ReviewJournal of applied genetics2007
Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases.
Review in Journal of applied genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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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.
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Who cites it
21 citing papers in PubMed, 62 citations in OpenAlex.
- Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: assessment of effects on cognitive functions and general status of patients.Medical science monitor : international medical journal of experimental and clinical research · 2011Trial
- Advances in Therapies for Mucopolysaccharidoses.Current issues in molecular biology · 2026Review
- Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders.Journal of inherited metabolic disease · 2025Review
- Neurological glycogen storage diseases and emerging therapeutics.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Unusual case of Juvenile Tay-Sachs disease.BMJ case reports · 2019Article
- New Approaches to Tay-Sachs Disease Therapy.Frontiers in physiology · 2018Review
- Lysosomal Re-acidification Prevents Lysosphingolipid-Induced Lysosomal Impairment and Cellular Toxicity.PLoS biology · 2016Article
- Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders.Diseases (Basel, Switzerland) · 2016Review
- Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders.International journal of molecular sciences · 2016Review
- Animal models of GM2 gangliosidosis: utility and limitations.The application of clinical genetics · 2016Review
- Prevalence rates of mucopolysaccharidoses in Poland.Journal of applied genetics · 2015Article
- Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease.Journal of inherited metabolic disease · 2014Article
- A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells.PloS one · 2013Article
- Synthetic genistein derivatives as modulators of glycosaminoglycan storage.Journal of translational medicine · 2012Article
- Glycosaminoglycan storage disorders: a review.Biochemistry research international · 2012Article
- Effects of flavonoids on glycosaminoglycan synthesis: implications for substrate reduction therapy in Sanfilippo disease and other mucopolysaccharidoses.Metabolic brain disease · 2011Article
- Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease.European journal of human genetics : EJHG · 2010Article
- Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones.Journal of inherited metabolic disease · 2010Article
- Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway.Journal of biomedical science · 2009Article
- Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients.Current therapeutic research, clinical and experimental · 2008Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysosomal storage diseases are a group of disorders caused by defects in enzymes responsible for degradation of particular compounds in lysosomes. In most cases, these diseases are fatal, and until recently no treatment was available. Introduction of enzyme replacement therapy was a breakthrough in the treatment of some of the diseases. However, while this therapy is effective in reduction of many somatic symptoms, its efficacy in the treatment of the central nervous system is negligible, if any, mainly because of problems with crossing the blood-brain-barrier by intravenously administered enzyme molecules. On the other hand, there are many lysosomal storage diseases in which the central nervous system is affected. Results of very recent studies indicate that in at least some cases, another type of therapy, called substrate deprivation therapy (or substrate reduction therapy) may be effective in the treatment of neuronopathic forms of lysosomal storage diseases. This therapy, based on inhibition of synthesis of the compounds that cannot be degraded in cells of the patients, has been shown to be effective in several animal models of various diseases, and recent reports demonstrate its efficacy in the treatment of patients suffering from Niemann-Pick C disease and Sanfilippo disease.
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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.