Related references
Note: Only part of the references are listed.CRISPR/Cas9 directed to the Ube3a antisense transcript improves Angelman syndrome phenotype in mice
Ralf S. Schmid et al.
JOURNAL OF CLINICAL INVESTIGATION (2021)
Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome
N. A. Copping et al.
MOLECULAR AUTISM (2021)
Early Developmental EEG and Seizure Phenotypes in a Full Gene Deletion of Ubiquitin Protein Ligase E3A Rat Model of Angelman Syndrome
Heather A. Born et al.
ENEURO (2021)
Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells
Anna Adhikari et al.
HUMAN MOLECULAR GENETICS (2021)
Prenatal Treatment Path for Angelman Syndrome and Other Neurodevelopmental Disorders
Mark J. Zylka
AUTISM RESEARCH (2020)
Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion
Andie Dodge et al.
AUTISM RESEARCH (2020)
Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome
E. L. Berg et al.
TRANSLATIONAL PSYCHIATRY (2020)
Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome
Angela John Thurman et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2020)
A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome
Elizabeth Berry-Kravis et al.
PEDIATRIC NEUROLOGY (2020)
PKA and Ube3a regulate SK2 channel trafficking to promote synaptic plasticity in hippocampus: Implications for Angelman Syndrome
Jiandong Sun et al.
SCIENTIFIC REPORTS (2020)
Cas9 gene therapy for Angelman syndrome trapsUbe3a-ATSlong non-coding RNA
Justin M. Wolter et al.
NATURE (2020)
High-voltage, diffuse delta rhythms coincide with wakeful consciousness and complexity in Angelman syndrome (vol 6, niaa005, 2020)
Joel Frohlich et al.
NEUROSCIENCE OF CONSCIOUSNESS (2020)
Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome
Daniel G. Glaze et al.
NEUROLOGY (2019)
A bipartite boundary element restricts UBE3A imprinting to mature neurons
Jack S. Hsiao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)
Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes
Monica Sonzogni et al.
MOLECULAR AUTISM (2019)
Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study
Nasreen Khan et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2019)
UBE3A-mediated PTPA ubiquitination and degradation regulate PP2A activity and dendritic spine morphology
Jie Wang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)
Simvastatin Restores HDAC1/2 Activity and Improves Behavioral Deficits in Angelman Syndrome Model Mouse
Vipendra Kumar et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2019)
Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes
Joel Frohlich et al.
BIOLOGICAL PSYCHIATRY (2019)
Potassium channel dysfunction in human neuronal models of Angelman syndrome
Alfred Xuyang Sun et al.
SCIENCE (2019)
Lovastatin, not Simvastatin, Corrects Core Phenotypes in the Fragile X Mouse Model
Melania Muscas et al.
ENEURO (2019)
Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome
Juanma Ramirez et al.
HUMAN MOLECULAR GENETICS (2018)
Network Analysis of UBE3A/E6AP-Associated Proteins Provides Connections to Several Distinct Cellular Processes
Gustavo Martinez-Noel et al.
JOURNAL OF MOLECULAR BIOLOGY (2018)
Lovastatin suppresses hyperexcitability and seizure in Angelman syndrome model
Leeyup Chung et al.
NEUROBIOLOGY OF DISEASE (2018)
Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons
Nora Urraca et al.
MOLECULAR AUTISM (2018)
Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study
Hanna den Bakker et al.
MOLECULAR AUTISM (2018)
A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study)
Belen Ruiz-Antoran et al.
ORPHANET JOURNAL OF RARE DISEASES (2018)
A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants
Monica Sonzogni et al.
MOLECULAR AUTISM (2018)
Subcellular organization of UBE3A in human cerebral cortex
Alain C. Burette et al.
MOLECULAR AUTISM (2018)
Identification of spatiotemporal gait parameters and pressure-related characteristics in children with Angelman syndrome: A pilot study
Joseph C. Grieco et al.
JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES (2018)
Subcellular Organization of UBE3A in Neurons
Alain C. Burette et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2017)
UBE3A-mediated regulation of imprinted genes and epigenome-wide marks in human neurons
S. Jesse Lopez et al.
EPIGENETICS (2017)
Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis
Michael S. Sidorov et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2017)
FDA-Approved Oligonucleotide Therapies in 2017
Cy A. Stein et al.
MOLECULAR THERAPY (2017)
Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a
Masaaki Sato
FRONTIERS IN CELLULAR NEUROSCIENCE (2017)
Genomic imprinting does not reduce the dosage of UBE3A in neurons
Paul R. Hillman et al.
EPIGENETICS & CHROMATIN (2017)
Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells
James J. Fink et al.
NATURE COMMUNICATIONS (2017)
Strain-dependence of the Angelman Syndrome phenotypes in Ube3a maternal deficiency mice
Heather A. Born et al.
SCIENTIFIC REPORTS (2017)
Angelman Syndrome: Identification and Management
Daniela Bonello et al.
NEONATAL NETWORK (2017)
Gene-targeting pharmaceuticals for single-gene disorders
Arthur L. Beaudet et al.
