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Journal article

The V2475F CPVT1 mutation yields distinct RyR2 channel populations that differ in their responses to cytosolic Ca2+ and Mg2+

Abstract:

Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) is a lethal genetic disease causing arrhythmias and sudden cardiac death in children and young adults and is linked to mutations in the cardiac ryanodine receptor (RyR2). The effects of CPVT1 mutations on RyR2 ion-channel function are often investigated using purified recombinant RyR2 channels homozygous for the mutation. However, CPVT1 patients are heterozygous for the disease, so this approach does not reveal the true c...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1113/jp281707

Authors


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Role:
Author
ORCID:
0000-0002-9786-3405
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Role:
Author
ORCID:
0000-0003-1384-7465
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Institution:
University of Oxford
Division:
MSD
Department:
Pharmacology
Oxford college:
Linacre College
Role:
Author
ORCID:
0000-0003-0405-1385
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Role:
Author
ORCID:
0000-0001-9302-1537
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Role:
Author
ORCID:
0000-0003-1231-6267
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Grant:
PG/19/38/34403
PG/19/67/34607
RG/10/14/28576
Publisher:
Wiley Publisher's website
Journal:
Journal of Physiology Journal website
Volume:
599
Issue:
23
Pages:
5179-5201
Publication date:
2021-11-09
Acceptance date:
2021-09-30
DOI:
EISSN:
1469-7793
ISSN:
0022-3751
Pmid:
34676560
Language:
English
Keywords:
Pubs id:
1206222
Local pid:
pubs:1206222
Deposit date:
2022-03-12

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