ArticleJCI insight2019
Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy.
Article in JCI insight, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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
26 citing papers in PubMed, 38 citations in OpenAlex.
- Integration of GWAS and eQTL analysis reveals regulatory CNVs for fatty acid traits in cattle.iScience · 2026Article
- Lipid droplet-associated proteins: Roles in cardiovascular diseases.Journal of lipid research · 2026Review
- Triglycerides play a crucial role in the pathway from depression to cardiomyopathy: A mediation Mendelian randomization study.Medicine · 2026Article
- Seipin-Mediated Lipid Droplet Formation in Cardiomyocytes Ameliorates Cardiac Ischemia/Reperfusion Injury.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Decoding the Lipid Droplet Proteome: New Frontiers in Cardiovascular Disease Research.International journal of molecular sciences · 2025Review
- Article
- Preclinical evaluation of tissue-selective gene therapies for congenital generalised lipodystrophy.Gene therapy · 2024Article
- AGPAT3 deficiency impairs adipocyte differentiation and leads to a lean phenotype in mice.American journal of physiology. Endocrinology and metabolism · 2024Article
- Nazo, the Drosophila homolog of the NBIA-mutated protein-c19orf12, is required for triglyceride homeostasis.PLoS genetics · 2024Article
- Article
- The Effect ofAnimals : an open access journal from MDPI · 2023Article
- Deficiency of Adipose Triglyceride Lipase Induces Metabolic Syndrome and Cardiomyopathy in Zebrafish.International journal of molecular sciences · 2022Article
- Gene therapy restores adipose tissue and metabolic health in a pre-clinical mouse model of lipodystrophy.Molecular therapy. Methods & clinical development · 2022Article
- Role of Seipin in Human Diseases and Experimental Animal Models.Biomolecules · 2022Review
- Small-Molecule Inhibitors Targeting Lipolysis in Human Adipocytes.Journal of the American Chemical Society · 2022Article
- BSCL2/Seipin deficiency in hearts causes cardiac energy deficit and dysfunction via inducing excessive lipid catabolism.Clinical and translational medicine · 2022Article
- Seipin Deficiency as a Model of Severe Adipocyte Dysfunction: Lessons from Rodent Models and Teaching for Human Disease.International journal of molecular sciences · 2022Review
- Not Enough Fat: Mouse Models of Inherited Lipodystrophy.Frontiers in endocrinology · 2022Review
- Seipin: harvesting fat and keeping adipocytes healthy.Trends in cell biology · 2021Review
- Insulin at 100 years - is rebalancing its action key to fighting obesity-related disease?Disease models & mechanisms · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in BSCL2 gene underlie human type 2 Berardinelli-Seip Congenital Lipodystrophy (BSCL2) disease. Global Bscl2-/- mice recapitulate human BSCL2 lipodystrophy and develop insulin resistance and hypertrophic cardiomyopathy. The pathological mechanisms underlying the development of lipodystrophy and cardiomyopathy in BSCL2 are controversial. Here we report that Bscl2-/- mice develop cardiac hypertrophy due to increased basal IGF1 receptor (IGF1R)-mediated PI3K/AKT signaling. Bscl2-/- hearts exhibited increased adipose triglyceride lipase (ATGL) protein stability and expression causing drastic reduction of glycerolipids. Excessive fatty acid oxidation was overt in Bscl2-/- hearts, partially attributing to the hyperacetylation of cardiac mitochondrial proteins. Intriguingly, pharmacological inhibition or genetic inactivation of ATGL could rescue adipocyte differentiation and lipodystrophy in Bscl2-/- cells and mice. Restoring a small portion of fat mass by ATGL partial deletion in Bscl2-/- mice not only reversed the systemic insulin resistance, but also ameliorated cardiac protein hyperacetylation, normalized cardiac substrate metabolism and improved contractile function. Collectively, our study uncovers novel pathways underlying lipodystrophy-induced cardiac hypertrophy and metabolic remodeling and pinpoints ATGL as a downstream target of BSCL2 in regulating the development of lipodystrophy and its associated cardiomyopathy.
Indexed as
Identifiers
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.