Angelman syndrome — insights into a rare neurogenetic disorder

No abstract is available for this paper.

• Publication year

  2016

• Venue

  Nature Reviews Neurology

• Publication date

  2016-10-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1038/nrneurol.2016.133PMID 27615419
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Pharmacological therapies for Angelman syndrome

  2017cited by this paper
• Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.

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• Tissue-based map of the human proteome

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  2015cited by this paper
• Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects

  2015cited by this paper
• Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect

  2015cited by this paper
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  2015cited by this paper
• Angelman syndrome imprinting center encodes a transcriptional promoter

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• Mutation Update for UBE3A Variants in Angelman Syndrome

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• Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2

  2014cited by this paper
• If not Angelman, what is it? a review of Angelman‐like syndromes

  2014cited by this paper
• Towards a therapy for Angelman syndrome by reduction of a long non-coding RNA

  2014cited by this paper
• Clinical utility gene card for: Angelman Syndrome

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• A retrospective review to assess whether spinal fusion and scoliosis correction improved activity and participation for children with Angelman syndrome

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  2013cited by this paper
• Evaluation of a behavioral treatment package to reduce sleep problems in children with Angelman Syndrome.

  2013cited by this paper
• Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model

  2013cited by this paper
• Topoisomerases facilitate transcription of long genes linked to autism

  2013cited by this paper
• Role of the ubiquitin ligase E6AP/UBE3A in controlling levels of the synaptic protein Arc

  2013cited by this paper
• Angelman syndrome caused by deletion: a genotype-phenotype correlation determined by breakpoint.

  2013cited by this paper
• Sleep in children and adolescents with Angelman syndrome: association with parent sleep and stress.

  2012cited by this paper
• Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.

  2012cited by this paper
• Melatonin profile and its relation to circadian rhythm sleep disorders in Angelman syndrome patients.

  2012cited by this paper
• Low glycemic index treatment for seizures in Angelman syndrome

  2012cited by this paper
• Angelman syndrome: Mutations influence features in early childhood

  2011cited by this paper
• Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons

  2011cited by this paper
• Molecular and Clinical Aspects of Angelman Syndrome

  2011cited by this paper
• Abnormal language pathway in children with Angelman syndrome.

  2011cited by this paper
• UBE3A regulates MC1R expression: a link to hypopigmentation in Angelman syndrome

  2011cited by this paper
• A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome

  2011cited by this paper
• EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation.

  2010cited by this paper
• Prader–Willi syndrome and Angelman syndrome

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• Epilepsy in patients with Angelman syndrome

  2010cited by this paper
• The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.

  2010cited by this paper
• A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

  2010cited by this paper
• The behavioral phenotype of the Angelman syndrome

  2010cited by this paper
• Highly parallel SNP genotyping reveals high-resolution landscape of mono-allelic Ube3a expression associated with locus-wide antisense transcription

  2010cited by this paper
• Ketogenic diet in a patient with Angelman syndrome

  2010cited by this paper
• Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

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• Experimental functional analysis of aggression in children with Angelman syndrome.

  2009cited by this paper
• Epilepsy in Angelman syndrome: A questionnaire‐based assessment of the natural history and current treatment options

  2009cited by this paper
• Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

  2009cited by this paper
• Abnormal myelination in Angelman syndrome.

  2009cited by this paper
• Epilepsy and the sleep–wake patterns found in Angelman syndrome

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• UBE3A/E6-AP regulates cell proliferation by promoting proteasomal degradation of p27.

  2009cited by this paper
• [Epileptic seizures in Angelman syndrome].

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• Epilepsy in Angelman syndrome.

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• Melatonin for Chronic Insomnia in Angelman Syndrome: A Randomized Placebo-Controlled Trial

  2008cited by this paper
• Crisis epilépticas en el síndrome de Angelman

  2008cited by this paper
• Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations

  2007cited by this paper
• Angelman syndrome caused by an identical familial 1,487‐kb deletion

  2007cited by this paper
• Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase.

