Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15
European Journal of Human Genetics, Published online: 09 March 2020; doi:10.1038/s41431-020-0595-yCommon genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15 (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 9, 2020 Category: Genetics & Stem Cells Authors: Jasmin Beygo Christian Grosser Sabine Kaya Claudia Mertel Karin Buiting Bernhard Horsthemke Source Type: research
Angelman syndrome: from mouse models to therapy
Publication date: Available online 21 February 2020Source: NeuroscienceAuthor(s): Diana C. Rotaru, Edwin J. Mientjes, Ype ElgersmaAbstractThe UBE3A gene is part of the chromosome 15q11-q13 region that is frequently deleted or duplicated, leading to several neurodevelopmental disorders. Angelman syndrome (AS) is caused by the absence of functional maternally derived UBE3A protein, while the paternal UBE3A gene is present but silenced specifically in neurons. Patients with AS present with severe neurodevelopmental delay, with pronounced motor deficits, absence of speech, intellectual disability, epilepsy, and sleep problems....
Source: Neuroscience - February 22, 2020 Category: Neuroscience Source Type: research
Hippocampal Arc induces decay of object recognition memory in male mice
Publication date: Available online 19 February 2020Source: NeuroscienceAuthor(s): Vishnu Shandilya M C, Akash GautamAbstractActivity-regulated cytoskeleton-associated (Arc) gene is one of the effector neuronal immediate early genes (IEG) that is rapidly upregulated after neuronal activation and is involved in synaptic long-term potentiation and depression. In recent years, it has been implicated in several cognitive disorders, viz. Angelman syndrome, Alzheimer’s disease, fragile-X syndrome, etc. It undergoes quick transcription and highly regulated translation after exposure to a novel environment. Previous studies h...
Source: Neuroscience - February 20, 2020 Category: Neuroscience Source Type: research
JNK signaling activation in the Ube3a maternal deficient mouse model: Its specific inhibition prevents post-synaptic protein-enriched fraction alterations and cognitive deficits in Angelman Syndrome model.
This study sheds new light on the neuronal functions of UBE3A and offers new prospects for understanding the pathogenesis of UBE3A-related disorders. PMID: 32087286 [PubMed - as supplied by publisher] (Source: Neurobiology of Disease)
Source: Neurobiology of Disease - February 19, 2020 Category: Neurology Authors: Musi CA, Agrò G, Buccarello L, Camuso S, Borsello T Tags: Neurobiol Dis Source Type: research
Mirtazapine for Sleep Disturbances in Angelman Syndrome: A retrospective chart review of eight pediatric cases.
Journal of Clinical Sleep Medicine, Ahead of Print. (Source: Journal of Clinical Sleep Medicine : JCSM)
Source: Journal of Clinical Sleep Medicine : JCSM - February 5, 2020 Category: Sleep Medicine Authors: Emily HanzlikSarah A. KlingerRobert CarsonJessica DuisPediatric Neurology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN Medical Genetics & Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Source Type: research
Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome
Translational Psychiatry, Published online: 27 January 2020; doi:10.1038/s41398-020-0720-2Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome (Source: Translational Psychiatry)
Source: Translational Psychiatry - January 27, 2020 Category: Psychiatry Authors: E. L. Berg M. C. Pride S. P. Petkova R. D. Lee N. A. Copping Y. Shen A. Adhikari T. A. Fenton L. R. Pedersen L. S. Noakes B. J. Nieman J. P. Lerch S. Harris H. A. Born M. M. Peters P. Deng D. L. Cameron K. D. Fink U. Beitnere H. O ’Geen A. E. Anderson S Source Type: research
Cancers, Vol. 12, Pages 235: The Long Non-Coding RNA Prader Willi/Angelman Region RNA5 (PAR5) Is Downregulated in Anaplastic Thyroid Carcinomas Where It Acts as a Tumor Suppressor by Reducing EZH2 Activity
ierlorenzo Pallante Anaplastic thyroid carcinoma (ATC) represents one the most aggressive neoplasias in humans, and, nowadays, limited advances have been made to extend the survival and reduce the mortality of ATC. Thus, the identification of molecular mechanism underlying its progression is needed. Here, we evaluated the long non-coding RNA (lncRNA) expression profile of nine ATC in comparison with five normal thyroid tissues by a lncRNA microarray. By this analysis, we identified 19 upregulated and 28 downregulated lncRNAs with a fold change &gt;1.1 or &lt;&minus;1.1 and p-value &lt; 0...
