(Q39401035)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22309168%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel (English)

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22 January 2020

1

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22 January 2020

author name string

Jagdeep S Mohal

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22309168%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Duncan Kemp

series ordinal

3

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22 January 2020

Andrew Tinker

series ordinal

4

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22 January 2020

language of work or name

English

0 references

publication date

1 May 2012

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22 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22309168%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

volume

443

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22 January 2020

issue

3

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22 January 2020

page(s)

635-642

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22309168%20AND%20SRC:MED&resulttype=core&format=json

Stoichiometry of the KCNQ1 - KCNE1 ion channel complex.

22 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Long QT syndromes and torsade de pointes

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Mutations in the hminK gene cause long QT syndrome and suppress IKs function

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1 mutant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Mechanisms of disease pathogenesis in long QT syndrome type 5

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Negamycin restores dystrophin expression in skeletal and cardiac muscles of mdx mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Nonaminoglycoside compounds induce readthrough of nonsense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

PTC124 targets genetic disorders caused by nonsense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Cystic fibrosis transmembrane conductance regulator protein repair as a therapeutic strategy in cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Characterization of a binding site for anionic phospholipids on KCNQ1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Direct observation of individual KCNQ1 potassium channels reveals their distinctive diffusive behavior

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Molecular basis for the high-affinity binding and stabilization of firefly luciferase by PTC124

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Targeting RNA to treat neuromuscular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Patient-specific induced pluripotent stem-cell models for long-QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

The nonsense-mediated decay RNA surveillance pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

Long QT syndrome: reduced repolarization reserve and the genetic link

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111912

21 January 2018

Identifiers

DOI

10.1042/BJ20111912

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22309168%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference