ArticleThe Journal of clinical investigation1999
A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder.
Article in The Journal of clinical investigation, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers.
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Who cites it
68 citing papers in PubMed, 159 citations in OpenAlex.
- B4Galnt1 Deficiency Reverses Severe Neurological Symptoms in a Mouse Model of Tay-Sachs Disease.Neuromolecular medicine · 2026Article
- Gene Therapy Targeting GD3 Synthase Protects Against MPTP-Induced Parkinsonism and Executive Dysfunction.The European journal of neuroscience · 2025Article
- Therapeutic developments for neurodegenerative GM1 gangliosidosis.Frontiers in neuroscience · 2024Review
- Gangliosides as Siglec ligands.Glycoconjugate journal · 2023Review
- Ganglioside lipidomics of CNS myelination using direct infusion shotgun mass spectrometry.iScience · 2022Article
- Sphingolipid lysosomal storage diseases: from bench to bedside.Lipids in health and disease · 2021Review
- Parkinson's disease recovery by GM1 oligosaccharide treatment in the B4galnt1Scientific reports · 2019Article
- Substrate Reduction Therapy for Sandhoff Disease through Inhibition of Glucosylceramide Synthase Activity.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Article
- Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation.Journal of lipid research · 2018Article
- Generation and characterization of a IgG monoclonal antibody specific for GM3 (NeuGc) ganglioside by immunizing β3Gn-T5 knockout mice.Scientific reports · 2018Article
- Structural basis for the unique ganglioside and cell membrane recognition mechanism of botulinum neurotoxin DC.Nature communications · 2017Article
- Targeted deletion of GD3 synthase protects against MPTP-induced neurodegeneration.Genes, brain, and behavior · 2017Article
- Dissecting the Role of Anti-ganglioside Antibodies in Guillain-Barré Syndrome: an Animal Model Approach.Molecular neurobiology · 2016Review
- Gangliosides of the Vertebrate Nervous System.Journal of molecular biology · 2016Review
- Fluorescently-tagged anti-ganglioside antibody selectively identifies peripheral nerve in living animals.Scientific reports · 2015Article
- Ganglioside accumulation in activated glia in the developing brain: comparison between WT and GalNAcT KO mice.Journal of lipid research · 2015Article
- Anti-Ganglioside Antibodies Induce Nodal and Axonal Injury via Fcγ Receptor-Mediated Inflammation.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
- Unraveling the association between mRNA expressions and mutant phenotypes in a genome-wide assessment of mice.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- The consequences of genetic and pharmacologic reduction in sphingolipid synthesis.Journal of inherited metabolic disease · 2015Review
- A role for Galgt1 in skeletal muscle regeneration.Skeletal muscle · 2015Article
8 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
Abstract
Inherited defects in the degradation of glycosphingolipids (GSLs) cause a group of severe diseases known as GSL storage disorders. There are currently no effective treatments for the majority of these disorders. We have explored a new treatment paradigm, substrate deprivation therapy, by constructing a genetic model in mice. Sandhoff's disease mice, which abnormally accumulate GSLs, were bred with mice that were blocked in their synthesis of GSLs. The mice with simultaneous defects in GSL synthesis and degradation no longer accumulated GSLs, had improved neurologic function, and had a much longer life span. However, these mice eventually developed a late-onset neurologic disease because of accumulation of another class of substrate, oligosaccharides. The results support the validity of the substrate deprivation therapy and also highlight some limitations.
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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.