ReviewPhilosophical transactions of the Royal Society of London. Series B, Biological sciences2003
Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders.
Review in Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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.
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Who cites it
19 citing papers in PubMed, 64 citations in OpenAlex.
- In Planta Preliminary Screening of ER Glycoprotein Folding Quality Control (ERQC) Modulators.International journal of molecular sciences · 2018Article
- Pharmacotherapy of Gaucher Disease: Current and Future Options.P & T : a peer-reviewed journal for formulary management · 2018Article
- Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders.International journal of molecular sciences · 2016Review
- Genetics and metabolic cardiomyopathies.Herz · 2012Review
- Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy.Molecular genetics and metabolism · 2012Article
- Assessment of partially deoxygenated deoxynojirimycin derivatives as glucosylceramide synthase inhibitors.ACS medicinal chemistry letters · 2011Article
- Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.Molecular genetics and metabolism · 2008Article
- Animal models for mucopolysaccharidosis disorders and their clinical relevance.Acta paediatrica (Oslo, Norway : 1992) · 2007Review
- Cell biology of membrane trafficking in human disease.International review of cytology · 2006Review
- Assessing the severity of the small inframe deletion mutation in the alpha-subunit of beta-hexosaminidase A found in the Turkish population by reproducing it in the more stable beta-subunit.Journal of inherited metabolic disease · 2004Article
- Endocytic trafficking of glycosphingolipids in sphingolipid storage diseases.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Review
- A historical perspective of the glycosphingolipids and sphingolipidoses.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Article
- Future perspectives for glycolipid research in medicine.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Review
- Gaucher disease and the clinical experience with substrate reduction therapy.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Review
- Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Review
- Substrate reduction therapy in mouse models of the glycosphingolipidoses.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Review
- Neurobiology and cellular pathogenesis of glycolipid storage diseases.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Review
- Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Review
- New biotechnological and nanomedicine strategies for treatment of lysosomal storage disorders.Wiley interdisciplinary reviews. Nanomedicine and nanobiotechnologyReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycosphingolipid (GSL) lysosomal storage disorders are a small but challenging group of human diseases to treat. Although these disorders appear to be monogenic in origin, where the catalytic activity of enzymes in GSL catabolism is impaired, the clinical presentation and severity of disease are heterogeneous. Present attitudes to treatment demand individual therapeutics designed to match the specific disease-related gene defect; this is an acceptable approach for those diseases with high frequency, but it lacks viability for extremely rare conditions. An alternative therapeutic approach termed 'substrate deprivation' or 'substrate reduction therapy' (SRT) aims to balance cellular GSL biosynthesis with the impairment in catalytic activity seen in lysosomal storage disorders. The development of N-alkylated iminosugars that have inhibitory activity against the first enzyme in the pathway for glucosylating sphingolipid in eukaryotic cells, ceramide-specific glucosyltransferase, offers a generic therapeutic for the treatment of all glucosphingolipidoses. The successful use of N-alkylated iminosugars to establish SRT as an alternative therapeutic strategy has been demonstrated in in vitro, in vivo and in clinical trials for type 1 Gaucher disease. The implications of these studies and the prospects of improvement to the design of iminosugar compounds for treating Gaucher and other GSL lysosomal storage disorders will be discussed.
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