Database : MEDLINE
Search on : Angelman and Syndrome [Words]
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[PMID]: 29524138
[Au] Autor:Pyles B; Bailus BJ; O'Geen H; Segal DJ
[Ad] Address:Genome Center and Department of Biochemistry and Molecular Medicine, University of California, Davis, Davis, CA, USA.
[Ti] Title:Purified Protein Delivery to Activate an Epigenetically Silenced Allele in Mouse Brain.
[So] Source:Methods Mol Biol;1767:227-239, 2018.
[Is] ISSN:1940-6029
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The ability to activate or repress specific genes in the brain could have a tremendous impact for understanding and treating neurological disorders. Artificial transcription factors based on zinc finger, TALE, and CRISPR/Cas9 programmable DNA-binding platforms have been widely used to regulate the expression of specific genes in cultured cells, but their delivery into the brain represents a critical challenge to apply such tools in live animals. In previous work, we developed a purified, zinc finger-based artificial transcription factor that could be injected systemically, cross the blood-brain barrier, and alter expression of a specific gene in the brain of an adult mouse model of Angelman syndrome. Importantly, our mode of delivery produced widespread distribution throughout the brain. Here we describe our most current methods for the production and purification of the factor, dosage optimization, and use of live animal fluorescence imaging to visualize the kinetics of distribution.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:In-Data-Review
[do] DOI:10.1007/978-1-4939-7774-1_12

  2 / 1677 MEDLINE  
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[PMID]: 29426014
[Au] Autor:Martínez-Noël G; Luck K; Kühnle S; Desbuleux A; Szajner P; Galligan JT; Rodriguez D; Zheng L; Boyland K; Leclere F; Zhong Q; Hill DE; Vidal M; Howley PM
[Ad] Address:Department of Microbiology and Immunobiology, Harvard Medical School, Boston, MA 02115, USA.
[Ti] Title:Network Analysis of UBE3A/E6AP-Associated Proteins Provides Connections to Several Distinct Cellular Processes.
[So] Source:J Mol Biol;, 2018 Feb 06.
[Is] ISSN:1089-8638
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Perturbations in activity and dosage of the UBE3A ubiquitin-ligase have been linked to Angelman syndrome and autism spectrum disorders. UBE3A was initially identified as the cellular protein hijacked by the human papillomavirus E6 protein to mediate the ubiquitylation of p53, a function critical to the oncogenic potential of these viruses. Although a number of substrates have been identified, the normal cellular functions and pathways affected by UBE3A are largely unknown. Previously, we showed that UBE3A associates with HERC2, NEURL4, and MAPK6/ERK3 in a high-molecular-weight complex of unknown function that we refer to as the HUN complex (HERC2, UBE3A, and NEURL4). In this study, the combination of two complementary proteomic approaches with a rigorous network analysis revealed cellular functions and pathways in which UBE3A and the HUN complex are involved. In addition to finding new UBE3A-associated proteins, such as MCM6, SUGT1, EIF3C, and ASPP2, network analysis revealed that UBE3A-associated proteins are connected to several fundamental cellular processes including translation, DNA replication, intracellular trafficking, and centrosome regulation. Our analysis suggests that UBE3A could be involved in the control and/or integration of these cellular processes, in some cases as a component of the HUN complex, and also provides evidence for crosstalk between the HUN complex and CAMKII interaction networks. This study contributes to a deeper understanding of the cellular functions of UBE3A and its potential role in pathways that may be affected in Angelman syndrome, UBE3A-associated autism spectrum disorders, and human papillomavirus-associated cancers.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher

  3 / 1677 MEDLINE  
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[PMID]: 29516994
[Au] Autor:Stanurova J; Neureiter A; Hiber M; de Oliveira Kessler H; Stolp K; Goetzke R; Klein D; Bankfalvi A; Klump H; Steenpass L
[Ti] Title:Corrigendum: Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing.
[So] Source:Sci Rep;8:46952, 2018 Mar 08.
[Is] ISSN:2045-2322
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:This corrects the article DOI: 10.1038/srep30792.
[Pt] Publication type:PUBLISHED ERRATUM
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1038/srep46952

  4 / 1677 MEDLINE  
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[PMID]: 29490614
[Au] Autor:Trickett J; Heald M; Oliver C; Richards C
[Ad] Address:Department of Health Sciences, College of Life Sciences, George Davies Centre, University of Leicester, Leicester, LE1 7RH, UK. jkt12@leicester.ac.uk.
[Ti] Title:A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex.
[So] Source:J Neurodev Disord;10(1):9, 2018 Mar 01.
[Is] ISSN:1866-1955
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC). Phenotypic sleep profiles for these groups may implicate different pathways to sleep disturbance. At present, cross-group comparisons that might elucidate putative phenotypic sleep characteristics are limited by measurement differences between studies. In this study, a standardised questionnaire was administered across groups affording comparison of the prevalence and profile of sleep disturbance between groups and contrast to chronologically age-matched typically developing (TD) peers. METHODS: The modified version of Simonds and Parraga's sleep questionnaire, adapted for use in children with intellectual disabilities, was employed to assess sleep disturbance profiles in children aged 2-15 years with SMS (n = 26), AS (n = 70), ASD (n = 30), TSC (n = 20) and a TD contrast group (n = 47). Associations between sleep disturbance and age, obesity, health conditions and overactivity/impulsivity were explored for each neurodevelopmental disorder group. RESULTS: Children with SMS displayed severe night waking (81%) and early morning waking (73%). In contrast, children with ASD experienced difficulties with sleep onset (30%) and sleep maintenance (43%). Fewer children with ASD (43%) and AS (46%) experienced severe night waking compared to children with SMS (both p < .01). Higher sleep-disordered breathing scores were identified for children with SMS (p < .001) and AS (p < .001) compared to the TD group. Sleep disturbance in children with AS and TSC was associated with poorer health. Children experiencing symptoms indicative of gastro-oesophageal reflux had significantly higher sleep-disordered breathing scores in the AS, SMS and ASD groups (all p < .01). A number of associations between overactivity, impulsivity, gastro-oesophageal reflux, age and sleep disturbance were found for certain groups. CONCLUSIONS: These data reveal syndrome-specific profiles of sleep disturbance. The divergent associations between sleep parameters and person characteristics, specifically symptoms of gastro-oesophageal reflux, overactivity and impulsivity and age, implicate aetiology-specific mechanisms underpinning sleep disturbance. The differences in prevalence, severity and mechanisms implicated in sleep disturbance between groups support a syndrome-sensitive approach to assessment and treatment of sleep disturbance in children with neurodevelopmental disorders.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review
[do] DOI:10.1186/s11689-018-9226-0

  5 / 1677 MEDLINE  
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[PMID]: 29425059
[Au] Autor:Ehrhart F; Janssen KJM; Coort SL; Evelo CT; Curfs LMG
[Ad] Address:a GCK , Maastricht University Medical Centre , Maastricht , The Netherlands.
[Ti] Title:Prader-Willi syndrome and Angelman syndrome: Visualisation of the molecular pathways for two chromosomal disorders.
[So] Source:World J Biol Psychiatry;:1-13, 2018 Mar 01.
[Is] ISSN:1814-1412
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVES: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two syndromes that are caused by the same chromosomal deletion on 15q11.2-q13. Due to methylation patterns, different genes are responsible for the two distinct phenotypes resulting in the disorders. Patients of both disorders exhibit hypotonia in neonatal stage, delay in development and hypopigmentation. Typical features for PWS include hyperphagia, which leads to obesity, the major cause of mortality, and hypogonadism. In AS, patients suffer from a more severe developmental delay, they have a distinctive behaviour that is often described as unnaturally happy, and a tendency for epileptic seizures. For both syndromes, we identified and visualised molecular downstream pathways of the deleted genes that could give insight on the development of the clinical features. METHODS: This was done by consulting literature, genome browsers and pathway databases to identify molecular interactions and to construct downstream pathways. RESULTS: A pathway visualisation was created and uploaded to the open pathway database WikiPathways covering all molecular pathways that were found. CONCLUSIONS: The visualisation of the downstream pathways of PWS- and AS-deleted genes shows that some of the typical symptoms are caused by multiple genes and reveals critical gaps in the current knowledge.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:Publisher
[do] DOI:10.1080/15622975.2018.1439594

  6 / 1677 MEDLINE  
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[PMID]: 29350262
[Au] Autor:Tomei KL; Mau CY; Ghali M; Pak J; Goldstein IM
[Ad] Address:University Hospitals Case Medical Center, Rainbow Babies and Children's Hospital, Cleveland, OH, USA.
[Ti] Title:Vagal nerve stimulation for medically refractory epilepsy in Angelman syndrome: a series of three cases.
[So] Source:Childs Nerv Syst;34(3):395-400, 2018 Mar.
[Is] ISSN:1433-0350
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:BACKGROUND: We describe three children with Angelman syndrome and medically refractory epilepsy. METHODS: Case series of three pediatric patients with Angelman syndrome and medically refractory epilepsy. All three patients failed medical treatment and were recommended for vagal nerve stimulator (VNS) implantation. RESULTS: Following VNS implantation, all three patients experienced reduction in seizure frequency greater than that afforded by medication alone. CONCLUSION: We present vagal nerve stimulator implantation as a viable treatment option for medically refractory epilepsy associated with Angelman syndrome.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1801
[Cu] Class update date: 180219
[Lr] Last revision date:180219
[St] Status:In-Data-Review
[do] DOI:10.1007/s00381-018-3723-z

