ArticleRNA biology2014
Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.
Article in RNA biology, 2014. 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
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Who cites it
26 citing papers in PubMed, 40 citations in OpenAlex.
- Expression Profiles of Exosomal miRNAs in Gaucher Patients and Their Association With Severity of Bone Involvement.Journal of inherited metabolic disease · 2025Article
- Insight into the Life Cycle of Enterovirus-A71.Viruses · 2025Review
- Tumor Suppressor and Oncogenic miRNA Expressions in Patients with Type I Gaucher Disease and Carriers.MicroRNA (Shariqah, United Arab Emirates) · 2025Article
- Stage-specific modulation of multinucleation, fusion, and resorption by the long non-coding RNA DLEU1 and miR-16 in human primary osteoclasts.Cell death & disease · 2024Article
- An Overview of Epigenetic Changes in the Parkinson's Disease Brain.International journal of molecular sciences · 2024Review
- Article
- The landscape of CRISPR/Cas9 for inborn errors of metabolism.Molecular genetics and metabolism · 2023Review
- Review
- Review
- Role of Non-Coding RNA in Neurological Complications Associated With Enterovirus 71.Frontiers in cellular and infection microbiology · 2022Review
- MiRNA Expression in Patients with Gaucher Disease Treated with Enzyme Replacement Therapy.Life (Basel, Switzerland) · 2020Article
- Review
- Glucocerebrosidase: Functions in and Beyond the Lysosome.Journal of clinical medicine · 2020Review
- Integrated Computational Analysis Highlights unique miRNA Signatures in the Subventricular Zone and Striatum of GM2 Gangliosidosis Animal Models.International journal of molecular sciences · 2019Article
- Dual Laplacian regularized matrix completion for microRNA-disease associations prediction.RNA biology · 2019Article
- Article
- Exploring genetic modifiers of Gaucher disease: The next horizon.Human mutation · 2018Review
- The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p.Scientific reports · 2017Article
- MicroRNAs in Parkinson's disease.Experimental brain research · 2017Review
- Role of miRNAs in human disease and inborn errors of metabolism.Journal of inherited metabolic disease · 2017Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
Abstract
Gaucher disease is an autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase. Although it is a monogenic disease, there is vast phenotypic heterogeneity, even among patients with the same genotype. MicroRNAs (miRNAs) are small non-coding RNAs involved in many biological processes and diseases. To determine whether miRNAs can affect glucocerebrosidase activity, we performed a screen of 875 different miRNA mimics. The screen was performed using Gaucher fibroblasts, and glucocerebrosidase activity was used as the initial outcome parameter. We found several miRNAs that either up- or down-regulated glucocerebrosidase activity. In follow-up assays, we confirmed that one specific miRNA (miR-127-5p) down-regulated both glucocerebrosidase activity and protein levels by down-regulation of LIMP-2, the receptor involved in proper trafficking of glucocerebrosidase from the endoplasmic reticulum to the lysosome. A conditioned media assay demonstrated that cells treated with this miRNA secreted glucocerebrosidase into the extracellular environment, supporting impaired LIMP-2 function. Two other miRNAs, miR-16-5p and miR-195-5p, were found to up-regulate glucocerebrosidase activity by greater than 40% and to enhance expression and protein levels of the enzyme. In conclusion, we show that miRNAs can alter glucocerebrosidase activity in patient cells, indicating that miRNAs can potentially act as modifiers in Gaucher disease.
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