HUMAN MOLECULAR GENETICS (2016)
Angelman syndrome: Current and emerging therapies in 2016
Wen-Hann Tan et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2016)
Rodent models in neuroscience research: is it a rat race?
Bart Ellenbroek et al.
DISEASE MODELS & MECHANISMS (2016)
Protein Delivery of an Artificial Transcription Factor Restores Widespread Ube3a Expression in an Angelman Syndrome Mouse Brain
Barbara J. Bailus et al.
MOLECULAR THERAPY (2016)
Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1
Jonathan M. Payne et al.
NEUROLOGY (2016)
GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility
Matthew C. Judson et al.
NEURON (2016)
THE ROLE OF INSULIN-LIKE GROWTH FACTOR 1 (IGF-1) IN BRAIN DEVELOPMENT, MATURATION AND NEUROPLASTICITY
Adam H. Dyer et al.
NEUROSCIENCE (2016)
Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing
Jana Stanurova et al.
SCIENTIFIC REPORTS (2016)
Insulin-Like Growth Factor 1 and Related Compounds in the Treatment of Childhood-Onset Neurodevelopmental Disorders
Cyrus Vahdatpour et al.
FRONTIERS IN NEUROSCIENCE (2016)
Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice
Kelly A. Jones et al.
SCIENTIFIC REPORTS (2016)
The role for IGF-1-derived small neuropeptides as a therapeutic target for neurological disorders
Jian Guan et al.
EXPERT OPINION ON THERAPEUTIC TARGETS (2015)
Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model
Caroline F. Bruinsma et al.
JOURNAL OF CLINICAL INVESTIGATION (2015)
Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model
Sara Silva-Santos et al.
JOURNAL OF CLINICAL INVESTIGATION (2015)
Angelman syndrome-associated ubiquitin ligase UBE3A/E6AP mutants interfere with the proteolytic activity of the proteasome
V. Tomaic et al.
CELL DEATH & DISEASE (2015)
Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders
Janine M. LaSalle et al.
EPIGENOMICS (2015)
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA
Linyan Meng et al.
NATURE (2015)
An open-label pilot trial of minocycline in children as a treatment for Angelman syndrome
Joseph C. Grieco et al.
BMC NEUROLOGY (2014)
The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders
Barbara J. Bailus et al.
BMC NEUROSCIENCE (2014)
Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs
Estela Cruvinel et al.
HUMAN MOLECULAR GENETICS (2014)
Mutation Update for UBE3A Variants in Angelman Syndrome
Bekim Sadikovic et al.
HUMAN MUTATION (2014)
Allelic Specificity of Ube3a Expression in the Mouse Brain during Postnatal Development
Matthew C. Judson et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2014)
E6AP in the Brain: One Protein, Dual Function, Multiple Diseases
Jimmy El Hokayem et al.
MOLECULAR NEUROBIOLOGY (2014)
Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model
Irina Filonova et al.
LEARNING & MEMORY (2014)
Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1
Noelle D. Germain et al.
MOLECULAR AUTISM (2014)
High MMP-9 Activity Levels in Fragile X Syndrome are Lowered by Minocycline
Magdalena Dziembowska et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Behavioral deficits in an Angelman syndrome model: Effects of genetic background and age
Hsien-Sung Huang et al.
BEHAVIOURAL BRAIN RESEARCH (2013)
Minocycline: far beyond an antibiotic
N. Garrido-Mesa et al.
BRITISH JOURNAL OF PHARMACOLOGY (2013)
The Angelman Syndrome Protein Ube3a Is Required for Polarized Dendrite Morphogenesis in Pyramidal Neurons
Sheng Miao et al.
JOURNAL OF NEUROSCIENCE (2013)
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts
D. Moreno-De-Luca et al.
MOLECULAR PSYCHIATRY (2013)
NON-CODING RNA Gene regulation by antisense transcription
Vicent Pelechano et al.
NATURE REVIEWS GENETICS (2013)
Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model
Linyan Meng et al.
PLOS GENETICS (2013)
Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay
Ozlem Bozdagi et al.
MOLECULAR AUTISM (2013)
Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a
Linyan Meng et al.
HUMAN MOLECULAR GENETICS (2012)
Defective glucocorticoid hormone receptor signaling leads to increased stress and anxiety in a mouse model of Angelman syndrome
Swetha K. Godavarthi et al.
HUMAN MOLECULAR GENETICS (2012)
Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome
Thorfinn T. Riday et al.
JOURNAL OF CLINICAL INVESTIGATION (2012)
Identification and Proteomic Analysis of Distinct UBE3A/E6AP Protein Complexes
Gustavo Martinez-Noel et al.
MOLECULAR AND CELLULAR BIOLOGY (2012)
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons
Hsien-Sung Huang et al.
NATURE (2012)
Unsilencing dormant Ube3a—hope for Angelman syndrome?