  7 / 1677 MEDLINE  
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[PMID]: 29266714
[Au] Autor:Leach PT; Crawley JN
[Ad] Address:MIND Institute, Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, California.
[Ti] Title:Touchscreen learning deficits in Ube3a, Ts65Dn and Mecp2 mouse models of neurodevelopmental disorders with intellectual disabilities.
[So] Source:Genes Brain Behav;, 2017 Dec 20.
[Is] ISSN:1601-183X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Mutant mouse models of neurodevelopmental disorders with intellectual disabilities provide useful translational research tools, especially in cases where robust cognitive deficits are reproducibly detected. However, motor, sensory and/or health issues consequent to the mutation may introduce artifacts that preclude testing in some standard cognitive assays. Touchscreen learning and memory tasks in small operant chambers have the potential to circumvent these confounds. Here we use touchscreen visual discrimination learning to evaluate performance in the maternally derived Ube3a mouse model of Angelman syndrome, the Ts65Dn trisomy mouse model of Down syndrome, and the Mecp2 mouse model of Rett syndrome. Significant deficits in acquisition of a 2-choice visual discrimination task were detected in both Ube3a and Ts65Dn mice. Procedural control measures showed no genotype differences during pretraining phases or during acquisition. Mecp2 males did not survive long enough for touchscreen training, consistent with previous reports. Most Mecp2 females failed on pretraining criteria. Significant impairments on Morris water maze spatial learning were detected in both Ube3a and Ts65Dn, replicating previous findings. Abnormalities on rotarod in Ube3a, and on open field in Ts65Dn, replicating previous findings, may have contributed to the observed acquisition deficits and swim speed abnormalities during water maze performance. In contrast, these motor phenotypes do not appear to have affected touchscreen procedural abilities during pretraining or visual discrimination training. Our findings of slower touchscreen learning in 2 mouse models of neurodevelopmental disorders with intellectual disabilities indicate that operant tasks offer promising outcome measures for the preclinical discovery of effective pharmacological therapeutics.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180215
[Lr] Last revision date:180215
[St] Status:Publisher
[do] DOI:10.1111/gbb.12452

  8 / 1677 MEDLINE  
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[PMID]: 29423132
[Au] Autor:Urraca N; Hope K; Victor AK; Belgard TG; Memon R; Goorha S; Valdez C; Tran QT; Sanchez S; Ramirez J; Donaldson M; Bridges D; Reiter LT
[Ad] Address:1Department of Neurology, The University of Tennessee Health Science Center, 855 Monroe Ave., Link 415, Memphis, TN 38163 USA.
[Ti] Title:Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons.
[So] Source:Mol Autism;9:6, 2018.
[Is] ISSN:2040-2392
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Background: The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level. Method: Here, we use dental pulp stem cells (DPSC) from AS deletion, 15q Duplication, and neurotypical control subjects for whole transcriptome analysis. We identified 20 genes unique to AS neurons, 120 genes unique to 15q duplication, and 3 shared transcripts that were differentially expressed in DPSC neurons vs controls. Results: Copy number correlated with gene expression for most genes across the 15q11.2-q13.1 critical region. Two thirds of the genes differentially expressed in 15q duplication neurons were downregulated compared to controls including several transcription factors, while in AS differential expression was restricted primarily to the 15q region. Here, we show significant downregulation of the transcription factors and in neurons from 15q duplication, but not AS deletion subjects suggesting that disruptions in transcriptional regulation may be a driving factor in the autism phenotype in Dup15q syndrome. Downstream analysis revealed downregulation of the ASD associated genes and , both genes with FOXO1 binding sites. Genes upregulated in either Dup15q cortex or idiopathic ASD cortex both overlapped significantly with the most upregulated genes in Dup15q DPSC-derived neurons. Conclusions: Finding a significant increase in both and in Dup15q neurons and significant decrease in these two genes in AS deletion neurons may explain differences between AS deletion class and specific classes of AS mutation where is expressed at normal levels. Also, we identified an enrichment for FOXO1-regulated transcripts in Dup15q neurons including ASD-associated genes and indicating a possible connection between this syndromic form of ASD and idiopathic cases.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[St] Status:In-Data-Review
[do] DOI:10.1186/s13229-018-0191-y

