ArticleNeuroscience letters2010
Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex.
Article in Neuroscience letters, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review.Journal of neurodevelopmental disorders · 2025Pooled it
- Emerging Therapies for Angelman Syndrome.CNS drugs · 2026Review
- Region-dependent differences in tonic inhibition underlie epileptic features in Angelman syndrome model mice.Epilepsia · 2026Article
- Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome.Molecular autism · 2021Article
- Human stem cell-based models for studying autism spectrum disorder-related neuronal dysfunction.Molecular autism · 2020Review
- Epilepsy and brain channelopathies from infancy to adulthood.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes.Biological psychiatry · 2019Article
- Drug repositioning in epilepsy reveals novel antiseizure candidates.Annals of clinical and translational neurology · 2019Article
- Out of thin air: Hyperventilation-triggered seizures.Brain research · 2019Review
- Human brain transcriptome analysis finds region- and subject-specific expression signatures of GABACommunications biology · 2019Article
- Taurine Administration Recovers Motor and Learning Deficits in an Angelman Syndrome Mouse Model.International journal of molecular sciences · 2018Article
- Pharmacological therapies for Angelman syndrome.Wiener medizinische Wochenschrift (1946) · 2017Review
- Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome.The Journal of physiology · 2016Article
- Pharmacological treatment with mirtazapine rescues cortical atrophy and respiratory deficits in MeCP2 null mice.Scientific reports · 2016Article
- Impairment of cortical GABAergic synaptic transmission in an environmental rat model of autism.The international journal of neuropsychopharmacology · 2013Article
- Pathophysiological power of improper tonic GABA(A) conductances in mature and immature models.Frontiers in neural circuits · 2013Review
- Loss of functional GABA(A) receptors in the Alzheimer diseased brain.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Autism: a "critical period" disorder?Neural plasticity · 2011Review
- Reprogramming cells and tissue patterning via bioelectrical pathways: molecular mechanisms and biomedical opportunities.Wiley interdisciplinary reviews. Systems biology and medicineReview
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The neurodevelopmental disorder Angelman syndrome is most frequently caused by deletion of the maternally derived chromosome 15q11-q13 region, which includes not only the causative UBE3A gene, but also the beta(3)-alpha(5)-gamma(3) GABA(A) receptor subunit gene cluster. GABAergic dysfunction has been hypothesized to contribute to the occurrence of epilepsy and cognitive and behavioral impairments in this condition. In the present study, analysis of GABA(A) receptor subunit expression and pharmacology was performed in cerebral cortex from four subjects with Angelman syndrome and compared to that from control tissue. The membrane fraction of frozen postmortem neocortical tissue was isolated and subjected to quantitative Western blot analysis. The ratios of beta(3)/beta(2) and alpha(5)/alpha(1) subunit protein expression in Angelman syndrome cortex were significantly decreased when compared with controls. An additional membrane fraction was injected into Xenopus oocytes, resulting in incorporation of the brain membrane vesicles with their associated receptors into the oocyte cellular membrane. Two-electrode voltage-clamp analysis of GABA(A) receptor currents was then performed. Studies of GABA(A) receptor pharmacology in Angelman syndrome cortex revealed increased current enhancement by the alpha(1)-selective benzodiazepine-site agonist zolpidem and by the barbiturate phenobarbital, while sensitivity to current inhibition by zinc was decreased. GABA(A) receptor affinity and modulation by neurosteroids were unchanged. This shift in GABA(A) receptor subunit expression and pharmacology in Angelman syndrome is consistent with impaired extrasynaptic but intact to augmented synaptic cortical GABAergic inhibition, which could contribute to the epileptic, behavioral, and cognitive phenotypes of the disorder.
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Registered trials
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