IndraLab

Statements


PLA1A inhibits mutated KCNH2. 2 / 2
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"In heterozygous Q1070X carriers, NMD eliminates most of the mutant HERG mRNA and leads to haploinsufficiency, thereby reducing the dominant negative effect of the mutant protein."

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"In the present study, we tested the hypothesis that inhibition of NMD can restore functional expression of the hERG mutations associated with long QT syndrome."