Source: Cancers - January 17, 2020 Category: Cancer & Oncology Authors: Simona Pellecchia Romina Sepe Myriam Decaussin-Petrucci Cristina Ivan Masayoshi Shimizu Carmela Coppola Domenico Testa George Adrian Calin Alfredo Fusco Pierlorenzo Pallante Tags: Article Source Type: research
Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15
We present a girl with severe intellectual disability, developmental delay, distinctive facial features, and other neuropsychiatric features. Trio whole exome sequencing revealed a novel homozygous frameshift variant in AP4E1 [NM_007347.5:c.2412dupT:p.(Gly805Trpfs*8)] and uniparental isodisomy of chromosome 15 [iUPD(15)]. Single nucleotide polymorphism mapping analysis of exome data showed that the homozygous AP4E1 variant was derived from her heterozygous carrier father and unmasked by paternal iUPD(15). (Source: Brain and Development)
Source: Brain and Development - January 16, 2020 Category: Neurology Authors: Hiroaki Murakami, Tomoko Uehara, Yoshinori Tsurusaki, Yumi Enomoto, Yukiko Kuroda, Noriko Aida, Kenjiro Kosaki, Kenji Kurosawa Tags: Case Report Source Type: research
Augmentative and Alternative Communication Intervention for People With Angelman Syndrome: a Systematic Review
AbstractPurpose of ReviewAngelman syndrome is often associated with severe communication impairment indicating the need for augmentative and alternative communication (AAC) intervention. The present review sought to identify and summarize intervention studies on the use of augmentative and alternative communication for people with Angelman syndrome.Recent FindingsRecently, a specific communicative profile has been suggested for people with Angelman syndrome. To identify the usefulness of AAC to augment this profile, we conducted a systematic search of the literature. Nine studies were identified and summarized with respect...
Source: Current Developmental Disorders Reports - January 14, 2020 Category: Child Development Source Type: research
Evaluation of the safety and tolerability of a nutritional Formulation in patients with ANgelman Syndrome (FANS): study protocol for a randomized controlled trial
Ketogenic and low-glycemic-index diets are effective in treating drug-resistant seizures in children with Angelman syndrome. Cognition, mobility, sleep, and gastrointestinal health are intrinsically linked to ... (Source: Trials)
Source: Trials - January 9, 2020 Category: General Medicine Authors: Donna L. Herber, Edwin J. Weeber, Dominic P. D ’Agostino and Jessica Duis Tags: Study protocol Source Type: research
Gene therapy for Angelman Syndrome: Contemporary approaches and future endeavors.
CONCLUSION: Understanding UBE3A imprinting unravels the path to an etiologic treatment of AS. Gene therapy models tested on mice appeared less effective than anticipated pointing out that activation of paternal UBE3A cannot counteract the existing CNS defects. On the other hand, targeting abnormal downstream cell signaling pathways has provided promising rescue effects. Perhaps, combined reinstatement of paternal UBE3A expression with abnormal signaling pathways-oriented treatment is expected to provide better therapeutic effects. However, AS gene therapy remains debatable in pharmacoeconomics and ethics context. PMID...
Source: Current Gene Therapy - January 7, 2020 Category: Genetics & Stem Cells Authors: Tsagkaris C, Papakosta V, Miranda AV, Zacharopoulou L, Danilchenko V, Matiashova L, Dhar A Tags: Curr Gene Ther Source Type: research
Interventions to improve sleep for individuals with Angelman syndrome: A systematic review
ConclusionThis review found provisional evidence but weak evidence for the effectiveness of behavioral interventions, and mixed outcomes for the effectiveness of Melatonin for the treatment of sleep problems in AS. All 10 studies only achieved a suggestive level of certainty, therefore, further high-quality research is needed to evaluate interventions for the treatment of sleep problems in this population. (Source: Research in Developmental Disabilities)
Source: Research in Developmental Disabilities - December 26, 2019 Category: Disability Source Type: research
Sleep disorders in children with Angelman and Smith-Magenis syndromes: The assessment of potential causes of disrupted settling and night time waking
Publication date: February 2020Source: Research in Developmental Disabilities, Volume 97Author(s): Georgie Agar, Chris Oliver, Jayne Trickett, Lucy Licence, Caroline RichardsAbstractBackgroundSleep problems are common in Smith-Magenis (SMS) and Angelman syndromes (AS). Effectiveness of interventions depends on appropriate assessment, complicated by compromised self-report and health and behaviour difficulties. Studying settling and waking in these syndromes could inform assessment.AimsTo describe settling and waking behaviours in children at high-risk of sleep and health problems, using direct observation.Methods and proce...
