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

PubWeight™: 2.14‹?› | Rank: Top 2%

🔗 View Article (PMID 27021170)

Published in Neuron on March 24, 2016

Authors

Matthew C Judson1, Michael L Wallace2, Michael S Sidorov1, Alain C Burette3, Bin Gu1, Geeske M van Woerden4, Ian F King5, Ji Eun Han3, Mark J Zylka6, Ype Elgersma4, Richard J Weinberg7, Benjamin D Philpot8

Author Affiliations

1: Department of Cell Biology and Physiology, University of North Carolina, Chapel Hill, NC 27599, USA; Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC 27599, USA.
2: Curriculum in Neurobiology, University of North Carolina, Chapel Hill, NC 27599, USA; Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC 27599, USA.
3: Department of Cell Biology and Physiology, University of North Carolina, Chapel Hill, NC 27599, USA.
4: Department of Neuroscience, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, the Netherlands; ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, the Netherlands.
5: Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, Chapel Hill, NC 27599, USA.
6: Department of Cell Biology and Physiology, University of North Carolina, Chapel Hill, NC 27599, USA; Curriculum in Neurobiology, University of North Carolina, Chapel Hill, NC 27599, USA; Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC 27599, USA; Neuroscience Center, University of North Carolina, Chapel Hill, Chapel Hill, NC 27599, USA.
7: Department of Cell Biology and Physiology, University of North Carolina, Chapel Hill, NC 27599, USA; Curriculum in Neurobiology, University of North Carolina, Chapel Hill, NC 27599, USA.
8: Department of Cell Biology and Physiology, University of North Carolina, Chapel Hill, NC 27599, USA; Curriculum in Neurobiology, University of North Carolina, Chapel Hill, NC 27599, USA; Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC 27599, USA; Neuroscience Center, University of North Carolina, Chapel Hill, Chapel Hill, NC 27599, USA. Electronic address: bphilpot@med.unc.edu.

Articles cited by this

Reversal of neurological defects in a mouse model of Rett syndrome. Science (2007) 7.09

A resource of Cre driver lines for genetic targeting of GABAergic neurons in cerebral cortex. Neuron (2011) 6.93

The origin of extracellular fields and currents--EEG, ECoG, LFP and spikes. Nat Rev Neurosci (2012) 6.74

UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet (1997) 5.97

Physiological functions of the HECT family of ubiquitin ligases. Nat Rev Mol Cell Biol (2009) 5.43

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature (2010) 5.11

Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron (1998) 4.92

The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell (2010) 4.72

Essential role of phosphoinositide metabolism in synaptic vesicle recycling. Cell (1999) 4.70

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet (1997) 4.65

Ovarian cycle-linked changes in GABA(A) receptors mediating tonic inhibition alter seizure susceptibility and anxiety. Nat Neurosci (2005) 4.17

Cortical interneurons that specialize in disinhibitory control. Nature (2013) 3.56

Expression of Cux-1 and Cux-2 in the subventricular zone and upper layers II-IV of the cerebral cortex. J Comp Neurol (2004) 3.20

Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Nature (2011) 3.19

Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A (2006) 2.86

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet (1997) 2.77

CaMKII: a biochemical bridge linking accumbens dopamine and glutamate systems in cocaine seeking. Nat Neurosci (2008) 2.76

Perisynaptic localization of delta subunit-containing GABA(A) receptors and their activation by GABA spillover in the mouse dentate gyrus. J Neurosci (2003) 2.58

Genetic targeting of principal neurons in neocortex and hippocampus of NEX-Cre mice. Genesis (2006) 2.52

Thalamic synchrony and dynamic regulation of global forebrain oscillations. Trends Neurosci (2007) 2.47

Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission. Neuron (2011) 2.45

Extrasynaptic GABA(A) receptors: their function in the CNS and implications for disease. Neuron (2012) 2.40

Sleep, epilepsy and thalamic reticular inhibitory neurons. Trends Neurosci (2005) 2.36

Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation. Nat Neurosci (2007) 2.23

Excessive activation of mTOR in postnatally generated granule cells is sufficient to cause epilepsy. Neuron (2012) 2.17

An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat Genet (1998) 2.16

Ubiquitination in postsynaptic function and plasticity. Annu Rev Cell Dev Biol (2010) 1.94

Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome. J Neurosci (2003) 1.93

Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Hum Mol Genet (2003) 1.92

Cell- and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons. Proc Natl Acad Sci U S A (2008) 1.91

Spatial exploration induces ARC, a plasticity-related immediate-early gene, only in calcium/calmodulin-dependent protein kinase II-positive principal excitatory and inhibitory neurons of the rat forebrain. J Comp Neurol (2006) 1.90

Towards a therapy for Angelman syndrome by targeting a long non-coding RNA. Nature (2014) 1.87

Acetylcholine induces burst firing in thalamic reticular neurones by activating a potassium conductance. Nature (1986) 1.74

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes. Trends Neurosci (2011) 1.72

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet (2004) 1.65

Selective increase in T-type calcium conductance of reticular thalamic neurons in a rat model of absence epilepsy. J Neurosci (1995) 1.64

The dentate gyrus as a filter or gate: a look back and a look ahead. Prog Brain Res (2007) 1.55

Synaptophysin regulates clathrin-independent endocytosis of synaptic vesicles. Proc Natl Acad Sci U S A (2000) 1.50

Functional regulation of the dentate gyrus by GABA-mediated inhibition. Prog Brain Res (2007) 1.37

The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. Genome Res (1997) 1.34

Inhibition of NMDARs in the Nucleus Reticularis of the Thalamus Produces Delta Frequency Bursting. Front Neural Circuits (2009) 1.28

If not Angelman, what is it? A review of Angelman-like syndromes. Am J Med Genet A (2014) 1.26

Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein. J Biol Chem (2004) 1.20

Contrasting patterns in the localization of glutamic acid decarboxylase and Ca2+/calmodulin protein kinase gene expression in the rat central nervous system. Neuroscience (1992) 1.20

Behavior and physiology of mice lacking the GABAA-receptor delta subunit. Epilepsia (2002) 1.20

Synaptojanin 1 contributes to maintaining the stability of GABAergic transmission in primary cultures of cortical neurons. J Neurosci (2001) 1.19

The overlapping spectrum of rett and angelman syndromes: a clinical review. Semin Pediatr Neurol (2007) 1.18

Maternal loss of Ube3a produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects. Neuron (2012) 1.12

Evolution of epilepsy and EEG findings in Angelman syndrome. Epilepsia (1997) 1.10

Allelic specificity of Ube3a expression in the mouse brain during postnatal development. J Comp Neurol (2014) 1.07

Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome. Sci Transl Med (2012) 1.04

Neurologic manifestations of Angelman syndrome. Pediatr Neurol (2013) 1.01

Role of the ubiquitin ligase E6AP/UBE3A in controlling levels of the synaptic protein Arc. Proc Natl Acad Sci U S A (2013) 0.99

Impact of inhibitory constraint of interneurons on neuronal excitability. J Neurophysiol (2013) 0.98

Biphasic cholinergic synaptic transmission controls action potential activity in thalamic reticular nucleus neurons. J Neurosci (2013) 0.98

CaMKII regulates amphetamine-induced ERK1/2 phosphorylation in striatal neurons. Neuroreport (2002) 0.98

Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome. Epileptic Disord (2005) 0.97

The activity-regulated cytoskeletal-associated protein arc is expressed in different striosome-matrix patterns following exposure to amphetamine and cocaine. J Neurochem (2000) 0.95

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model. J Clin Invest (2015) 0.94

Functional contribution of specific brain areas to absence seizures: role of thalamic gap-junctional coupling. Eur J Neurosci (2006) 0.93

Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion. Hum Mol Genet (2013) 0.90

The impact of tonic GABAA receptor-mediated inhibition on neuronal excitability varies across brain region and cell type. Front Neural Circuits (2014) 0.90

Two functionally distinct networks of gap junction-coupled inhibitory neurons in the thalamic reticular nucleus. J Neurosci (2014) 0.90

Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes. Neuron (2015) 0.89

Differential modulatory actions of the volatile convulsant flurothyl and its anesthetic isomer at inhibitory ligand-gated ion channels. Neuropharmacology (2000) 0.88

Thalamic reticular nucleus induces fast and local modulation of arousal state. Elife (2015) 0.84

Seizure-like activity in a juvenile Angelman syndrome mouse model is attenuated by reducing Arc expression. Proc Natl Acad Sci U S A (2015) 0.84

Analysis of EEG patterns and genotypes in patients with Angelman syndrome. Epilepsy Behav (2012) 0.83

Unbalanced Peptidergic Inhibition in Superficial Neocortex Underlies Spike and Wave Seizure Activity. J Neurosci (2015) 0.81

Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model. J Clin Invest (2015) 0.79

Segregation of seizure traits in C57 black mouse substrains using the repeated-flurothyl model. PLoS One (2014) 0.77