Why the study?
Does the G601S HERG mutation alter channel electrophysiology or trafficking compared to wild-type in cellular models?
Does the G601S HERG mutation alter channel electrophysiology or trafficking compared to wild-type in cellular models?
The G601S HERG mutation causes LQT2 via a novel mechanism of deficient protein trafficking to the plasma membrane, resulting in reduced current amplitude.
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Should not change LQT2 management; leaves open trafficking-targeted rescue in cellular models.
Furutani et al. (1999) studied this question.
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