ReviewNeuromolecular medicine2010
Pathology and current treatment of neurodegenerative sphingolipidoses.
Review in Neuromolecular medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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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
16 citing papers in PubMed, 29 citations in OpenAlex.
- Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II.International journal of molecular sciences · 2025Article
- Temporal Alterations of Sphingolipids in Optic Nerves After Indirect Traumatic Optic Neuropathy.Ophthalmology science · 2023Article
- Zebra-Sphinx: Modeling Sphingolipidoses in Zebrafish.International journal of molecular sciences · 2023Review
- Neurological Consequences of Sphingosine Phosphate Lyase Insufficiency.Frontiers in cellular neuroscience · 2022Review
- Article
- Sphingolipid lysosomal storage diseases: from bench to bedside.Lipids in health and disease · 2021Review
- Optic Nerve Lipidomics Reveal Impaired Glucosylsphingosine Lipids Pathway in Glaucoma.Investigative ophthalmology & visual science · 2019Article
- Sphingolipids in neurodegeneration (with focus on ceramide and S1P).Advances in biological regulation · 2018Review
- Characterization ofDisease models & mechanisms · 2017Article
- Azasugar inhibitors as pharmacological chaperones for Krabbe disease.Chemical science · 2015Article
- The pleiotropic roles of sphingolipid signaling in autophagy.Cell death & disease · 2014Review
- Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases.Metabolic brain disease · 2014Review
- Ceramide kinase-like (CERKL) interacts with neuronal calcium sensor proteins in the retina in a cation-dependent manner.Investigative ophthalmology & visual science · 2012Article
- Autophagy in lysosomal storage disorders.Autophagy · 2012Review
- Decreased expression of lysosomal alpha-galactosiase A gene in sporadic Parkinson's disease.Neurochemical research · 2011Article
- Autophagy failure in Alzheimer's disease--locating the primary defect.Neurobiology of disease · 2011Review
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
Sphingolipidoses constitute a large subgroup of lysosomal storage disorders (LSDs). Many of them are associated with a progressive neurodegeneration. As is the case for LSDs in general, most sphingolipidoses are caused by deficiencies in lysosomal hydrolases. However, accumulation of sphingolipids can also result from deficiencies in proteins involved in the transport or posttranslational modification of lysosomal enzymes, transport of lipids, or lysosomal membrane proteins required for transport of lysosomal degradation end products. The accumulation of sphingolipids in the lysosome together with secondary changes in the concentration and localization of other lipids may cause trafficking defects of membrane lipids and proteins, affect calcium homeostasis, induce the unfolded protein response, activate apoptotic cascades, and affect various signal transduction pathways. To what extent, however, these changes contribute to the pathogenesis of the diseases is not fully understood. Currently, there is no cure for sphingolipidoses. Therapies like enzyme replacement, pharmacological chaperone, and substrate reduction therapy, which have been shown to be efficient in non-neuronopathic LSDs, are currently evaluated in clinical trials of neuronopathic sphingolipidoses. In the future, neural stem cell therapy and gene therapy may become an option for these disorders.
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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.