E6AP in the Brain: One Protein, Dual Function, Multiple Diseases

The Angelman Syndrome Protein Ube3a/E6AP Is Required for Golgi Acidification and Surface Protein Sialylation

(2013) K. H. Condon et al.   JOURNAL OF NEUROSCIENCE

Impairment of TrkB-PSD-95 Signaling in Angelman Syndrome

(2013) Cong Cao et al.   PLOS BIOLOGY

Spatial and temporal silencing of the human maternal UBE3A gene

(2012) Jennifer Daily et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a

(2012) Linyan Meng et al.   HUMAN MOLECULAR GENETICS

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

Dysfunction of the Ubiquitin Ligase Ube3a May Be Associated with Synaptic Pathophysiology in a Mouse Model of Huntington Disease

(2012) Megha Maheshwari 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

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

Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation

(2010) Daren Low et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Developmental sensory experience balances cortical excitation and inhibition

(2010) Anja L. Dorrn et al.   NATURE

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

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

Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3

(2010) Yong-hui Jiang et al.   PLoS One

Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a

(2010) M. Sato et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autism spectrum disorder: diagnosis and management

(2009) A. O'Hare   Archives of Disease in Childhood-Education and Practice Edition

Update on autism: A review of 1300 reports published in 2008

(2009) John R. Hughes   EPILEPSY & BEHAVIOR

Impaired hippocampal plasticity and altered neurogenesis in adult Ube3a maternal deficient mouse model for Angelman syndrome

(2009) Sandrine Mardirossian et al.   EXPERIMENTAL NEUROLOGY

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

(2009) David A. Parfitt et al.   HUMAN MOLECULAR GENETICS

The Ubiquitin Ligase E6-AP Is Induced and Recruited to Aggresomes in Response to Proteasome Inhibition and May Be Involved in the Ubiquitination of Hsp70-bound Misfolded Proteins

(2009) Amit Mishra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The ubiquitin ligase E6-AP promotes degradation of α-synuclein

(2009) Shalaka A. Mulherkar et al.   JOURNAL OF NEUROCHEMISTRY

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

UBE3A/E6-AP regulates cell proliferation by promoting proteasomal degradation of p27

(2009) Amit Mishra et al.   NEUROBIOLOGY OF DISEASE

Neuroimaging of autism

(2009) Judith S. Verhoeven et al.   NEURORADIOLOGY

The stability of the human papillomavirus E6 oncoprotein is E6AP dependent

(2009) Vjekoslav Tomaić et al.   VIROLOGY

Regulation of turnover of tumor suppressor p53 and cell growth by E6-AP, a ubiquitin protein ligase mutated in Angelman mental retardation syndrome

(2008) A. Mishra et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Rett Syndrome: From the Gene to the Disease

(2008) Tanja Matijevic et al.   EUROPEAN NEUROLOGY

The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches

(2008) Y. Lu et al.   HUMAN MOLECULAR GENETICS

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

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

E6-AP Promotes Misfolded Polyglutamine Proteins for Proteasomal Degradation and Suppresses Polyglutamine Protein Aggregation and Toxicity

(2008) Amit Mishra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Drosophila model for Angelman syndrome

(2008) Y. Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Proteasome inhibitors: Poisons and remedies

(2007) Silke Meiners et al.   MEDICINAL RESEARCH REVIEWS

Are there distinctive sleep problems in Angelman syndrome?

(2007) Karine Pelc et al.   SLEEP MEDICINE