ReviewNeural plasticity2012
Understanding the pathogenesis of Angelman syndrome through animal models.
Review in Neural plasticity, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
18 citing papers in PubMed, 51 citations in OpenAlex.
- A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Elevated ROS levels during the early development of Angelman syndrome alter the apoptotic capacity of the developing neural precursor cells.Molecular psychiatry · 2023Article
- The international exchange of Drosophila melanogaster strains.Revue scientifique et technique (International Office of Epizootics) · 2022Article
- Motor Deficits Coupled to Cerebellar and Striatal Alterations in Ube3aMolecular neurobiology · 2021Article
- Behavioral Evaluation of Angelman Syndrome Mice at Older Ages.Neuroscience · 2020Article
- Evaluation of a TrkB agonist on spatial and motor learning in theLearning & memory (Cold Spring Harbor, N.Y.) · 2020Article
- Feasibility of using auditory event-related potentials to investigate learning and memory in nonverbal individuals with Angelman syndrome.Brain and cognition · 2018Article
- Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome.Human molecular genetics · 2017Article
- Environmental Enrichment Improves Behavioral Abnormalities in a Mouse Model of Angelman Syndrome.Molecular neurobiology · 2017Article
- Pharmacological therapies for Angelman syndrome.Wiener medizinische Wochenschrift (1946) · 2017Review
- Genomic imprinting does not reduce the dosage of UBE3A in neurons.Epigenetics & chromatin · 2017Article
- Article
- Dendritic spine dysgenesis in autism related disorders.Neuroscience letters · 2015Review
- Seizure-like activity in a juvenile Angelman syndrome mouse model is attenuated by reducing Arc expression.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Sodium-potassium ATPase emerges as a player in hippocampal phenotypes of Angelman syndrome mice.Journal of neurophysiology · 2014Article
- Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction.Seminars in neurology · 2014Review
- Disruption of the LTD dialogue between the cerebellum and the cortex in Angelman syndrome model: a timing hypothesis.Frontiers in systems neuroscience · 2014Article
- Angelman syndrome: review of clinical and molecular aspects.The application of clinical genetics · 2014Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe mental retardation, lack of speech, ataxia, susceptibility to seizures, and unique behavioral features such as easily provoked smiling and laughter and autistic features. The disease is primarily caused by deletion or loss-of-function mutations of the maternally inherited UBE3A gene located within chromosome 15q11-q13. The UBE3A gene encodes a 100 kDa protein that functions as ubiquitin ligase and transcriptional coactivator. Emerging evidence now indicates that UBE3A plays a very important role in synaptic function and in regulation of activity-dependent synaptic plasticity. A number of animal models for AS have been generated to understand the disease pathogenesis. The most widely used model is the UBE3A-maternal-deficient mouse that recapitulates most of the essential features of AS including cognitive and motor abnormalities. This paper mainly discusses various animal models of AS and how these models provide fundamental insight into understanding the disease biology for potential therapeutic intervention.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.