ArticleiScience2023
Experimental evidence and clinical implications of Warburg effect in the skeletal muscle of Fabry disease.
Article in iScience, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled 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.
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
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Cardiological aspects of Fabry disease: from diagnosis to therapeutic efficacy assessment.Orphanet journal of rare diseases · 2026Review
- A proteomic atlas phenotyping Fabry disease identifies a precise cardiovascular risk signature that integrates mitochondrial and lysosomal pathways.Journal of molecular medicine (Berlin, Germany) · 2026Review
- Early mitophagy defects and impaired mitochondrial energy metabolism drive target organ damage progression: lessons from the Fabry heart.bioRxiv : the preprint server for biology · 2026Article
- Lactylation-mitochondria axis in chronic kidney disease: metabolic reprogramming, epigenetic dysregulation, and therapeutic potential.Molecular and cellular biochemistry · 2026Review
- Unveiling Functional Impairment in Fabry Disease: The Role of Peripheral vs. Cardiac Mechanisms.Biomedicines · 2025Article
- Lactate and lactylation: novel perspectives on fibrosis pathogenesis and therapeutic directions.Journal of translational medicine · 2025Review
- Hemodialysis employing molecular hydrogen (HScientific reports · 2025Article
- Cardiac involvement in Fabry disease: Recent advances, unresolved issues, and unmet needs.European heart journal supplements : journal of the European Society of Cardiology · 2025Article
- Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development.Frontiers in pharmacology · 2025Review
- L-Arginine supplementation as mitochondrial therapy in diabetic cardiomyopathy.Cardiovascular diabetology · 2024Article
- Fatigue as hallmark of Fabry disease: role of bioenergetic alterations.Frontiers in cardiovascular medicine · 2024Review
- Infertility in Fabry's Disease: role of hypoxia and inflammation in determining testicular damage.Frontiers in endocrinology · 2024Article
- Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease.Frontiers in cardiovascular medicine · 2024Review
- Overexpression of VEGFα as a biomarker of endothelial dysfunction in aortic tissue of α-GAL-Tg/KO mice and its upregulation in the serum of patients with Fabry's disease.Frontiers in cardiovascular medicine · 2024Article
- Prevalence of papillary muscle hypertrophy in fabry disease.BMC cardiovascular disorders · 2023Article
- Low skeletal muscle mass as an early sign in children with fabry disease.Orphanet journal of rare diseases · 2023Article
- Review
- Rewiring the mTOR, CDH1, APC/C, PFKFB3 axis: a glycolytic pulse to ignite the G0/G1 gateway.Cell cycle (Georgetown, Tex.)Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 4 institutions in 2 countries.
Funding
Abstract
Skeletal muscle (SM) pain and fatigue are common in Fabry disease (FD). Here, we undertook the investigation of the energetic mechanisms related to FD-SM phenotype. A reduced tolerance to aerobic activity and lactate accumulation occurred in FD-mice and patients. Accordingly, in murine FD-SM we detected an increase in fast/glycolytic fibers, mirrored by glycolysis upregulation. In FD-patients, we confirmed a high glycolytic rate and the underutilization of lipids as fuel. In the quest for a tentative mechanism, we found HIF-1 upregulated in FD-mice and patients. This finding goes with miR-17 upregulation that is responsible for metabolic remodeling and HIF-1 accumulation. Accordingly, miR-17 antagomir inhibited HIF-1 accumulation, reverting the metabolic-remodeling in FD-cells. Our findings unveil a Warburg effect in FD, an anaerobic-glycolytic switch under normoxia induced by miR-17-mediated HIF-1 upregulation. Exercise-intolerance, blood-lactate increase, and the underlying miR-17/HIF-1 pathway may become useful therapeutic targets and diagnostic/monitoring tools in FD.
Indexed as
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What OpenQuestion holds
Registered trials
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.