ArticleHuman molecular genetics2016
Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy).
Open access · bronzeAbstract read
In one paragraph
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
1.9field-weighted citation impact, top 17% of its field
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.
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
24 citing papers in PubMed, 33 citations in OpenAlex.
- CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype.Human molecular genetics · 2026Article
- Upcycled Animal Protein Hydrolysates for Gilthead Seabream: Impact on Growth Performance, Nutrient Utilisation, Intestinal Structure and Skeletal Muscle Gene Expression.Aquaculture nutrition · 2026Article
- Recent insights into limb-girdle muscular dystrophy: Impacts, therapy, and challenges.Histology and histopathology · 2025Review
- Age, muscle, and gender specific characterization of muscle degeneration in a mouse model of calpainopathy.Scientific reports · 2025Article
- Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.Journal of neuromuscular diseases · 2025Review
- Modelling energy metabolism dysregulations in neuromuscular diseases: A case study of calpainopathy.Heliyon · 2024Article
- Loss of Calpain 3 dysregulates store-operated calcium entry and its exercise response in mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Article
- Cas9-induced single cut enables highly efficient and template-free repair of a muscular dystrophy causing founder mutation.Molecular therapy. Nucleic acids · 2023Article
- Loss ofGenes · 2023Article
- Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations.Frontiers in cell and developmental biology · 2022Article
- Molecular and cellular basis of genetically inherited skeletal muscle disorders.Nature reviews. Molecular cell biology · 2021Review
- CAPN3: A muscle‑specific calpain with an important role in the pathogenesis of diseases (Review).International journal of molecular medicine · 2021Review
- Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1.Molecular therapy. Methods & clinical development · 2021Article
- microRNA-mRNA Profile of Skeletal Muscle Differentiation and Relevance to Congenital Myotonic Dystrophy.International journal of molecular sciences · 2021Article
- A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKIIβ Signaling in Limb Girdle Muscular Dystrophy.Cell reports. Medicine · 2020Article
- The ties that bind: functional clusters in limb-girdle muscular dystrophy.Skeletal muscle · 2020Review
- Genetic Counseling and NGS Screening for Recessive LGMD2A Families.High-throughput · 2020Article
- Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Article
- Calcium Mechanisms in Limb-Girdle Muscular Dystrophy withInternational journal of molecular sciences · 2019Review
- Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report.Frontiers in neurology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 2 countries.
Irina KramerovaDepartment of Neurology, David Geffen School of Medicine Center for Duchenne Muscular Dystrophy ikramero@ucla.edu mspencer@mednet.ucla.edu.
Natalia ErmolovaDepartment of Neurology, David Geffen School of Medicine Center for Duchenne Muscular Dystrophy.
Ascia EskinCenter for Duchenne Muscular Dystrophy Department of Human Genetics, David Geffen School of Medicine.
Andrea HevenerCenter for Duchenne Muscular Dystrophy Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Oswald QuehenbergerDepartment of Medicine Department of Pharmacology, University of California, San Diego, CA 92093, USA.
Aaron M ArmandoDepartment of Pharmacology, University of California, San Diego, CA 92093, USA.
Ronald HallerDepartment Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX 75390, USA Neuromuscular Center, Institute for Exercise and Environmental Medicine, Texas Health Presbyterian Hospital, Dallas, TX 75231, USA.
Nadine RomainNeuromuscular Center, Institute for Exercise and Environmental Medicine, Texas Health Presbyterian Hospital, Dallas, TX 75231, USA.
Stanley F NelsonCenter for Duchenne Muscular Dystrophy Department of Human Genetics, David Geffen School of Medicine.
Melissa J SpencerDepartment of Neurology, David Geffen School of Medicine Center for Duchenne Muscular Dystrophy ikramero@ucla.edu mspencer@mednet.ucla.edu.
Duchenne Parent Project · NLUniversity of California, San Diego · USSouthwestern Medical CenterTexas Health Dallas · US
Funding
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4MTraining and education CoreU54AR052646 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI MCNALLY, ELIZABETH M, SWEENEY, H LEE · 2005 to 2020
$24.1MUCLA Muscular Dystrophy Core CenterP30AR057230 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SPENCER, MELISSA JAN · 2009 to 2018
$6.2MMechanisms Underlying Limb Girdle Muscular Dystrophy2A Due to Calpain 3 MutationsR01AR048177 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SPENCER, MELISSA JAN · 2001 to 2016
$6.1MMechanisms controlling skeletal muscle mitochondrial function and metabolic healthR01DK109724 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI HEVENER, ANDREA L · 2016 to 2020
$2.4MNIAMS NIH HHS P30 AR057230NIAMS NIH HHS R01 AR048177NIAMS NIH HHS U54 AR052646NIDDK NIH HHS P30 DK063491NIDDK NIH HHS R01 DK109724
Abstract
Limb girdle muscular dystrophy 2A is due to loss-of-function mutations in the Calpain 3 (CAPN3) gene. Our previous data suggest that CAPN3 helps to maintain the integrity of the triad complex in skeletal muscle. In Capn3 knock-out mice (C3KO), Ca
Indexed as
AnimalsCalcium-Calmodulin-Dependent Protein Kinase Type 2Calcium SignalingCalpainGene Expression RegulationHumansMiceMice, KnockoutMuscle ProteinsMuscle, SkeletalMuscular Dystrophies, Limb-GirdleMutationOxidative Stressp38 Mitogen-Activated Protein KinasesPeroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaTranscriptional ActivationCalcium-Calmodulin-Dependent Protein Kinase Type 2CalpainCapn3 protein, mouseMuscle Proteinsp38 Mitogen-Activated Protein KinasesPeroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaPpargc1a protein, mouse
Identifiers
What OpenQuestion holds
Textmetadata
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.