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.

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.

Item
http://www.wikidata.org/entity/Q39593426
ChannelopathiesmRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.Novel GABRG2 mutations cause familial febrile seizuresAltered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.The SCN1A gene variants and epileptic encephalopathies.The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy.Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.Missense Is No Nonsense for Epileptic Encephalopathies.When Proteins Start to Make Sense: Fine-tuning Aminoglycosides for PTC Suppression Therapy.De novo GABRG2 mutations associated with epileptic encephalopathies.A mutation in GABRB3 associated with Dravet syndrome.Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders.γ2 GABAR Trafficking and the Consequences of Human Genetic Variation
P2860

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.

Item
http://www.wikidata.org/entity/Q39593426
description
2012 nî lūn-bûn
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2012年の論文
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2012年論文
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2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
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2012年论文
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2012年论文
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2012年论文
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name
The GABRG2 nonsense mutation, ...... duced stop codon read-through.
@en
The GABRG2 nonsense mutation, ...... duced stop codon read-through.
@nl
type
label
The GABRG2 nonsense mutation, ...... duced stop codon read-through.
@en
The GABRG2 nonsense mutation, ...... duced stop codon read-through.
@nl
prefLabel
The GABRG2 nonsense mutation, ...... duced stop codon read-through.
@en
The GABRG2 nonsense mutation, ...... duced stop codon read-through.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
The GABRG2 nonsense mutation, ...... nduced stop codon read-through
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932