ArticleRare diseases (Austin, Tex.)2015
Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C.
Article in Rare diseases (Austin, Tex.), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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
22 citing papers in PubMed, 33 citations in OpenAlex.
- Characterization of Cellular Alterations in a Novel NAGLU Enzyme-Deficient Cellular Model Generated from U-87MG Cell Line.Neurochemical research · 2026Article
- HGSNAT alleviates oxygen-glucose deprivation- induced endothelial injury by suppressing ER stress: implications for Moyamoya disease.Frontiers in molecular neuroscience · 2026Article
- Article
- Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.Biomolecules · 2025Review
- The rare disease burden: a multidimensional challenge.Acta biochimica Polonica · 2025Review
- Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy.Cell biochemistry and biophysics · 2023Article
- Article
- Article
- Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies.International journal of molecular sciences · 2022Review
- Biomolecular Mechanisms of Autoimmune Diseases and Their Relationship with the Resident Microbiota: Friend or Foe?Pathophysiology : the official journal of the International Society for Pathophysiology · 2022Review
- Insulin-inducible THRSP maintains mitochondrial function and regulates sphingolipid metabolism in human adipocytes.Molecular medicine (Cambridge, Mass.) · 2022Article
- In vitro facilitating role of polygonatum sibiricum polysaccharide in osteogenic differentiation of bone marrow mesenchymal stem cells from patients with multiple myeloma.Biotechnology letters · 2021Article
- Acacetin ameliorates insulin resistance in obesity mice through regulating Treg/Th17 balance via MiR-23b-3p/NEU1 Axis.BMC endocrine disorders · 2021Article
- Glycosaminoglycans: Carriers and Targets for Tailored Anti-Cancer Therapy.Biomolecules · 2021Review
- The rapidly evolving view of lysosomal storage diseases.EMBO molecular medicine · 2021Review
- Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review.Journal of clinical medicine · 2020Review
- Transcriptomic Changes Related to Cellular Processes with Particular Emphasis on Cell Activation in Lysosomal Storage Diseases from the Group of Mucopolysaccharidoses.International journal of molecular sciences · 2020Article
- Pathogenesis of Mucopolysaccharidoses, an Update.International journal of molecular sciences · 2020Review
- Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression.Journal of clinical medicine · 2020Review
- Underestimated Aspect of Mucopolysaccharidosis Pathogenesis: Global Changes in Cellular Processes Revealed by Transcriptomic Studies.International journal of molecular sciences · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
More than 30% of all lysosomal diseases are mucopolysaccharidoses, disorders affecting the enzymes needed for the stepwise degradation of glycosaminoglycans (mucopolysaccharides). Mucopolysaccharidosis type IIIC (MPS IIIC) is a severe neurologic disease caused by genetic deficiency of heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT). Through our studies, we have cloned the gene, identified molecular defects in MPS IIIC patients and most recently completed phenotypic characterization of the first animal model of the disease, a mouse with a germline inactivation of the Hgsnat gene.(1) The obtained data have led us to propose that Hgsnat deficiency and lysosomal accumulation of heparan sulfate in microglial cells followed by their activation and cytokine release result in mitochondrial dysfunction in the neurons causing their death which explains why MPS IIIC manifests primarily as a neurodegenerative disease. The goal of this addendum is to summarize data yielding new insights into the mechanism of MPS IIIC and promising novel therapeutic solutions for this and similar disorders.
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.