  2006cited by this paper
• Angelman syndrome 2005: Updated consensus for diagnostic criteria

  2006cited by this paper
• Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay.

  2006cited by this paper
• Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome.

  2005cited by this paper
• Germline mosaicism of a novel UBE3A mutation in Angelman syndrome

  2005cited by this paper
• Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations

  2005cited by this paper
• Sleep in individuals with Angelman syndrome: parent perceptions of patterns and problems.

  2005cited by this paper
• Sleep disturbances in Angelman syndrome: a questionnaire study.

  2004cited by this paper
• Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.

  2004cited by this paper
• Sleep problems in individuals with Angelman syndrome.

  2004cited by this paper
• SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

  2004cited by this paper
• Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.

  2003cited by this paper
• Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.

  2002cited by this paper
• The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.

  2001cited by this paper
• Angelman syndrome: evolution of the phenotype in adolescents and adults

  2001cited by this paper
• Distinct phenotypes distinguish the molecular classes of Angelman syndrome

  2001cited by this paper
• Angelman syndrome: mimicking conditions and phenotypes.

  2001cited by this paper
• Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15

  2000cited by this paper
• Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome

  2000cited by this paper
• The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities.

  1999cited by this paper
• Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

  1999cited by this paper
• Identification of HHR23A as a Substrate for E6-associated Protein-mediated Ubiquitination*

  1999cited by this paper
• Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.

  1999cited by this paper
• Effects of a Low Dose of Melatonin on Sleep in Children with Angelman Syndrome

  1999cited by this paper
• A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

  1999cited by this paper
• Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients

  1999cited by this paper
• A Survey of Expressive Communication Skills in Children With Angelman Syndrome

  1998cited by this paper
• The mechanisms involved in formation of deletions and duplications of 15q11-q13.

  1998cited by this paper
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  1998cited by this paper
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  1998cited by this paper
• Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes

  1998cited by this paper
• Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

  1998cited by this paper
• Mutation analysis of UBE3A in Angelman syndrome patients.

  1998cited by this paper
• Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain

  1997cited by this paper
• The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing.

  1997cited by this paper
• Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.

  1997cited by this paper
• De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

  1997cited by this paper
• Angelman syndrome in adulthood.

  1996cited by this paper
• The Characteristics of Epilepsy with Angelman Syndrome.

  1996cited by this paper
• Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

  1996cited by this paper
• UBE3A/E6-AP mutations cause Angelman syndrome

  1996cited by this paper
• Angelman syndrome in adulthood

  1996cited by this paper
• Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15

  1995cited by this paper
• Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.

  1995cited by this paper
• Angelman syndrome: Consensus for diagnostic criteria

  1995cited by this paper
• Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

  1994cited by this paper
• Communication, cognition, and social interaction in the Angelman syndrome.

  1993cited by this paper
• Communication development in Angelman's syndrome.

  1993cited by this paper
• Angelman Syndrome in Three Siblings: Characteristic Epileptic Seizures and EEG Abnormalities

  1992cited by this paper

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• Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader–Willi and Angelman Syndromes: A Review

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• Genetic and Clinical Characteristics of Chromosome 15q11-q13 Duplication Syndrome in Chinese Children.

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• The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis.

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• RNAi-Induced Expression of Paternal UBE3A.

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• Loss of Drosophila UBE3A phenocopies Piezo dysfunction and drives hyperphagic feeding in Drosophila

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• UBE3A isoform-selective and non-selective contributions to Angelman syndrome phenotypes.

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• Microstructural White Matter Alterations in Angelman Syndrome: A Fixel‐Based Analysis

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• Assessment of Dysphagia in Chinese Cohort of Angelman Syndrome: An Observational Study

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• Caregiving Burden and Quality of Life Among Parents of Individuals With Angelman Syndrome: Gender Differences and the Impact of Financial Well-Being.

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• Angelman Syndrome: An Updated Review of Pathophysiology, Diagnosis and Management

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• Increased Extra‐Axial Cerebrospinal Fluid Volume in Children With Angelman Syndrome: Links to Sleep Problems and Seizures

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