ArticleJournal of inherited metabolic disease2020
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.
Article in Journal of inherited metabolic disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N-of-1 Trial with 21 months Clinical Observation.Neurology and therapy · 2026Article
- Assessing rare disease understanding: a novel disease readiness level framework.Orphanet journal of rare diseases · 2025Article
- ApoE4 requires lipidation enhancement to resolve cellular lipid and protein abnormalities following NPC1 inhibition.Scientific reports · 2025Article
- The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C.Biochemical Society transactions · 2023Review
- Glycosphingolipids are linked to elevated neurotransmission and neurodegeneration in a Drosophila model of Niemann Pick type C.Disease models & mechanisms · 2023Article
- Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease.Cells · 2022Article
- Lipid rafts as viral entry routes and immune platforms: A double-edged sword in SARS-CoV-2 infection?Biochimica et biophysica acta. Molecular and cell biology of lipids · 2022Review
- Acetyl-leucine slows disease progression in lysosomal storage disorders.Brain communications · 2021Article
- Defective platelet function in Niemann-Pick disease type C1.JIMD reports · 2020Article
- Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.Journal of inherited metabolic disease · 2020Article
- Beneficial Effects of Acetyl-DL-Leucine (ADLL) in a Mouse Model of Sandhoff Disease.Journal of clinical medicine · 2020Article
- Differential Effects of 2-Hydroxypropyl-Cyclodextrins on Lipid Accumulation inInternational journal of molecular sciences · 2020Article
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
Abstract
Niemann-Pick disease type C (NPC) and Tangier disease are genetically and clinically distinct rare inborn errors of metabolism. NPC is caused by defects in either NPC1 or NPC2; whereas Tangier disease is caused by a defect in ABCA1. Tangier disease is currently without therapy, whereas NPC can be treated with miglustat, a small molecule inhibitor of glycosphingolipid biosynthesis that slows the neurological course of the disease. When a Tangier disease patient was misdiagnosed with NPC and treated with miglustat, her symptoms improved. This prompted us to consider whether there is mechanistic convergence between these two apparently unrelated rare inherited metabolic diseases. In this study, we found that when ABCA1 is defective (Tangier disease) there is secondary inhibition of the NPC disease pathway, linking these two diseases at the level of cellular pathophysiology. In addition, this study further supports the hypothesis that miglustat, as well as other substrate reduction therapies, may be potential therapeutic agents for treating Tangier disease as fibroblasts from multiple Tangier patients were corrected by miglustat treatment.
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