Evidence map›Paper›PMID 32384912›Full record

ArticleSkeletal muscle2020

SMN-deficiency disrupts SERCA2 expression and intracellular Ca

Guzal Khayrullina, Kasey E Moritz, James F Schooley, Naheed Fatima, Coralie Viollet, Nikki M McCormack, Jeremy T Smyth, Martin L Doughty, Clifton L Dalgard, Thomas P Flagg and 1 more

Open access · goldAbstract read
In one paragraph

Article in Skeletal muscle, 2020. 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
1.2field-weighted citation impact, top 22% of its field
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, 19 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Review
  5. Article
  6. Article
  7. Article
  8. Patient-specific responses toMolecular therapy. Methods & clinical development · 2024
    Article
  9. Article
  10. Article
  11. Mitochondrial Dysfunction in Spinal Muscular Atrophy.International journal of molecular sciences · 2022
    Review
  12. Article
  13. Article
  14. Article
  15. Article
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

11 authors at 2 institutions in 1 country.

Guzal KhayrullinaDepartment of Anatomy, Physiology and Genetics, F. Edward Hebert School of Medicine, Bethesda, MD, USA.
Kasey E MoritzDepartment of Anatomy, Physiology and Genetics, F. Edward Hebert School of Medicine, Bethesda, MD, USA.
James F Schooley
Naheed FatimaDepartment of Anatomy, Physiology and Genetics, F. Edward Hebert School of Medicine, Bethesda, MD, USA.
Coralie ViolletDepartment of Anatomy, Physiology and Genetics, F. Edward Hebert School of Medicine, Bethesda, MD, USA.
Nikki M McCormackDepartment of Anatomy, Physiology and Genetics, F. Edward Hebert School of Medicine, Bethesda, MD, USA.
Jeremy T SmythDepartment of Anatomy, Physiology and Genetics, F. Edward Hebert School of Medicine, Bethesda, MD, USA.
Martin L DoughtyDepartment of Anatomy, Physiology and Genetics, F. Edward Hebert School of Medicine, Bethesda, MD, USA.
Clifton L DalgardDepartment of Anatomy, Physiology and Genetics, F. Edward Hebert School of Medicine, Bethesda, MD, USA.
Thomas P FlaggDepartment of Anatomy, Physiology and Genetics, F. Edward Hebert School of Medicine, Bethesda, MD, USA. Thomas.Flagg@usuhs.edu.
Barrington G BurnettDepartment of Anatomy, Physiology and Genetics, F. Edward Hebert School of Medicine, Bethesda, MD, USA. Barrington.Burnett@usuhs.edu.ORCID 0000-0002-5001-3358
Uniformed Services University of the Health Sciences · USHoward University · US

Funding

Calcium Dysregulation and Cell Function in Spinal Muscular AtrophyR01NS119594 · NINDS · HENRY M. JACKSON FDN FOR THE ADV MIL/MED · PI BURNETT, BARRINGTON G, FLAGG, THOMAS · 2021 to 2025
$2.0M
Targeting the Ubiquitin Proteasome System to Treat Spinal Muscular AtrophyR01NS091575 · NINDS · HENRY M. JACKSON FDN FOR THE ADV MIL/MED · PI BURNETT, BARRINGTON G · 2016 to 2020
$1.5M
NIH HHS R01NS091575NINDS NIH HHS R01 NS091575NINDS NIH HHS R01 NS119594
6 · The paper itself

Abstract

Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by loss of alpha motor neurons and skeletal muscle atrophy. The disease is caused by mutations of the SMN1 gene that result in reduced functional expression of survival motor neuron (SMN) protein. SMN is ubiquitously expressed, and there have been reports of cardiovascular dysfunction in the most severe SMA patients and animal models of the disease. In this study, we directly assessed the function of cardiomyocytes isolated from a severe SMA model mouse and cardiomyocytes generated from patient-derived IPSCs. Consistent with impaired cardiovascular function at the very early disease stages in mice, heart failure markers such as brain natriuretic peptide were significantly elevated. Functionally, cardiomyocyte relaxation kinetics were markedly slowed and the T

Indexed as

Calcium SignalingAnimalsCell LineCells, CulturedHumansInduced Pluripotent Stem CellsMiceMuscular Atrophy, SpinalMyocytes, CardiacSarcoplasmic Reticulum Calcium-Transporting ATPasesSurvival of Motor Neuron 1 ProteinATP2A2 protein, humanSarcoplasmic Reticulum Calcium-Transporting ATPasesSMN1 protein, humanSurvival of Motor Neuron 1 Protein

Identifiers

PMID32384912
PMCPMC7206821
OpenAlexW3022729314

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.