Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 4 Mar 2009

Kang Jing-Qiong, Shen Wangzhen, Macdonald Robert L

Abstract excerpt

Approximately one-third of human genetic diseases are caused by premature translation-termination codon (PTC)-generating mutations. These mutations in sodium channel and GABA(A) receptor genes have been associated with idiopathic generalized epilepsies, but the cellular consequences of the PTCs on the mutant channel subunit biogenesis and function are unknown. The PTCs could result in translation of a truncated...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biotinylation
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum

Share to Microscopy, Confocal

Share to Molecular Chaperones

Share to Proteasome Endopeptidase Complex

Share to Receptors, GABA-A

Share to Ubiquitin

Source

Open in PubMed Open full text

Identifiers

PMID: 19261879
DOI: 10.1523/JNEUROSCI.4512-08.2009
PMCID: PMC2687144

Genes

GABRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X.PMID 19261879Read ↗

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.Semantic proximity Read ↗

mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.Semantic proximity Read ↗

Nonsense-mediated mRNA decay in neuronal physiology and neurodegenerationSemantic proximity Read ↗

Mechanism, factors, and physiological role of nonsense-mediated mRNA decay.Semantic proximity Read ↗

<i>GABRA1</i> frameshift variants impair GABA <sub>A</sub> receptor proteostasisSemantic proximity Read ↗

Messenger RNA Translation Defects in Neurodegenerative DiseasesSemantic proximity Read ↗

Lost in Translation: Ribosome-Associated mRNA and Protein Quality ControlsSemantic proximity Read ↗

Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.Semantic proximity Read ↗

Nonsense-Mediated mRNA Decay of hERG Mutations in Long QT Syndrome.Semantic proximity Read ↗

NMD: RNA biology meets human genetic medicine.Semantic proximity Read ↗

Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndrome.Semantic proximity Read ↗

Nonsense-mediated mRNA decay: inter-individual variability and human disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.