Source: Research in Developmental Disabilities - December 13, 2019 Category: Disability Source Type: research
[De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria].
CONCLUSION: This is the first observation of a heterozygous mutation in the MBD5 gene associated with a neuronal migration disorder. PMID: 31820818 [PubMed - in process] (Source: Revista de Neurologia)
Source: Revista de Neurologia - December 12, 2019 Category: Neurology Authors: Castro-Gago M, Gómez-Lado C, Barros-Angueira F, Trujillo-Ariza MV, Fuentes-Pita P, López-Vázquez AM, Eirís-Puñal J Tags: Rev Neurol Source Type: research
Reflex micturition defecation epilepsy in Angelman syndrome
Consider seizures in the differential diagnosis of atypical or unusual behaviors in patients with genetic neurologic syndromes such as Angelman syndrome. Focal frontal lobe seizures can be mistaken for stereotyped behaviors, particularly when there is bilateral motor activity with preserved awareness, and are difficult to diagnose without video-EEG. (Source: Neurology Clinical Practice)
Source: Neurology Clinical Practice - December 9, 2019 Category: Neurology Authors: Pellinen, J., Hasan, H., Ortiz, N., Bluvstein, J., Miles, D. Tags: Developmental disorders, EEG; see Epilepsy/Seizures, All Epilepsy/Seizures, Epilepsy semiology, Partial seizures Case Source Type: research
Ocular findings and strabismus surgery outcomes in Chinese children with Angelman syndrome: Three case reports
This report aims to present the ophthalmological features, and identify the diagnosis and outcomes of strabismus surgery in AS patients. Diagnosis: Three children with exotropia were diagnosed with AS based on their typical clinical features. Interventions: All patients underwent multiplex ligation-dependent probe amplification (MLPA) analysis and accepted lateral rectus recession surgery with the assistance of intravenous combined inhalation anesthesia. Outcomes: The maternal heritage deletion of chromosome 15q11.2-q13 was verified in all patients by MLPA. All patients with strabismus could not cooperate during t...
Source: Medicine - December 1, 2019 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Multi-Method Assessment of Sleep in Children With Angelman Syndrome: A Case –Controlled Study
Conclusions: This study reports the largest objective dataset of sleep quality parameters in children with AS. Sleep quality in this group was characterised by poor efficiency and significant intra- and inter-individual variability that warrants further investigation. This variability should inform assessment and intervention for sleep in children with AS, as averages of total sleep, even across a 7 day period may not capture the difficulties with night waking highlighted by parental questionnaire report. (Source: Frontiers in Psychiatry)
Source: Frontiers in Psychiatry - November 29, 2019 Category: Psychiatry Source Type: research
The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons
ConclusionsWe identified a specific in vitro deficit in axonal topographical guidance due selectively to the loss of UBE3A, and we further demonstrate that this defective guidance can be rescued to a certain extent by pharmacological or genetic treatment strategies. Overall, cytoskeleton dynamics emerge as important partners in UBE3A-mediated contact guidance responses. These results support the view that UBE3A-related deficits in early neuronal morphogenesis may lead to defective neuronal connectivity and plasticity. (Source: Molecular Autism)
Source: Molecular Autism - November 29, 2019 Category: Molecular Biology Source Type: research
Behavioral Evaluation of Angelman Syndrome Mice at Older Ages
Publication date: Available online 12 November 2019Source: NeuroscienceAuthor(s): Rebecca Dutta, Jacqueline N. CrawleyAbstractAngelman syndrome is a neurodevelopmental disorder presenting with severe deficits in motor, speech, and cognitive abilities. The primary genetic cause of Angelman syndrome is a maternally transmitted mutation in the Ube3a gene, which has been successfully modeled in Ube3a mutant mice. Phenotypes have been extensively reported in young adult Ube3a mice. Because symptoms continue throughout life in Angelman syndrome, we tested multiple behavioral phenotypes of male Ube3a mice and WT littermate contro...
