LQT2 nonsense mutations generate trafficking defective NH2-terminally truncated channels by the reinitiation of translation

Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation

(2012) Matthew R. Stump et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Changes in Channel Trafficking and Protein Stability Caused by LQT2 Mutations in the PAS Domain of the HERG Channel

(2012) Carol A. Harley et al.   PLoS One

Isoform-Specific Dominant-Negative Effects Associated with hERG1 G628S Mutation in Long QT Syndrome

(2012) Matthew R. Stump et al.   PLoS One

Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome

(2011) Ignatius Gerardo Zarraga et al.   HEART RHYTHM

Multiple splicing defects caused by hERG splice site mutation 2592+1G>A associated with long QT syndrome

(2010) Matthew R. Stump et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Mechanistic Insight into Humanether-à-go-go-related Gene (hERG) K+Channel Deactivation Gating from the Solution Structure of the EAG Domain

(2010) Frederick W. Muskett et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndrome

(2010) Qiuming Gong et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

HERG1 channelopathies

(2009) Michael C. Sanguinetti   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

A recombinant N-terminal domain fully restores deactivation gating in N-truncated and long QT syndrome mutant hERG potassium channels

(2009) A. S. Gustina et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA