Related references
Note: Only part of the references are listed.Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation
Matthew R. Stump et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2012)
Changes in Channel Trafficking and Protein Stability Caused by LQT2 Mutations in the PAS Domain of the HERG Channel
Carol A. Harley et al.
PLOS ONE (2012)
Isoform-Specific Dominant-Negative Effects Associated with hERG1 G628S Mutation in Long QT Syndrome
Matthew R. Stump et al.
PLOS ONE (2012)
Multiple splicing defects caused by hERG splice site mutation 2592+1G > A associated with long QT syndrome
Matthew R. Stump et al.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY (2011)
Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome
Ignatius Gerardo Zarraga et al.
HEART RHYTHM (2011)
Mechanistic Insight into Human ether-a-go-go-related Gene (hERG) K+ Channel Deactivation Gating from the Solution Structure of the EAG Domain
Frederick W. Muskett et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndrome
Qiuming Gong et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2011)
HERG1 channelopathies
Michael C. Sanguinetti
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2010)
A recombinant N-terminal domain fully restores deactivation gating in N-truncated and long QT syndrome mutant hERG potassium channels
Ahleah S. Gustina et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long-QT syndrome
Qiuming Gong et al.
CIRCULATION (2007)
The 185delAG mutation (c.68_ 69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon
Monique Buisson et al.
HUMAN MUTATION (2006)
Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites
Marianne Paulsen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism
CL Anderson et al.
CIRCULATION (2006)
HERG channel (dys)function revealed by dynamic action potential clamp technique
G Berecki et al.
BIOPHYSICAL JOURNAL (2005)
Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland
H Fodstad et al.
ANNALS OF MEDICINE (2004)
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
K Inoue et al.
NATURE GENETICS (2004)
New insights into the formation of active nonsensemediated decay complexes
G Singh et al.
TRENDS IN BIOCHEMICAL SCIENCES (2003)
Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20
Y Ishigaki et al.
CELL (2001)
Molecular and cellular mechanisms of cardiac arrhythmias
MT Keating et al.
CELL (2001)
The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions
H Le Hir et al.
EMBO JOURNAL (2000)
Spectrum of mutations in long-QT syndrome genes KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
I Splawski et al.
CIRCULATION (2000)