ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2021
Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Evidence Synthesis of Gene Therapy and Gene Editing from Different Disorders-Implications for Individuals with Rett Syndrome: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- An antioxidant therapy elicits distinct transcriptome responses in 22q11-deleted upper layer cortical projection neurons.Disease models & mechanisms · 2026Article
- Toward a Small Molecule Therapy for Angelman Syndrome: Structure-Activity Relationship Studies of 3-Aminopyrazole Phenylacetamides as PaternalJournal of medicinal chemistry · 2026Article
- Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review.International journal of molecular sciences · 2026Review
- Measuring economic burden in families of individuals with Angelman Syndrome in Poland: a caregivers' survey.Orphanet journal of rare diseases · 2025Article
- Distinct cellular and transcriptional mechanisms mediate an antioxidant therapeutic response in 22q11-deleted upper layer cortical projection neurons.bioRxiv : the preprint server for biology · 2025Article
- Precision diagnostic and therapeutic interventions in rare genetic neurodevelopmental disorders.Pediatric research · 2025Review
- UBE3A stabilization of β-catenin preserves synaptic proteins essential for motor and cognitive functions in Angelman Syndrome.Molecular autism · 2025Article
- Courtship and distress ultrasonic vocalizations are altered in a mouse model of Angelman syndrome.Journal of neurodevelopmental disorders · 2025Article
- Molecular aspects of Angelman Syndrome: Defining the new path forward.Biomolecules & biomedicine · 2025Review
- Expanding Upon Genomics in Rare Diseases: Epigenomic Insights.International journal of molecular sciences · 2024Review
- Sleep disturbance in Angelman syndrome patients.Orphanet journal of rare diseases · 2024Review
- Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?Human genetics · 2024Article
- Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments.Human mutation · 2024Review
- Novel epigenetic molecular therapies for imprinting disorders.Molecular psychiatry · 2023Review
- Comparing ability and norm-referenced scores as clinical trial outcomes for neurodevelopmental disabilities: a simulation study.Journal of neurodevelopmental disorders · 2023Article
- Article
- Multidimensional analysis of behavior predicts genotype with high accuracy in a mouse model of Angelman syndrome.Translational psychiatry · 2022Article
- Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency.Human molecular genetics · 2022Article
- An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.Genes · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Angelman syndrome (AS) is a rare (~1:15,000) neurodevelopmental disorder characterized by severe developmental delay and intellectual disability, impaired communication skills, and a high prevalence of seizures, sleep disturbances, ataxia, motor deficits, and microcephaly. AS is caused by loss-of-function of the maternally inherited UBE3A gene. UBE3A is located on chromosome 15q11-13 and is biallelically expressed throughout the body but only maternally expressed in the brain due to an RNA antisense transcript that silences the paternal copy. There is currently no cure for AS, but advancements in small molecule drugs and gene therapies offer a promising approach for the treatment of the disorder. Here, we review AS and how loss-of-function of the maternal UBE3A contributes to the disorder. We also discuss the strengths and limitations of current animal models of AS. Furthermore, we examine potential small molecule drug and gene therapies for the treatment of AS and associated challenges faced by the therapeutic design. Finally, gene therapy offers the opportunity for precision medicine in AS and advancements in the treatment of this disorder can serve as a foundation for other single-gene neurodevelopmental disorders.
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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.