August 21, 2004FEBS LettersOpen Access

Truncated KCNQ1 mutant, A178fs/105, forms hetero‐multimer channel with wild‐type causing a dominant‐negative suppression due to trafficking defect

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Population

COS-7 cells expressing Ala178fs/105-KCNQ1 mutant and wild-type KCNQ1 channels

Comparison

Expression of Ala178fs/105-KCNQ1 mutant vs Wild-type KCNQ1 alone

Design

Preclinical

Authors

YAYoshiyasu AizawaShowa University KUKazuo UedaJapanese Foundation For Cancer Research LWLongmei WuAnhui Medical University

Discussion

Member takes

Implication

May guide functional assessment of KCNQ1 variants; leaves open broader therapeutic relevance beyond this animal model.

Structured PICO

Population

COS-7 cells expressing Ala178fs/105-KCNQ1 mutant and wild-type KCNQ1 channels

Intervention

Expression of Ala178fs/105-KCNQ1 mutant (alone or co-expressed with wild-type)

Comparator

Wild-type KCNQ1 alone

Outcome

Channel current expression and intracellular retention of channel proteinsurrogate

The novel Ala178fs/105-KCNQ1 mutation causes a dominant-negative effect via a trafficking defect, elucidating a new mechanism for Long QT syndrome type 1.

Cite This Study

Aizawa et al. (2004) studied this question.

synapsesocial.com/papers/6a815ab19d287e92cbe3a956 https://doi.org/10.1016/j.febslet.2004.08.018

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Truncated KCNQ1 mutant, A178fs/105, forms hetero‐multimer channel with wild‐type causing a dominant‐negative suppression due to trafficking defect

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Truncated KCNQ1 mutant, A178fs/105, forms hetero‐multimer channel with wild‐type causing a dominant‐negative suppression due to trafficking defect

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider