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.

Huang X, Tian M, Hernandez CC, Hu N, Macdonald RL
Neurobiol Dis. 2012 48 (1): 115-23

PMID: 22750526 · PMCID: PMC3762464 · DOI:10.1016/j.nbd.2012.06.013

MeSH Terms (9)

Aminoglycosides Codon, Nonsense Codon, Terminator Epilepsies, Myoclonic HEK293 Cells Humans Nonsense Mediated mRNA Decay Protein Subunits Receptors, GABA-A

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