  9 / 1677 MEDLINE  
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[PMID]: 29431654
[Au] Autor:Sidorov MS; Judson MC; Kim H; Rougie M; Ferrer AI; Nikolova VD; Riddick NV; Moy SS; Philpot BD
[Ad] Address:Department of Cell Biology & Physiology, University of North Carolina, Chapel Hill, NC 27599, USA.
[Ti] Title:Enhanced operant extinction and prefrontal excitability in a mouse model of Angelman syndrome.
[So] Source:J Neurosci;, 2018 Feb 05.
[Is] ISSN:1529-2401
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Angelman syndrome (AS), a neurodevelopmental disorder associated with intellectual disability, is caused by loss of maternal allele expression of in neurons. Mouse models of AS faithfully recapitulate disease phenotypes across multiple domains, including behavior. Yet in AS, there has been only limited study of behaviors encoded by the prefrontal cortex, a region broadly involved in executive function and cognition. Because cognitive impairment is a core feature of AS, it is critical to develop behavioral readouts of prefrontal circuit function in AS mouse models. One such readout is behavioral extinction, which has been well-described mechanistically and relies upon prefrontal circuits in rodents. Here we report exaggerated operant extinction in male AS model mice, concomitant with enhanced excitability in medial prefrontal neurons from male and female AS model mice. Abnormal behavior was specific to operant extinction, as two other prefrontally-dependent tasks (cued fear extinction and visuospatial discrimination) were largely normal in AS model mice. Inducible deletion of during adulthood was not sufficient to drive abnormal extinction, supporting the hypothesis that there is an early critical period for development of cognitive phenotypes in AS. This work represents the first formal experimental analysis of prefrontal circuit function in AS, and identifies operant extinction as a useful experimental paradigm for modeling cognitive aspects of AS in mice. Prefrontal cortex encodes "high-level" cognitive processes. Thus, understanding prefrontal function is critical in neurodevelopmental disorders where cognitive impairment is highly penetrant. Angelman syndrome is a neurodevelopmental disorder associated with speech and motor impairments, an outwardly happy demeanor, and intellectual disability. We describe a behavioral phenotype in a mouse model of Angelman syndrome and related abnormalities in prefrontal cortex function. We hypothesize that robust and reliable prefrontally-encoded behavior may be used to model cognitive impairments in Angelman syndrome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[St] Status:Publisher

  10 / 1677 MEDLINE  
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[PMID]: 29419854
[Au] Autor:Wang W; Hu C; Bi X; Yuan H
[Ad] Address:Hubei Provincial Maternal and Child Health Care Hospital, Wuhan, Hubei 430070, China; Guangzhou KingMed Center for Clinical Laboratory Co., Ltd., Guangzhou, Guangdong 510005, China. Email: haimingyuan@sina.cn.
[Ti] Title:[Analysis of 10 patients with duplications of 15q11q13 region and autism features].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;35(1):23-28, 2018 Feb 10.
[Is] ISSN:1003-9406
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVE To analyze the clinical and genetic features of 10 unrelated patients with duplications of 15q11q13 region and autism features.METHODS Karyotyping,chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for the patients and their parents.RESULTS Eight patients presented with a supernumerary marker chromosome (SMC) of unknown origin by G-banding analysis and triplication of the 15q11q13 region by high-resolution CMA analysis. Two remaining patients had normal karyotypes but duplications of the 15q11q13 region. All duplications have encompassed the Prader Willi/Angelman syndrome critical region (PWACR). Similar gains in copy number were not detected among the parents of the patients,suggesting a de novo origin for them. Analysis of SNP-array data of the family trios using Chromosome Analysis Suite Software found that the copy number gains have originated from the mothers.The diagnosis of 15q11q13 duplication syndrome was ascertained. For patients with SMC detected by karyotyping analysis,a FISH assay using probes specific for the 15q11q13 region showed that such SMC also derived from chromosome 15q11q13 region and contained two copy numbers, which was consistent with the result of CMA.CONCLUSION Ten patients with autism and 15q11q13 duplications were identified with combined karyotyping, CMA and FISH analysis. A phenotype - genotype correlation was established.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:In-Data-Review
[do] DOI:10.3760/cma.j.issn.1003-9406.2018.01.005


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