ArticleMuscle & nerve2020
MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy.
Article in Muscle & nerve, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 13 citations in OpenAlex.
- Delving into the clinical and genetic spectrum of NLSDM: A case study.Journal of neuromuscular diseases · 2026Article
- Viscosol Treatment Ameliorates Insulin-Mediated Regulation of Dyslipidemia, Hepatic Steatosis, and Lipid Metabolism by Targeting PTP1B in Type-2 Diabetic Mice Model.International journal of endocrinology · 2024Article
- The 2022 On-site Padua Days on Muscle and Mobility Medicine hosts the University of Florida Institute of Myology and the Wellstone Center, March 30 - April 3, 2022 at the University of Padua and Thermae of Euganean Hills, Padua, Italy: The collection of abstracts.European journal of translational myology · 2022Article
- LGMD D2 TNPO3-Related: From Clinical Spectrum to Pathogenetic Mechanism.Frontiers in neurology · 2022Review
- Adipose Triglyceride Lipase in Hepatic Physiology and Pathophysiology.Biomolecules · 2021Review
- Morphological study of TNPO3 and SRSF1 interaction during myogenesis by combining confocal, structured illumination and electron microscopy analysis.Molecular and cellular biochemistry · 2021Article
- Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies.Genes · 2021Article
- Roles of MicroRNAs in Glucose and Lipid Metabolism in the Heart.Frontiers in cardiovascular medicine · 2021Review
- MiRNAs, Myostatin, and Muscle MRI Imaging as Biomarkers of Clinical Features in Becker Muscular Dystrophy.Diagnostics (Basel, Switzerland) · 2020Article
- Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients.European journal of translational myology · 2020Article
- MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy.Muscle & nerve · 2020Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeutral lipid storage disease with myopathy (NLSDM) is a rare lipid metabolism disorder. In this study, we evaluated some circulating miRNAs levels in serum samples and the MRI of three affected siblings.
methodsThree members of one NLSDM family were identified: two brothers and one sister. Muscles of lower and right upper extremities were studied by MRI. Expression profile of miRNAs, obtained from serum samples, was detected using qRT-PCR.
resultsTwo brothers presented with progressive skeletal myopathy, while the sister had severe hepatosteatosis and diabetes. NLSDM patients showed a significant increase of muscle-specific miRNAs expression compared with healthy subjects. We found a correlation between hepatic damage and elevation of miRNAs expression profile of liver origin.
conclusionsThe dysregulation of miRNAs might represent an indicator of skeletal and hepatic damage and it might be useful to monitor the progression of NLSDM.
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