neuroscience.2020.02.017

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Angelman Syndrome: From Mouse Models to Therapy.PMID 32088294Read ↗

Angelman Syndrome.Semantic proximity Read ↗

Angelman syndrome: a journey through the brainSemantic proximity Read ↗

Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman SyndromeSemantic proximity Read ↗

Sleep disturbance in Angelman syndrome patientsSemantic proximity Read ↗

Stem cell models of Angelman syndromeSemantic proximity Read ↗

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

Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion.Semantic proximity Read ↗

Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse model.Semantic proximity Read ↗

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

Angelman Syndrome: Identification and Management.Semantic proximity Read ↗

Emerging Therapies and challenges for individuals with Angelman syndrome.Semantic proximity Read ↗

UBE3A reinstatement restores behavior and proteome in an Angelman Syndrome mouse model of Imprinting DefectsSemantic proximity Read ↗

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