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A structural look at GABAA receptor mutations linked to epilepsy syndromes

Brain research, 2019-07, Vol.1714, p.234-247

2019

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Three epilepsy-associated GABRG2 missense mutations at the γ +/β − interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents

Neurobiology of disease, 2014-08, Vol.68, p.167-179

2014

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Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population

PloS one, 2016-09, Vol.11 (9), p.e0162883-e0162883

2016

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Editorial: Targeting ion channels for drug discovery: emerging challenges for high throughput screening technologies

Frontiers in molecular neuroscience, 2024-05, Vol.17, p.1414816-1414816

2024

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Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects

Biomolecules (Basel, Switzerland), 2023-12, Vol.13 (12), p.1790

2023

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Regulation of neural KCNQ channels: signalling pathways, structural motifs and functional implications

The Journal of physiology, 2008-04, Vol.586 (7), p.1811-1821

2008

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A structural look at GABA A receptor mutations linked to epilepsy syndromes

Brain research, 2019-07, Vol.1714, p.234

2019

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The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through

Neurobiology of disease, 2012-10, Vol.48 (1), p.115-123

2012

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GABRG2 Variants Associated with Febrile Seizures

Biomolecules (Basel, Switzerland), 2023-02, Vol.13 (3), p.414

2023

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Affinity for phosphatidylinositol 4,5-bisphosphate determines muscarinic agonist sensitivity of Kv7 K+ channels

The Journal of general physiology, 2009-11, Vol.134 (5), p.437-448

2009

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Homomeric and Heteromeric Assembly of KCNQ (Kv7) K+ Channels Assayed by Total Internal Reflection Fluorescence/Fluorescence Resonance Energy Transfer and Patch Clamp Analysis

The Journal of biological chemistry, 2008-11, Vol.283 (45), p.30668-30676

2008

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Targeting the central melanocortin system for the treatment of metabolic disorders

Nature reviews. Endocrinology, 2023-09, Vol.19 (9), p.507-519

2023

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Correction: Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population

PloS one, 2016, Vol.11 (11), p.e0167264-e0167264

2016

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Impaired surface αβγ GABAA receptor expression in familial epilepsy due to a GABRG2 frameshift mutation

Neurobiology of disease, 2013-02, Vol.50, p.135-141

2013

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Oxidative modification of M-type K+ channels as a mechanism of cytoprotective neuronal silencing

The EMBO journal, 2006-10, Vol.25 (20), p.4996-5004

2006

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Pore Determinants of KCNQ3 K+ Current Expression

Biophysical journal, 2012-06, Vol.102 (11), p.2489-2498

2012

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Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function

Annals of neurology, 2016-05, Vol.79 (5), p.806-825

2016

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Determination of the melanocortin-4 receptor structure identifies Ca2+ as a cofactor for ligand binding

Science (American Association for the Advancement of Science), 2020-04, Vol.368 (6489), p.428-433

2020

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The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control

American Journal of Physiology: Cell Physiology, 2023-03, Vol.324 (3), p.C694-C706

2023

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Glycosylation of β2 Subunits Regulates GABAA Receptor Biogenesis and Channel Gating

The Journal of biological chemistry, 2010-10, Vol.285 (41), p.31348-31361

2010

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Phosphatidylinositol 4,5-bisphosphate (PIP2) regulates KCNQ3 K+ channels by interacting with four cytoplasmic channel domains

The Journal of biological chemistry, 2018-12, Vol.293 (50), p.19411-19428

2018

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De novo GABRG2 mutations associated with epileptic encephalopathies

Brain (London, England : 1878), 2017-01, Vol.140 (1), p.49-67

2017

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Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies

Brain (London, England : 1878), 2019-07, Vol.142 (7), p.1938-1954

2019

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A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

Journal of medical genetics, 2017-03, Vol.54 (3), p.202-211

2017

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The GPCR accessory protein MRAP2 regulates both biased signaling and constitutive activity of the ghrelin receptor GHSR1a

Science signaling, 2020-01, Vol.13 (613)

2020

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A structural look at GABAA receptor mutations linked to epilepsy syndromes

Three epilepsy-associated GABRG2 missense mutations at the γ +/β − interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents

Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population

Editorial: Targeting ion channels for drug discovery: emerging challenges for high throughput screening technologies

Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects

Regulation of neural KCNQ channels: signalling pathways, structural motifs and functional implications

A structural look at GABA A receptor mutations linked to epilepsy syndromes

The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through

GABRG2 Variants Associated with Febrile Seizures

Affinity for phosphatidylinositol 4,5-bisphosphate determines muscarinic agonist sensitivity of Kv7 K+ channels

Homomeric and Heteromeric Assembly of KCNQ (Kv7) K+ Channels Assayed by Total Internal Reflection Fluorescence/Fluorescence Resonance Energy Transfer and Patch Clamp Analysis

Targeting the central melanocortin system for the treatment of metabolic disorders

Correction: Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population

Impaired surface αβγ GABAA receptor expression in familial epilepsy due to a GABRG2 frameshift mutation

Oxidative modification of M-type K+ channels as a mechanism of cytoprotective neuronal silencing

Pore Determinants of KCNQ3 K+ Current Expression

Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function

Determination of the melanocortin-4 receptor structure identifies Ca2+ as a cofactor for ligand binding

The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control

Glycosylation of β2 Subunits Regulates GABAA Receptor Biogenesis and Channel Gating

Phosphatidylinositol 4,5-bisphosphate (PIP2) regulates KCNQ3 K+ channels by interacting with four cytoplasmic channel domains

De novo GABRG2 mutations associated with epileptic encephalopathies

Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

The GPCR accessory protein MRAP2 regulates both biased signaling and constitutive activity of the ghrelin receptor GHSR1a

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