CoChat
Sign Up
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
Open this paper in CoChat — free account

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.

Overview

Integrity signals

Registry

Crossref · 10.1038/nature01335

Cites

34 of 34 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Verification

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Citations

Cites

Show all 35 references

Cited by

Sorted by citations

See all 957

Related

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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review