Functional genomics of epilepsy-associated mutations in the GABA

Amino Acid Substitution Animals Cell Membrane / genetics Epilepsy / genetics Humans Mutation, Missense Protein Subunits / genetics Receptors, GABA-A / genetics Xenopus laevis gamma-Aminobutyric Acid / metabolism
GABA receptor brain disorder channel activation concatemer cryo-electron microscopy epilepsy heterozygous missense neurotransmission neurotransmitter synaptic transmission

Journal

The Journal of biological chemistry
ISSN: 1083-351X
Titre abrégé: J Biol Chem
Pays: United States
ID NLM: 2985121R

Informations de publication

Date de publication:
12 04 2019
Historique:
received: 03 09 2018
revised: 30 01 2019
pubmed: 8 2 2019
medline: 15 10 2019
entrez: 8 2 2019
Statut: ppublish

Résumé

A number of epilepsy-causing mutations have recently been identified in the genes of the α1, β3, and γ2 subunits comprising the γ-aminobutyric acid type A (GABA

Identifiants

DOI: 10.1074/jbc.RA118.005697 PMID: 30728247 PMC: PMC6463728
pubmed: 30728247
pii: S0021-9258(20)36684-9
doi: 10.1074/jbc.RA118.005697
pmc: PMC6463728
pii:
doi:

Substances chimiques

Protein Subunits 0
Receptors, GABA-A 0
gamma-Aminobutyric Acid 56-12-2

Banques de données

PDB
['6HUP', '6i53', '6DW0']

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

6157-6171

Informations de copyright

© 2019 Absalom et al.

Références

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Auteurs

Nathan L Absalom (NL)

From the Brain and Mind Centre, University of Sydney, 94 Mallett Street, Camperdown, New South Wales 2050, Australia; School of Pharmacy, University of Sydney, Camperdown, New South Wales 2006, Australia.

Philip K Ahring (PK)

From the Brain and Mind Centre, University of Sydney, 94 Mallett Street, Camperdown, New South Wales 2050, Australia; School of Pharmacy, University of Sydney, Camperdown, New South Wales 2006, Australia.

Vivian W Liao (VW)

From the Brain and Mind Centre, University of Sydney, 94 Mallett Street, Camperdown, New South Wales 2050, Australia; School of Pharmacy, University of Sydney, Camperdown, New South Wales 2006, Australia.

Thomas Balle (T)

From the Brain and Mind Centre, University of Sydney, 94 Mallett Street, Camperdown, New South Wales 2050, Australia; School of Pharmacy, University of Sydney, Camperdown, New South Wales 2006, Australia.

Tian Jiang (T)

From the Brain and Mind Centre, University of Sydney, 94 Mallett Street, Camperdown, New South Wales 2050, Australia; School of Pharmacy, University of Sydney, Camperdown, New South Wales 2006, Australia.

Lyndsey L Anderson (LL)

From the Brain and Mind Centre, University of Sydney, 94 Mallett Street, Camperdown, New South Wales 2050, Australia; Discipline of Pharmacology, Faculty of Medicine and Health, University of Sydney, Camperdown, New South Wales 2006, Australia; Lambert Initiative for Cannabinoid Therapeutics, University of Sydney, 94 Mallett Street, Camperdown, New South Wales 2050, Australia.

Jonathon C Arnold (JC)

From the Brain and Mind Centre, University of Sydney, 94 Mallett Street, Camperdown, New South Wales 2050, Australia; Discipline of Pharmacology, Faculty of Medicine and Health, University of Sydney, Camperdown, New South Wales 2006, Australia; Lambert Initiative for Cannabinoid Therapeutics, University of Sydney, 94 Mallett Street, Camperdown, New South Wales 2050, Australia.

Iain S McGregor (IS)

From the Brain and Mind Centre, University of Sydney, 94 Mallett Street, Camperdown, New South Wales 2050, Australia; Lambert Initiative for Cannabinoid Therapeutics, University of Sydney, 94 Mallett Street, Camperdown, New South Wales 2050, Australia; the School of Psychology, Faculty of Science, University of Sydney, Camperdown, New South Wales 2006, Australia.

Michael T Bowen (MT)

From the Brain and Mind Centre, University of Sydney, 94 Mallett Street, Camperdown, New South Wales 2050, Australia; Lambert Initiative for Cannabinoid Therapeutics, University of Sydney, 94 Mallett Street, Camperdown, New South Wales 2050, Australia; the School of Psychology, Faculty of Science, University of Sydney, Camperdown, New South Wales 2006, Australia.

Mary Chebib (M)

From the Brain and Mind Centre, University of Sydney, 94 Mallett Street, Camperdown, New South Wales 2050, Australia; School of Pharmacy, University of Sydney, Camperdown, New South Wales 2006, Australia. Electronic address: mary.collins@sydney.edu.au.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Substitution d'acide aminé › Functional genomics of epilepsy-associated...
questionsmedicales.fr › Eucaryotes › Animaux › Functional genomics of epilepsy-associated...
questionsmedicales.fr › Cellules › Structures cellulaires › Membrane cellulaire › Functional genomics of epilepsy-associated...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › Functional genomics of epilepsy-associated...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Functional genomics of epilepsy-associated...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Functional genomics of epilepsy-associated...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Sous-unités de protéines › Functional genomics of epilepsy-associated...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs aux neuromédiateurs › Récepteurs aux acides aminés › Récepteurs GABA › Récepteurs GABA-A › Functional genomics of epilepsy-associated...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Amphibiens › Anura › Pipidae › Xenopus › Xenopus laevis › Functional genomics of epilepsy-associated...
questionsmedicales.fr › Acides aminés, peptides et protéines › Acides aminés › Amino-butyrates › Acide gamma-amino-butyrique › Functional genomics of epilepsy-associated...