Angelman Syndrome

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

If not Angelman, what is it? a review of Angelman-like syndromes

(2014) Wen-Hann Tan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Familial Recurrence of Autism Spectrum Disorder: Evaluating Genetic and Environmental Contributions

(2014) Neil Risch et al.   AMERICAN JOURNAL OF PSYCHIATRY

Evidence for ASD Recurrence Rates and Reproductive Stoppage From Large UK ASD Research Family Databases

(2014) Claire L. Wood et al.   Autism Research

An open-label pilot trial of minocycline in children as a treatment for Angelman syndrome

(2014) Joseph C Grieco et al.   BMC Neurology

The Familial Risk of Autism

(2014) Sven Sandin et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Towards a therapy for Angelman syndrome by targeting a long non-coding RNA

(2014) Linyan Meng et al.   NATURE

Cerebellar plasticity and motor learning deficits in a copy-number variation mouse model of autism

(2014) Claire Piochon et al.   Nature Communications

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

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

Angelman syndrome caused by deletion: A genotype–phenotype correlation determined by breakpoint

(2013) Kette D. Valente et al.   EPILEPSY RESEARCH

Imprinted expression of UBE3A in non-neuronal cells from a Prader–Willi syndrome patient with an atypical deletion

(2013) Kristen Martins-Taylor et al.   HUMAN MOLECULAR GENETICS

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

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

Topoisomerases facilitate transcription of long genes linked to autism

(2013) Ian F. King et al.   NATURE

Neurologic Manifestations of Angelman Syndrome

(2013) Ronald L. Thibert et al.   PEDIATRIC NEUROLOGY

R-loop formation atSnord116mediates topotecan inhibition ofUbe3a-antisenseand allele-specific chromatin decondensation

(2013) Weston T. Powell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Reduction of the α1 Subunit of Na/K-ATPase Corrects Multiple Hippocampal Phenotypes in Angelman Syndrome

(2013) Hanoch Kaphzan et al.   Cell Reports

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

(2013) Linyan Meng et al.   PLoS Genetics

Reversal of Impaired Hippocampal Long-Term Potentiation and Contextual Fear Memory Deficits in Angelman Syndrome Model Mice by ErbB Inhibitors

(2012) Hanoch Kaphzan et al.   BIOLOGICAL PSYCHIATRY

Defective glucocorticoid hormone receptor signaling leads to increased stress and anxiety in a mouse model of Angelman syndrome

(2012) Swetha K. Godavarthi et al.   HUMAN MOLECULAR GENETICS

Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome

(2012) Thorfinn T. Riday et al.   JOURNAL OF CLINICAL INVESTIGATION

Identification and Proteomic Analysis of Distinct UBE3A/E6AP Protein Complexes

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

Maternal Loss of Ube3a Produces an Excitatory/Inhibitory Imbalance through Neuron Type-Specific Synaptic Defects

(2012) Michael L. Wallace et al.   NEURON

RNAs of the human chromosome 15q11-q13 imprinted region

(2012) Stormy J. Chamberlain   Wiley Interdisciplinary Reviews-RNA

A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome

(2011) Lynne M. Bird et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class

(2011) Sarika U. Peters et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons

(2011) Hsien-Sung Huang et al.   NATURE

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

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

(2011) Angela M. Mabb et al.   TRENDS IN NEUROSCIENCES

Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid

(2010) Sarika U. Peters et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Angelman syndrome: Mutations influence features in early childhood

(2010) Wen-Hann Tan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

EphB-Mediated Degradation of the RhoA GEF Ephexin5 Relieves a Developmental Brake on Excitatory Synapse Formation

(2010) Seth S. Margolis et al.   CELL

The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc

(2010) Paul L. Greer et al.   CELL

Clinical and genetic aspects of Angelman syndrome

(2010) Charles A Williams et al.   GENETICS IN MEDICINE

Loss of dopaminergic neurons and resulting behavioural deficits in mouse model of Angelman syndrome

(2010) Shalaka A. Mulherkar 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

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

(2009) Jin Nakatani et al.   CELL

Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options

(2009) Ronald L. Thibert et al.   EPILEPSIA

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

(2009) Joseph T. Glessner et al.   NATURE

Ube3a is required for experience-dependent maturation of the neocortex

(2009) Koji Yashiro et al.   NATURE NEUROSCIENCE

Ubiquitin ligase E6-AP and its role in human disease

(2008) Konstantin Matentzoglu et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors

(2008) Detlef H. Heck et al.   HUMAN MOLECULAR GENETICS

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

(2008) E. M. Morrow et al.   SCIENCE