Evidence map›Paper›PMID 39297138›Full record

ReviewJACC. Basic to translational science2024

Reassessing the Mechanisms of PLN-R14del Cardiomyopathy: From Calcium Dysregulation to S/ER Malformation.

Nienke M Stege, Rudolf A de Boer, Catherine A Makarewich, Peter van der Meer, Herman H W Silljé

Abstract readReview
In one paragraph

Review in JACC. Basic to translational science, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed.

  1. Article
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  11. Tailored therapeutics for cardiomyopathies.Nature reviews. Cardiology · 2025
    Review
  12. Review
  13. Identification of disease-specific pathways and modifiers in phospholamban R14del cardiomyopathy: rationale, design and baseline characteristics of DECIPHER-PLN cohort.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2025
    Article
  14. Article
  15. Genetic landscape of phospholamban cardiomyopathies.Frontiers in cell and developmental biology · 2025
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Nienke M StegeDepartment of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Rudolf A de BoerErasmus Medical Center, Cardiovascular Institute, Thorax Center, Department of Cardiology, Rotterdam, the Netherlands.
Catherine A MakarewichDivision of Molecular Cardiovascular Biology of the Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Peter van der MeerDepartment of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Herman H W SilljéDepartment of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The phospholamban (PLN) pathogenic gene variant, p.Arg14del (PLN-R14del), can lead to dilated and arrhythmogenic cardiomyopathy, resulting in heart failure. PLN-R14del cardiomyopathy has been conceptualized as a disease caused by sarco/endoplasmic reticulum calcium adenosine triphosphatase 2a (SERCA2a) superinhibition. However, recent studies raised controversy regarding the effect of PLN-R14del on SERCA activity and revealed a prominent role for abnormal PLN protein distribution and sarco/endoplasmic reticulum disorganization as underlying disease mechanism. Strategies targeting sarco/endoplasmic reticulum malformation may, therefore, prove more effective than SERCA activity modulation. This review reassesses the disease mechanisms of PLN-R14del cardiomyopathy and emphasizes the importance of dissecting the underlying molecular mechanisms to uncover targets for innovative treatments.

Indexed as

aggregationcardiomyopathydisease mechanismp.Arg14delphospholambansarcoplasmic reticulumSERCA

Identifiers

PMID39297138
PMCPMC11405888

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.