Katy Malpass
Nature Reviews Neurology (2012)
Decreased Tonic Inhibition in Cerebellar Granule Cells Causes Motor Dysfunction in a Mouse Model of Angelman Syndrome
Kiyoshi Egawa et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Understanding the Pathogenesis of Angelman Syndrome through Animal Models
Nihar Ranjan Jana
NEURAL PLASTICITY (2012)
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome
Lynne M. Bird et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Recent Developments of Biological Reporter Technology for Detecting Gene Expression
Tingting Jiang et al.
Biotechnology & Genetic Engineering Reviews (2011)
Normal social seeking behavior, hypoactivity and reduced exploratory range in a mouse model of Angelman syndrome
Melody Allensworth et al.
BMC GENETICS (2011)
Molecular basis for the high THIP/gaboxadol sensitivity of extrasynaptic GABAA receptors
Pratap Meera et al.
JOURNAL OF NEUROPHYSIOLOGY (2011)
Adeno-Associated Virus-Mediated Rescue of the Cognitive Defects in a Mouse Model for Angelman Syndrome
Jennifer L. Daily et al.
PLOS ONE (2011)
Double-Blind Therapeutic Trial in Angelman Syndrome Using Betaine and Folic Acid
Sarika U. Peters et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
NNZ-2591, a novel diketopiperazine, prevented scopolamine-induced acute memory impairment in the adult rat
Jian Guan et al.
BEHAVIOURAL BRAIN RESEARCH (2010)
The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc
Paul L. Greer et al.
CELL (2010)
Clinical and genetic aspects of Angelman syndrome
Charles A. Williams et al.
GENETICS IN MEDICINE (2010)
Angelman Syndrome, a Genomic Imprinting Disorder of the Brain
Stormy J. Chamberlain et al.
JOURNAL OF NEUROSCIENCE (2010)
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto et al.
NATURE (2010)
Loss of dopaminergic neurons and resulting behavioural deficits in mouse model of Angelman syndrome
Shalaka A. Mulherkar et al.
NEUROBIOLOGY OF DISEASE (2010)
Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3
Yong-hui Jiang et al.
PLOS ONE (2010)
Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a
Masaaki Sato et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes
Stormy J. Chamberlain et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Anticonvulsant effects of the BK-channel antagonist paxilline
Jesse J. Sheehan et al.
EPILEPSIA (2009)
Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options
Ronald L. Thibert et al.
EPILEPSIA (2009)
NNZ-2566, a glypromate analog, attenuates brain ischemia-induced non-convulsive seizures in rats
Xi-Chun M. Lu et al.
JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM (2009)
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Joseph T. Glessner et al.
NATURE (2009)
Ube3a is required for experience-dependent maturation of the neocortex
Koji Yashiro et al.
NATURE NEUROSCIENCE (2009)
Function and modulation of δ-containing GABAA receptors
Nadezhda N. Zheleznova et al.
PSYCHONEUROENDOCRINOLOGY (2009)
Knockout Rats via Embryo Microinjection of Zinc-Finger Nucleases
Aron M. Geurts et al.
SCIENCE (2009)
Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model
T. V. Bilousova et al.
JOURNAL OF MEDICAL GENETICS (2009)
Lovastatin effect in rat neuroblasts of the CNS: inhibition of cap-dependent translation
Marta Olivera Santa-Catalina et al.
JOURNAL OF NEUROCHEMISTRY (2008)
A Drosophila model for Angelman syndrome
Yaning Wu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Epilepsy in Angelman syndrome
Karine Pelc et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2008)
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
Scott V. Dindot et al.
HUMAN MOLECULAR GENETICS (2008)
Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation
Geeske M. van Woerden et al.
NATURE NEUROSCIENCE (2007)
Lovastatin inhibits the extracellular-signal-regulated kinase pathway in immortalized rat brain neuroblasts
Maria Isabel Cerezo-Guisado et al.
BIOCHEMICAL JOURNAL (2007)
Molecular epigenetics of Angelman syndrome
M. Lalande et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2007)
Safety of topotecan in the treatment of recurrent small-cell lung cancer and ovarian cancer
Jennifer Garst
EXPERT OPINION ON DRUG SAFETY (2007)
Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase
Lawrence T. Reiter et al.
HUMAN MOLECULAR GENETICS (2006)
Angelman syndrome 2005: Updated consensus for diagnostic criteria
CA Williams et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1
WD Li et al.
CURRENT BIOLOGY (2005)
Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome
N Uemura et al.
BRAIN & DEVELOPMENT (2005)
Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein
EM Cooper et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Regulation of the large (∼1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn
M Landers et al.
NUCLEIC ACIDS RESEARCH (2004)
Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a
K Yarnasaki et al.
HUMAN MOLECULAR GENETICS (2003)
Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice
K Miura et al.
NEUROBIOLOGY OF DISEASE (2002)
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
M Runte et al.
HUMAN MOLECULAR GENETICS (2001)
The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a
SJ Chamberlain et al.
GENOMICS (2001)
Genomic imprinting: Parental influence on the genome
W Reik et al.
NATURE REVIEWS GENETICS (2001)
Share Paper
