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Cited by 957Cardiac electrophysiology and arrhythmiasIon channel regulation and functionIon Transport and Channel Regulation

The DOI matches its Crossref record; 34 of the 35 references it cites were found in a registry or an index.

Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death

Mohler, Peter J., Schott, Jean-Jacques, Gramolini, Anthony O., Dilly, Keith W., Guatimosim, Silvia, duBell, William H., Song, Long-Sheng, Haurogné, Karine, Kyndt, Florence, Ali, Mervat E., Rogers, Terry B., Lederer, W. J., Escande, Denis, Marec, Herve Le, Bennett, Vann·2003·Nature
DOI 10.1038/nature01335
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Abstract

Mutations in ion channels involved in the generation and termination of action potentials constitute a family of molecular defects that underlie fatal cardiac arrhythmias in inherited long-QT syndrome. We report here that a loss-of-function (E1425G) mutation in ankyrin-B (also known as ankyrin 2), a member of a family of versatile membrane adapters, causes dominantly inherited type 4 long-QT cardiac arrhythmia in humans. Mice heterozygous for a null mutation in ankyrin-B are haploinsufficient and display arrhythmia similar to humans. Mutation of ankyrin-B results in disruption in the cellular organization of the sodium pump, the sodium/calcium exchanger, and inositol-1,4,5-trisphosphate receptors (all ankyrin-B-binding proteins), which reduces the targeting of these proteins to the transverse tubules as well as reducing overall protein level. Ankyrin-B mutation also leads to altered Ca2+ signalling in adult cardiomyocytes that results in extrasystoles, and provides a rationale for the arrhythmia. Thus, we identify a new mechanism for cardiac arrhythmia due to abnormal coordination of multiple functionally related ion channels and transporters.

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Crossref · 10.1038/nature01335

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Metadata

Authors
Mohler, P. J., Schott, J.-J., Gramolini, A. O., Dilly, K. W., Guatimosim, S., duBell, W. H., Song, L.-S., Haurogné, K., Kyndt, F., Ali, M. E., Rogers, T. B., Lederer, W. J., Escande, D., Marec, H. L., & Bennett, V.
Affiliations
  • Howard Hughes Medical Institute (US)
  • Inserm (FR)
  • University of Maryland, Baltimore (US)
Corresponding author
Bennett, Vann
ORCID
Venue
Nature
Publisher
Springer Science and Business Media LLC
Published
2003-02
Volume
421
Issue
6923
Pages
634-639
ISSN
  • 0028-0836 (ISSN-L)
  • 1476-4687
DOI
10.1038/nature01335
OpenAlex
W2115923216
Cited by
957
References
35
Citations by year
2026: 8 · 2025: 7 · 2024: 14 · 2023: 19 · 2022: 23 · 2021: 19 · 2020: 18 · 2019: 22 · 2018: 22 · 2017: 29 · 2016: 27 · 2015: 33 · 2014: 30 · 2013: 56 · 2012: 55
FWCI
63.04
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Nature (publishedVersion)
  • PubMed (publishedVersion)
  • RePEc: Research Papers in Economics (submittedVersion)
Funders
  • Howard Hughes Medical Institute
  • Institut National de la Santé et de la Recherche Médicale
Topics
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion Transport and Channel Regulation
Keywords
ankyrin-B, sudden cardiac death, cardiac arrhythmias, loss-of-function mutations, haploinsufficiency, Na+/K+-ATPase, Na+/Ca2+ exchanger, IP3 receptor, T-tubules, protein targeting, calcium signaling, extrasystoles
MeSH terms
Action Potentials, Sodium-Potassium-Exchanging ATPase, Animals, Bradycardia, Electrocardiography, Female, Heart, Heart Rate, Heterozygote, Humans, Long QT Syndrome, Male, Mutation, Myocardium, Pedigree, Phenotype, Protein Binding, Calcium Channels, Death, Sudden, Cardiac, Ankyrins, Receptors, Cytoplasmic and Nuclear, Patch-Clamp Techniques, Sodium-Calcium Exchanger, Calcium Signaling, Mice, Inositol 1,4,5-Trisphosphate Receptors

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