Source: Neuroscience - November 14, 2019 Category: Neuroscience Source Type: research
Cannabidiol attenuates seizures and EEG abnormalities in Angelman syndrome model mice
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, lack of speech, ataxia, EEG abnormalities, and epilepsy. Seizures in individuals with AS are common, debilitating, and often drug resistant. Thus, there is an unmet need for better treatment options. Cannabidiol (CBD), a major phytocannabinoid constituent of cannabis, has shown antiseizure activity and behavioral benefits in preclinical and clinical studies for some disorders associated with epilepsy, suggesting that the same could be true for AS. Here, we show that acute CBD (100 mg/kg) treatment attenuated hyperthermia- and ...
Source: Journal of Clinical Investigation - November 5, 2019 Category: Biomedical Science Authors: Bin Gu, Manhua Zhu, Madison R. Glass, Marie Rougié, Viktoriya D. Nikolova, Sheryl S. Moy, Paul R. Carney, Benjamin D. Philpot Source Type: research
An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study
The objective of this study is to describe variations in the healthcare resource utilization (HRU) among individuals with Angelman syndrome (AS) over the first 12 years of life. Data for this study were drawn ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 4, 2019 Category: Internal Medicine Authors: Nasreen Khan, Raquel Cabo, Wen-Hann Tan, Regina Tayag and Lynne M. Bird Tags: Research Source Type: research
Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome.
CONCLUSIONS: These neurophysiological findings suggest a subcortical generator of myoclonus in AS. SIGNIFICANCE: Myoclonus in AS has not a cortical origin as previously hypothesised. PMID: 31704627 [PubMed - as supplied by publisher] (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - October 24, 2019 Category: Neurology Authors: Ferlazzo E, Franceschetti S, Gasparini S, Elia M, Canafoglia L, Pantaleoni C, Ascoli M, D'Agostino T, Sueri C, Ferrigno G, Panzica F, Cianci V, Aguglia U Tags: Clin Neurophysiol Source Type: research
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome
Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13. AS ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 22, 2019 Category: Internal Medicine Authors: Julia Han, Terry Jo Bichell, Stephanie Golden, Irina Anselm, Susan Waisbren, Carlos A. Bacino, Sarika U. Peters, Lynne M. Bird and Virginia Kimonis Tags: Research Source Type: research
First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A > G mutation in the MT-RNR1 gene associated with Angelman-like syndrome.
First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A>G mutation in the MT-RNR1 gene associated with Angelman-like syndrome. Int J Dev Neurosci. 2019 Oct 21;: Authors: Kharrat M, Triki C, Maalej M, Ncir S, Ammar M, Kammoun F, Fakhfakh F Abstract Mutations in Methyl-CpG-Binding protein 2 (MECP2), located on Xq28 and encoding a methyl CpG binding protein, are commonly related to Rett syndrome. However, MECP2 mutations have already been reported in patients with neurodevelopmental abnormalities such as X-linked mental retardation, severe neonatal encephalopathy an...
Source: International Journal of Developmental Neuroscience - October 21, 2019 Category: Neuroscience Authors: Kharrat M, Triki C, Maalej M, Ncir S, Ammar M, Kammoun F, Fakhfakh F Tags: Int J Dev Neurosci Source Type: research
Construction of a lncRNA-miRNA-mRNA network to determine the regulatory roles of lncRNAs in psoriasis.
Authors: Zhou Q, Yu Q, Gong Y, Liu Z, Xu H, Wang Y, Shi Y Abstract Psoriasis is a chronic inflammatory skin disorder that impairs the quality of life of affected patients. Emerging studies indicate that certain long non-coding RNAs (lncRNAs) have important roles in psoriasis. However, the exact functions of lncRNAs and their regulatory mechanisms as competitive endogenous RNAs (ceRNAs) in psoriasis have remained to be fully elucidated. In the present study, differentially expressed lncRNAs, microRNAs (miRNAs) and mRNAs were identified by analyzing public datasets, and a psoriasis-associated lncRNA-miRNA-mRNA networ...
