ArticleNature communications2017
A chemical chaperone improves muscle function in mice with a RyR1 mutation.
Open access · goldAbstract read
In one paragraph
Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
0numbers the graph read from it
0cells of the map it votes in
51citing papers in PubMed
3.9field-weighted citation impact, top 5% of its field
What it found
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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.
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.
Who cites it
51 citing papers in PubMed, 71 citations in OpenAlex.
- Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants' Experience.The patient · 2020Trial
- Randomized controlled trial ofNeurology · 2020Trial
- Correlation of phenotype with genotype and protein structure in RYR1-related disorders.Journal of neurology · 2018Trial
- ER proteostasis meets mitochondrial function: contact sites as hubs of communication and therapeutic targets.The FEBS journal · 2026Review
- Molecular genetics of skeletal muscle diseases associated with abnormal excitation-contraction coupling.Journal of human genetics · 2026Review
- Mechanotransduction Failure and Molecular Rescue in Gastric Cancer: Kinetotherapy Across the IL-6/STAT3-Myostatin/ACVR2B-Akt/mTOR Axis.Medical sciences (Basel, Switzerland) · 2026Review
- Mitochondria-sarcoplasmic reticulum crosstalk as a modulator of skeletal muscle mass.Journal of physiology and biochemistry · 2026Review
- Pyrazolone-based ERO1 inhibitors in ERO1-driven triple-negative breast cancer and SEPN1-related myopathy: Structure-activity relationship and therapeutic potential.Pharmacological research · 2025Article
- Molecular Insights into Central Core Disease: Proteomic Signatures and Potential Therapeutic Biomarkers in RYR1 I4895T Mice.International journal of molecular sciences · 2025Article
- Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.Journal of neuromuscular diseases · 2025Article
- RyR1 Is Involved in the Control of Myogenesis.Cells · 2025Article
- Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review.British journal of anaesthesia · 2024Review
- Unusual cause of muscle weakness, type II respiratory failure and pulmonary hypertension: a case report of ryanodine receptor type 1(RYR1)-related myopathy.BMC pulmonary medicine · 2024Article
- ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome.JCI insight · 2024Article
- Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy.The American journal of pathology · 2023Article
- Article
- Using mass spectrometry imaging to visualize age-related subcellular disruption.Frontiers in molecular biosciences · 2023Review
- Loss-of-rescue of Ryr1Scientific reports · 2022Article
- Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.The Journal of general physiology · 2022Review
- Mitigating sarcoplasmic reticulum stress limits disuse-induced muscle loss in hindlimb unloaded mice.NPJ microgravity · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 2 institutions in 3 countries.
Chang Seok LeeDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Amy D HannaDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Hui WangDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.ORCID 0000-0003-2654-0243
Adan Dagnino-AcostaDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Aditya D JoshiDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Mark KnoblauchDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Yan XiaDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Dimitra K GeorgiouDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Jianjun XuDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Cheng LongDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Hisayuki AmanoDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Corey ReynoldsDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Keke DongDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
John C MartinDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
William R LagorDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
George G RodneyDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Ergun SahinDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Caroline SewryDubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, 30 Guilford Street, London WC1N 1EH, UK.
Susan L HamiltonDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Baylor College of Medicine · USGreat Ormond Street Hospital · GB
Funding
Consortium for Broad Based Disease Phenotyping of Knockout MiceU54HG006348 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BEAUDET, ARTHUR L., PAYLOR, RICHARD E · 2011 to 2015
$17.0MBasis of Muscle Dysfunction in Malignant Hyperthermia & Central Core DiseaseR01AR053349 · NIAMS · BAYLOR COLLEGE OF MEDICINE · PI DIRKSEN, ROBERT T, HAMILTON, SUSAN L · 2006 to 2020
$8.0MMolecular Physiology of the Cardiovascular SystemT32HL007676 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI HAMILTON, SUSAN L · 1989 to 2020
$7.9MNox2-Calcium Signaling in Skeletal MuscleR01AR061370 · NIAMS · BAYLOR COLLEGE OF MEDICINE · PI RODNEY, GEORGE G · 2012 to 2021
$4.1MSupplement to existing R01 to increase diversity in health-related scienceR01AG047924 · NIA · BAYLOR COLLEGE OF MEDICINE · PI SAHIN, ERGUN · 2015 to 2019
$1.7MNHGRI NIH HHS U54 HG006348NHLBI NIH HHS T32 HL007676NIAMS NIH HHS R01 AR053349NIAMS NIH HHS R01 AR061370NIA NIH HHS R01 AG047924
Abstract
Mutations in the RYR1 gene cause severe myopathies. Mice with an I4895T mutation in the type 1 ryanodine receptor/Ca
Indexed as
AnimalsApoptosisCalciumCalcium SignalingCalsequestrinCarrier ProteinsEndoplasmic Reticulum StressMaleMice, Inbred C57BLMice, Mutant StrainsMitochondriaMuscle ProteinsMuscle, SkeletalMutationOxidative StressPhenotype4-phenylbutyric acidCalciumCalsequestrinCarrier ProteinsMuscle ProteinsPhenylbutyratesReactive Oxygen SpeciesRyanodine Receptor Calcium Release Channeltriadin
Identifiers
What Socratic holds
Textmetadata
LicenceCC BY
Read underepoch 390
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 Socratic graph.