Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome

The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/β-catenin pathway by inhibiting the proteasome

(2017) Jason J. Yi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autism gene Ube3a and seizures impair sociability by repressing VTA Cbln1

(2017) Vaishnav Krishnan et al.   NATURE

Germline Chd8 haploinsufficiency alters brain development in mouse

(2017) Andrea L Gompers et al.   NATURE NEUROSCIENCE

Effects of the synthetic neurosteroid ganaxolone on seizure activity and behavioral deficits in an Angelman syndrome mouse model

(2017) Stephanie L. Ciarlone et al.   NEUROPHARMACOLOGY

The Drosophila melanogaster homolog of UBE3A is not imprinted in neurons

(2016) Kevin A. Hope et al.   Epigenetics

Subcellular organization of UBE3A in neurons

(2016) Alain C. Burette et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Ketone ester supplementation attenuates seizure activity, and improves behavior and hippocampal synaptic plasticity in an Angelman syndrome mouse model

(2016) Stephanie L. Ciarlone et al.   NEUROBIOLOGY OF DISEASE

Genetic Background Limits Generalizability of Genotype-Phenotype Relationships

(2016) Laura J. Sittig et al.   NEURON

GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility

(2016) Matthew C. Judson et al.   NEURON

Regional brain volumes changes in adult male FMR1-KO mouse on the FVB strain

(2016) J.K.Y. Lai et al.   NEUROSCIENCE

Cumulative Impact of Polychlorinated Biphenyl and Large Chromosomal Duplications on DNA Methylation, Chromatin, and Expression of Autism Candidate Genes

(2016) Keith W. Dunaway et al.   Cell Reports

Neuroanatomical Phenotypes Are Consistent With Autism-Like Behavioral Phenotypes in the 15q11-13 Duplication Mouse Model

(2015) Jacob Ellegood et al.   Autism Research

The E3 ligase ube3a is required for learning in Drosophila melanogaster

(2015) Moumita Chakraborty et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A

(2015) Jason J. Yi et al.   CELL

15q11.2 Duplication Encompassing Only theUBE3AGene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes

(2015) Abdul Noor et al.   HUMAN MUTATION

A coding-independent function of an alternative Ube3a transcript during neuronal development

(2015) Jeremy Valluy et al.   NATURE NEUROSCIENCE

Neurobiology of rodent self-grooming and its value for translational neuroscience

(2015) Allan V. Kalueff et al.   NATURE REVIEWS NEUROSCIENCE

GABAB Receptor Agonist R-Baclofen Reverses Social Deficits and Reduces Repetitive Behavior in Two Mouse Models of Autism

(2015) J L Silverman et al.   NEUROPSYCHOPHARMACOLOGY

Behavioral assessment of NIH Swiss mice acutely intoxicated with tetramethylenedisulfotetramine

(2015) Brenna M. Flannery et al.   NEUROTOXICOLOGY AND TERATOLOGY

Seizure-like activity in a juvenile Angelman syndrome mouse model is attenuated by reducingArcexpression

(2015) Caleigh Mandel-Brehm et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders

(2015) Janine M LaSalle et al.   Epigenomics

Variation in Dube3a expression affects neurotransmission at the Drosophila neuromuscular junction

(2015) C. Valdez et al.   Biology Open

A survey of seizures and current treatments in 15q duplication syndrome

(2014) Kerry D. Conant et al.   EPILEPSIA

Hippocampal Abnormalities in Magnetic Resonance Imaging (MRI) of 15q Duplication Syndromes

(2014) Susana Boronat et al.   JOURNAL OF CHILD NEUROLOGY

Behavioral Abnormalities and Circuit Defects in the Basal Ganglia of a Mouse Model of 16p11.2 Deletion Syndrome

(2014) Thomas Portmann et al.   Cell Reports

Genetic Effects on Cerebellar Structure Across Mouse Models of Autism Using a Magnetic Resonance Imaging Atlas

(2013) Patrick E. Steadman et al.   Autism Research

The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature

(2013) Nora Urraca et al.   Autism Research

Behavioral deficits in an Angelman syndrome model: Effects of genetic background and age

(2013) Hsien-Sung Huang et al.   BEHAVIOURAL BRAIN RESEARCH

The promising trajectory of autism therapeutics discovery

(2013) Jill L. Silverman et al.   DRUG DISCOVERY TODAY

Allelic specificity of Ube3a Expression In The Mouse Brain During Postnatal Development

(2013) Matthew C. Judson et al.   JOURNAL OF COMPARATIVE NEUROLOGY

The Angelman Syndrome Protein Ube3a Is Required for Polarized Dendrite Morphogenesis in Pyramidal Neurons

(2013) S. Miao et al.   JOURNAL OF NEUROSCIENCE

A segmentation protocol and MRI atlas of the C57BL/6J mouse neocortex

(2013) Jeremy F.P. Ullmann et al.   NEUROIMAGE

Proteomic Profiling in Drosophila Reveals Potential Dube3a Regulation of the Actin Cytoskeleton and Neuronal Homeostasis

(2013) Laura Jensen et al.   PLoS One

Role of the ubiquitin ligase E6AP/UBE3A in controlling levels of the synaptic protein Arc

