Article
Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel.
PloS one - 1 Jan 2012
Harley Carol A, Jesus Catarina S H, Carvalho Ricardo, Brito Rui M M, Morais-Cabral João H
Abstract excerpt
Inherited human long-QT2 syndrome (LQTS) results from mutations in the gene encoding the HERG channel. Several LQT2-associated mutations have been mapped to the amino terminal cytoplasmic Per-Arnt-Sim (PAS) domain of the HERG1a channel subunit. Here we have characterized the trafficking properties of some LQT2-associated PAS domain mutants and analyzed rescue of the trafficking mutants by low temperature (27°C)...
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