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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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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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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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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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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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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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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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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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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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The viscosity of dilute carbon nanotube (1D) and graphene oxide (2D) nanofluids

Physical chemistry chemical physics : PCCP, 2020-05, Vol.22 (2), p.11474-11484

2020

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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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Membrane orientation and oligomerization of the melanocortin receptor accessory protein 2

The Journal of biological chemistry, 2020-11, Vol.295 (48), p.16370-16379

2020

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Novel Cocrystal Structures of Peptide Antagonists Bound to the Human Melanocortin Receptor 4 Unveil Unexplored Grounds for Structure-Based Drug Design

Journal of medicinal chemistry, 2024-02, Vol.67 (4), p.2690-2711

2024

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N -(4-Bromo-2,5-Dimethoxyphenethyl)-6-(4-Phenylbutoxy)Hexan-1-Amine (XOB): A Novel Phenylalkylamine Antagonist of Serotonin 2A Receptors and Voltage-Gated Sodium Channels

Molecular pharmacology, 2024-08, Vol.106 (2), p.92-106

2024

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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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GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

Scientific reports, 2017-11, Vol.7 (1), p.15903-18, Article 15903

2017

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Development of an automated screen for Kv7.2 potassium channels and discovery of a new agonist chemotype

Bioorganic & medicinal chemistry letters, 2022-09, Vol.71, p.128841-128841, Article 128841

2022

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GABRB3 Mutation, G32R, Associated with Childhood Absence Epilepsy Alters α1β3γ2L γ-Aminobutyric Acid Type A (GABAA) Receptor Expression and Channel Gating

The Journal of biological chemistry, 2012-04, Vol.287 (15), p.12083-12097

2012

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

Targeting the central melanocortin system for the treatment of metabolic disorders

A structural look at GABAA receptor mutations linked to epilepsy syndromes

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

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

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

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

De novo GABRG2 mutations associated with epileptic encephalopathies

Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects

The viscosity of dilute carbon nanotube (1D) and graphene oxide (2D) nanofluids

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

Membrane orientation and oligomerization of the melanocortin receptor accessory protein 2

Novel Cocrystal Structures of Peptide Antagonists Bound to the Human Melanocortin Receptor 4 Unveil Unexplored Grounds for Structure-Based Drug Design

N -(4-Bromo-2,5-Dimethoxyphenethyl)-6-(4-Phenylbutoxy)Hexan-1-Amine (XOB): A Novel Phenylalkylamine Antagonist of Serotonin 2A Receptors and Voltage-Gated Sodium Channels

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

GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

Development of an automated screen for Kv7.2 potassium channels and discovery of a new agonist chemotype

GABRB3 Mutation, G32R, Associated with Childhood Absence Epilepsy Alters α1β3γ2L γ-Aminobutyric Acid Type A (GABAA) Receptor Expression and Channel Gating

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

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