(2013) S. Kuhnle et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model

(2013) Linyan Meng et al.   PLoS Genetics

Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2

(2012) Markus Wöhr et al.   BEHAVIOURAL BRAIN RESEARCH

Female Mecp2+/− mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies

(2012) Rodney C. Samaco et al.   HUMAN MOLECULAR GENETICS

Strain Background Influences Neurotoxicity and Behavioral Abnormalities in Mice Expressing the Tetracycline Transactivator

(2012) H. J. Han et al.   JOURNAL OF NEUROSCIENCE

Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice

(2012) M. Yang et al.   JOURNAL OF NEUROSCIENCE

Identification and Proteomic Analysis of Distinct UBE3A/E6AP Protein Complexes

(2012) G. Martinez-Noel et al.   MOLECULAR AND CELLULAR BIOLOGY

ERα Phosphorylation at Y537 by Src Triggers E6-AP-ERα Binding, ERα Ubiquitylation, Promoter Occupancy, and Target Gene Expression

(2012) Jun Sun et al.   MOLECULAR ENDOCRINOLOGY

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

(2012) D Moreno-De-Luca et al.   MOLECULAR PSYCHIATRY

Preparation of fixed mouse brains for MRI

(2012) Lindsay S. Cahill et al.   NEUROIMAGE

Neuroanatomical analysis of the BTBR mouse model of autism using magnetic resonance imaging and diffusion tensor imaging

(2012) Jacob Ellegood et al.   NEUROIMAGE

Negative Allosteric Modulation of the mGluR5 Receptor Reduces Repetitive Behaviors and Rescues Social Deficits in Mouse Models of Autism

(2012) J. L. Silverman et al.   Science Translational Medicine

Understanding the Pathogenesis of Angelman Syndrome through Animal Models

(2012) Nihar Ranjan Jana   NEURAL PLASTICITY

Modifying behavioral phenotypes in Fmr1KO mice: genetic background differences reveal autistic-like responses

(2011) Corinne M. Spencer et al.   Autism Research

Physical and Functional Interaction of the HECT Ubiquitin-protein Ligases E6AP and HERC2

(2011) Simone Kühnle et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Increased Gene Dosage of Ube3a Results in Autism Traits and Decreased Glutamate Synaptic Transmission in Mice

(2011) S. E. P. Smith et al.   Science Translational Medicine

Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples

(2011) Haley A Scoles et al.   Molecular Autism

Unusual repertoire of vocalizations in adult BTBR T+tf/J mice during three types of social encounters

(2010) M. L. Scattoni et al.   GENES BRAIN AND BEHAVIOR

Synergy of combined Doxycycline/TUDCA treatment in lowering Transthyretin deposition and associated biomarkers: studies in FAP mouse models

(2010) Isabel Cardoso et al.   Journal of Translational Medicine

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Behavioural phenotyping assays for mouse models of autism

(2010) Jill L. Silverman et al.   NATURE REVIEWS NEUROSCIENCE

Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11–q13

(2010) Stormy J. Chamberlain et al.   NEUROBIOLOGY OF DISEASE

Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome

(2010) Richard M. Gustin et al.   NEUROBIOLOGY OF DISEASE

Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism

(2010) Faiza Ferdousy et al.   NEUROBIOLOGY OF DISEASE

A reproducible evaluation of ANTs similarity metric performance in brain image registration

(2010) Brian B. Avants et al.   NEUROIMAGE

Low stress reactivity and neuroendocrine factors in the BTBR T+tf/J mouse model of autism

(2010) J.L. Silverman et al.   NEUROSCIENCE

Abnormal Behavior in a Chromosome- Engineered Mouse Model for Human 15q11-13 Duplication Seen in Autism

(2009) Jin Nakatani et al.   CELL

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Repetitive Self-Grooming Behavior in the BTBR Mouse Model of Autism is Blocked by the mGluR5 Antagonist MPEP

(2009) Jill L Silverman et al.   NEUROPSYCHOPHARMACOLOGY

Social approach in genetically engineered mouse lines relevant to autism

(2008) S. S. Moy et al.   GENES BRAIN AND BEHAVIOR

Ubiquitin, the proteasome and protein degradation in neuronal function and dysfunction

(2008) Hwan-Ching Tai et al.   NATURE REVIEWS NEUROSCIENCE

High resolution three-dimensional brain atlas using an average magnetic resonance image of 40 adult C57Bl/6J mice

(2008) A.E. Dorr et al.   NEUROIMAGE

Behavioral Phenotyping Strategies for Mutant Mice

(2008) Jacqueline N. Crawley   NEURON

Ultrasonic vocalizations: A tool for behavioural phenotyping of mouse models of neurodevelopmental disorders

(2008) Maria Luisa Scattoni et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Unusual Repertoire of Vocalizations in the BTBR T+tf/J Mouse Model of Autism

(2008) Maria Luisa Scattoni et al.   PLoS One

Reduced ultrasonic vocalizations in vasopressin 1b knockout mice

(2007) M SCATTONI et al.   BEHAVIOURAL BRAIN RESEARCH

Symmetric diffeomorphic image registration with cross-correlation: Evaluating automated labeling of elderly and neurodegenerative brain

(2007) B AVANTS et al.   MEDICAL IMAGE ANALYSIS