ReviewBMC neuroscience2014
The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders.
Review in BMC neuroscience, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03650569 (Italian Angelman Syndrome Registry Project), which is not on this map. Cited by 12 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Italian Angelman Syndrome Registry Project
Who cites it
12 citing papers in PubMed, 29 citations in OpenAlex.
- Acute administration of lovastatin had no pronounced effect on motor abilities, motor coordination, gait nor simple cognition in a mouse model of Angelman syndrome.Journal of neurodevelopmental disorders · 2025Article
- Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry.Journal of clinical medicine · 2024Article
- Identification of novel variations of oculocutaneous albinism type 2 with Prader-Willi syndrome/Angelman syndrome in two Chinese families.Frontiers in genetics · 2023Article
- Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells.Human molecular genetics · 2021Article
- Epilepsy in Angelman syndrome: A scoping review.Brain & development · 2021Article
- Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome.Translational psychiatry · 2020Article
- Article
- Unmet clinical needs and burden in Angelman syndrome: a review of the literature.Orphanet journal of rare diseases · 2017Review
- Engineering and Application of Zinc Finger Proteins and TALEs for Biomedical Research.Molecules and cells · 2017Review
- A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry.Orphanet journal of rare diseases · 2017Article
- Protein Delivery of an Artificial Transcription Factor Restores Widespread Ube3a Expression in an Angelman Syndrome Mouse Brain.Molecular therapy : the journal of the American Society of Gene Therapy · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundAngelman syndrome is a monogenic neurologic disorder that affects 1 in 15,000 children, and is characterized by ataxia, intellectual disability, speech impairment, sleep disorders, and seizures. The disorder is caused by loss of central nervous system expression of UBE3A, a gene encoding a ubiquitin ligase. Current treatments focus on the management of symptoms, as there have not been therapies to treat the underlying molecular cause of the disease. However, this outlook is evolving with advances in molecular therapies, including artificial transcription factors a class of engineered DNA-binding proteins that have the potential to target a specific site in the genome.
resultsHere we review the recent progress and prospect of targeted gene expression therapies. Three main issues that must be addressed to advance toward human clinical trials are specificity, toxicity, and delivery.
conclusionsArtificial transcription factors have the potential to address these concerns on a level that meets and in some cases exceeds current small molecule therapies. We examine the possibilities of such approaches in the context of Angelman syndrome, as a template for other single-gene, neurologic disorders.
Indexed as
Identifiers
What OpenQuestion holds
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.