Source: Experimental and Therapeutic Medicine - October 17, 2019 Category: General Medicine Tags: Exp Ther Med Source Type: research
Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes
ConclusionsBehaviours which may be characteristic of PTHS include those associated with ASD, including deficits in social communication and reciprocal social interaction. High rates of aggression and self-injurious behaviour compared to other genetic syndrome groups are of potential clinical significance and warrant further investigation. An atypical sensory profile may also be evident in PTHS. The specific aetiology of and relationships between different behavioural and psychological atypicalities in PTHS, and effective clinical management of these, present potential topics for future research. (Source: Journal of Neurode...
Source: Journal of Neurodevelopmental Disorders - October 5, 2019 Category: Neurology Source Type: research
Happy Puppet Syndrome: A Case Report of Anesthetic Management.
Authors: Campero L Abstract Angelman syndrome (AS) is a rare neurogenetic disorder that results from an abnormality of the maternal chromosome 15. Clinical presentations for AS include developmental delays, seizure disorders, ataxia, truncal hypotonia, scoliosis, structural cardiac abnormalities, hyperactive tendon reflexes, absent speech, and craniofacial anomalies. Patients with AS also may have vagal hypertonia, which can result in refractory bradycardia in the perioperative setting. Mutations of chromosome 15 can lead to abnormalities in γ-aminobutyric acid A (GABAA) receptors, through which numerous anes...
Source: Journal of Studies on Alcohol and Drugs - October 4, 2019 Category: Addiction Tags: J Stud Alcohol Drugs Source Type: research
Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Sleep and EEG biomarkers as avenues toward new treatment approaches in Angelman syndrome
Neuropsychopharmacology, Published online: 09 September 2019; doi:10.1038/s41386-019-0517-2Sleep and EEG biomarkers as avenues toward new treatment approaches in Angelman syndrome (Source: Neuropsychopharmacology)
Source: Neuropsychopharmacology - September 9, 2019 Category: Neurology Authors: Christopher J. McDougle Christopher J. Keary Source Type: research
GSE119415 Evaluation of gene expression changes in wild type (C57BL/6) vs Angelman syndrome (AS) model mice
Contributors : Ryohei Furumai ; Kota Tamada ; Xiaoxi Liu ; Toru TakumiSeries Type : Expression profiling by arrayOrganism : Mus musculusWe aimed to identify differentially expressed genes in hippocampus of AS mice compared with that of WT mice. The analysis revealed around 120 genes were significantly affected at the mRNA levels in AS mouse brain.We found that immune-related genes were enriched in genes that were upregulated in AS. Particularly, the genes downstream of an anti-virus transcription factor, IRF family, were affected in AS brain, suggesting that IRF-dependent transcription is regulated by UBE3A (Source: GEO: G...
Source: GEO: Gene Expression Omnibus - September 3, 2019 Category: Genetics & Stem Cells Tags: Expression profiling by array Mus musculus Source Type: research
HAP1 is an in vivo UBE3A target that augments autophagy in a mouse model of Angelman syndrome.
Abstract Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal mutation and paternal imprinting of the gene encoding UBE3A, an E3 ubiquitin ligase. Although several potential target proteins of UBE3A have been reported, how these proteins regulate neuronal development remains unclear. We performed a large-scale quantitative proteomic analysis using stable-isotope labeling of amino acids in mammals (SILAM) in mice with maternal Ube3a mutation. We identified huntingtin (Htt)-associated protein (HAP1), a protein that is involved in Huntington's disease (HD), as a new target of UBE3A. We de...
Source: Neurobiology of Disease - August 21, 2019 Category: Neurology Authors: Wang T, Wang J, Wang J, Mao L, Tang B, Vanderklish PW, Liao X, Xiong ZQ, Liao L Tags: Neurobiol Dis Source Type: research
Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome
ConclusionClinical work ‐up of an individual with developmental delay, hyperactivity, anxiety, and an uncharacteristically happy demeanor should prompt methylation studies to rule out mAS. We expand the phenotypic spectrum of AS to include features that overlap with Prader‐Willi such as hyperphagia. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 10, 2019 Category: Genetics & Stem Cells Authors: Robert P. Carson, Lynne Bird, Anna K. Childers, Ferrin Wheeler, Jessica Duis Tags: ORIGINAL ARTICLE Source Type: research
α1-Na/K-ATPase inhibition rescues aberrant dendritic calcium dynamics and memory deficits in the hippocampus of an Angelman syndrome mouse model
Publication date: Available online 8 August 2019Source: Progress in NeurobiologyAuthor(s): Prudhvi Raj Rayi, Lee Koyavski, Darpan Chakraborty, Alexei Bagrov, Hanoch KaphzanAbstractAngelman syndrome (AS) is a neurodevelopmental disorder caused by the loss of function of the maternal copy of the UBE3A gene. Previous studies reported an increase in α1-Na/K-ATPase (α1-NaKA) expression in the AS hippocampus at the age of 2 weeks as the initial and isolated molecular alteration. This increase was further implied upon actuating much of the hippocampal-related deficits in an AS mouse model, although the underlying mech...
Source: Progress in Neurobiology - August 9, 2019 Category: Neuroscience Source Type: research
Analysis of the GCG repeat length in NIPA1 gene in C9orf72 -mediated ALS in a large Italian ALS cohort
In conclusion, we did not confirm a role ofNIPA1 repeat length as a modifier of theC9orf72 ALS disease risk. (Source: Neurological Sciences)
Source: Neurological Sciences - July 9, 2019 Category: Neurology Source Type: research
Pseudo hypsarrhythmia: An early marker of angelman syndrome
Ananthanarayanan Kasinathan, Sumeet Dhawan, Renu Suthar, Naveen SankhyanAnnals of Indian Academy of Neurology 2019 22(3):359-361 (Source: Annals of Indian Academy of Neurology)
Source: Annals of Indian Academy of Neurology - July 1, 2019 Category: Neurology Authors: Ananthanarayanan Kasinathan Sumeet Dhawan Renu Suthar Naveen Sankhyan Source Type: research
Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
European Journal of Human Genetics, Published online: 24 June 2019; doi:10.1038/s41431-019-0435-0Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 24, 2019 Category: Genetics & Stem Cells Authors: Jasmin Beygo Karin Buiting Simon C. Ramsden Rachael Ellis Jill Clayton-Smith Deniz Kanber Source Type: research
UBE3A-mediated PTPA ubiquitination and degradation regulate PP2A activity and dendritic spine morphology [Neuroscience]
Deficiency in the E3 ubiquitin ligase UBE3A leads to the neurodevelopmental disorder Angelman syndrome (AS), while additional dosage of UBE3A is linked to autism spectrum disorder. The mechanisms underlying the downstream effects of UBE3A gain or loss of function in these neurodevelopmental disorders are still not well understood, and effective... (Source: Proceedings of the National Academy of Sciences)
Source: Proceedings of the National Academy of Sciences - June 18, 2019 Category: Science Authors: Jie Wang, Sen-Sen Lou, Tingting Wang, Rong-Jie Wu, Guangying Li, Miao Zhao, Bin Lu, Yi-Yan Li, Jing Zhang, Xuewen Cheng, Ya Shen, Xing Wang, Zhi-Chuan Zhu, Ming-Jie Li, Toru Takumi, Hui Yang, Xiang Yu, Lujian Liao, Zhi-Qi Xiong Tags: Biological Sciences Source Type: research
Whole exome sequencing and methylation ‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients.
Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients. Mol Med Rep. 2019 Jun 05;: Authors: Li H, Yang H, Lv N, Ma C, Li J, Shang Q Abstract Angelman syndrome (AS) is a congenital neuro-developmental disorder typically occurring due to functional defects of the UBE3A gene caused by uniparental disomy (UPD), translocation or single gene mutation. UBE3A gene exhibits imprinting expression, and only maternal inherited alleles express functional UBE3A protein in t...
Source: Molecular Medicine Reports - June 9, 2019 Category: Molecular Biology Tags: Mol Med Rep Source Type: research
CYFIP1 overexpression increases fear response in mice but does not affect social or repetitive behavioral phenotypes
ConclusionOverall, this research identifies the behavioral and molecular consequences ofCYFIP1 overexpression and how they contribute to the variable phenotype seen in Dup15q syndrome and in ASD patients with excess CYFIP1. (Source: Molecular Autism)
Source: Molecular Autism - June 7, 2019 Category: Molecular Biology Source Type: research
Dual diagnosis causing severe phenotype in a patient with Angelman syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Possibility of early diagnosis in a fetus affected by Prader ‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned.
Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned. Mol Med Rep. 2019 May 15;: Authors: Dong Y, Liu S, Li J, Li J, Chen Q, Luo J, Li C, Li H, Qi H, Li R Abstract Prader‑Willi syndrome (PWS), a complicated neurodevelopmental disorder arising from errors in genomic imprinting, is characterized by evident hypotonia along with feeding difficulties and the absence of crying in early infancy. Hyperphagia and obesity are not uncommon in patients with PWS, usually accompanied by intellectual disability, cognitive impairment, shor...
Source: Molecular Medicine Reports - May 23, 2019 Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Taurine and its analogs in neurological disorders: Focus on therapeutic potential and molecular mechanisms
This article also addresses the neuropharmacological potential of taurine analogs.Graphical abstract (Source: Redox Biology)
Source: Redox Biology - May 22, 2019 Category: Biology Source Type: research
Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes
ConclusionsTaken together, these results emphasize that UBE3A critically impacts early brain development, but plays a more limited role in adulthood. Our findings provide important considerations for upcoming clinical trials in which UBE3A gene expression is reactivated and suggest that even transient UBE3A reinstatement during a critical window of early development is likely to prevent most adverse Angelman syndrome phenotypes. However, sustained UBE3A expression into adulthood is probably needed for optimal clinical benefit. (Source: Molecular Autism)
Source: Molecular Autism - May 22, 2019 Category: Molecular Biology Source Type: research
Using Behavioral Approaches to Assess Memory, Imitation and Motor Performance in Children with Angelman Syndrome: Results of a Pilot Study
. (Source: Developmental Neurorehabilitation)
Source: Developmental Neurorehabilitation - May 22, 2019 Category: Neurology Authors: Jane Summers Source Type: research
Response to vocal music in Angelman syndrome contrasts with Prader-Willi syndrome
We report the necessary complementary pattern here: individuals with Angelman syndrome, a genomic imprinting disorder resulting from increased relative paternal genetic contribution, demonstrate a relatively reduced relaxation response to song, suggesting increased demand for parental attention. These results support the extension of genetic conflict theories to psychological resources like parental attention. (Source: Evolution and Human Behavior)
Source: Evolution and Human Behavior - May 19, 2019 Category: Psychiatry & Psychology Source Type: research
Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study
ConclusionsThis study shows that individuals with AS have high HRU/STU, and apart from a few differences, HRU/STU was similar across molecular etiology. These results reflect usage in younger individuals and studies that describe HRU/STU in older individuals are needed. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 14, 2019 Category: Genetics & Stem Cells Authors: Nasreen Khan, Raquel Cabo, Wen ‐Hann Tan, Regina Tayag, Lynne M. Bird Tags: ORIGINAL ARTICLE Source Type: research
GSE130883 Sex-Dependent Sensory Phenotypes and Related Transcriptomic Expression Profiles Are Differentially Affected by Angelman Syndrome
Contributors : Lee Koyavski ; Lilach Simchi ; Lital Sharvit ; Hanoch Kaphzan ; Julia Panov ; Prudhvi R Rayi ; Yonatan FeuermannSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusAngelman syndrome (AS) is a genetic disorder which entails autism, intellectual disability, lack of speech, motor deficits, andseizure susceptibility. It is caused by the lack of UBE3A protein expression, which is an E3-ubiquitin ligase. Despite AS equalprevalence in males and females, not much data on how sex affects the syndrome was reported. In the herein study, we thoroughlycharacterized many behavioral pheno...
Source: GEO: Gene Expression Omnibus - May 9, 2019 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Detailed Dissection of UBE3A-Mediated DDI1 Ubiquitination
Nagore Elu1, Nerea Osinalde2, Javier Beaskoetxea1, Juanma Ramirez1, Benoit Lectez1, Kerman Aloria3, Jose Antonio Rodriguez4, Jesus M. Arizmendi1 and Ugo Mayor1,5* 1Department of Biochemistry and Molecular Biology, Faculty of Science and Technology, University of the Basque Country (UPV/EHU), Leioa, Spain 2Department of Biochemistry and Molecular Biology, Faculty of Pharmacy, University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, Spain 3Proteomics Core Facility-SGIKER, University of the Basque Country (UPV/EHU), Leioa, Spain 4Department of Genetics, Physical Anthropology and Animal Physiology, University of ...
Source: Frontiers in Physiology - May 3, 2019 Category: Physiology Source Type: research