ArticleJournal of lipid research2011
Altered vitamin E status in Niemann-Pick type C disease.
Article in Journal of lipid research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 38 citations in OpenAlex.
- Lipophagy in disease: signaling control, organelle communication, and therapeutic opportunities.Cell communication and signaling : CCS · 2026Review
- Scientific opinion on the tolerable upper intake level for vitamin E.EFSA journal. European Food Safety Authority · 2024Article
- Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease.International journal of molecular sciences · 2021Article
- RedEfish: Generation of the Polycistronic mScarlet: GSG-T2A: Ttpa Zebrafish Line.Antioxidants (Basel, Switzerland) · 2021Article
- Understanding and Treating Niemann-Pick Type C Disease: Models Matter.International journal of molecular sciences · 2020Review
- Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review.Journal of clinical medicine · 2020Review
- Vitamin E Metabolic Effects and Genetic Variants: A Challenge for Precision Nutrition in Obesity and Associated Disturbances.Nutrients · 2018Review
- Vitamin E and Alzheimer's Disease-Is It Time for Personalized Medicine?Antioxidants (Basel, Switzerland) · 2017Review
- Adenovirus Modulates Toll-Like Receptor 4 Signaling by Reprogramming ORP1L-VAP Protein Contacts for Cholesterol Transport from Endosomes to the Endoplasmic Reticulum.Journal of virology · 2017Article
- Vitamin E and Phosphoinositides Regulate the Intracellular Localization of the Hepatic α-Tocopherol Transfer Protein.The Journal of biological chemistry · 2016Article
- Drug Delivery Innovations for Enhancing the Anticancer Potential of Vitamin E Isoforms and Their Derivatives.BioMed research international · 2015Review
- Vitamin E dietary supplementation improves neurological symptoms and decreases c-Abl/p73 activation in Niemann-Pick C mice.Nutrients · 2014Article
- Natural forms of vitamin E: metabolism, antioxidant, and anti-inflammatory activities and their role in disease prevention and therapy.Free radical biology & medicine · 2014Review
- Adenovirus RIDα uncovers a novel pathway requiring ORP1L for lipid droplet formation independent of NPC1.Molecular biology of the cell · 2013Article
- Treatment of Niemann--pick type C disease by histone deacetylase inhibitors.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2013Review
- Vitamin E trafficking in neurologic health and disease.Annual review of nutrition · 2013Review
- Oxidative stress: a pathogenic mechanism for Niemann-Pick type C disease.Oxidative medicine and cellular longevity · 2012Review
- Alteration of gene expression profile in Niemann-Pick type C mice correlates with tissue damage and oxidative stress.PloS one · 2011Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
Abstract
Vitamin E (α-tocopherol) is the major lipid-soluble antioxidant in many species. Niemann-Pick type C (NPC) disease is a lysosomal storage disorder caused by mutations in the NPC1 or NPC2 gene, which regulates lipid transport through the endocytic pathway. NPC disease is characterized by massive intracellular accumulation of unesterified cholesterol and other lipids in lysosomal vesicles. We examined the roles that NPC1/2 proteins play in the intracellular trafficking of tocopherol. Reduction of NPC1 or NPC2 expression or function in cultured cells caused a marked lysosomal accumulation of vitamin E in cultured cells. In vivo, tocopherol significantly accumulated in murine Npc1-null and Npc2-null livers, Npc2-null cerebella, and Npc1-null cerebral cortices. Plasma tocopherol levels were within the normal range in Npc1-null and Npc2-null mice, and in plasma samples from human NPC patients. The binding affinity of tocopherol to the purified sterol-binding domain of NPC1 and to purified NPC2 was significantly weaker than that of cholesterol (measurements kindly performed by R. Infante, University of Texas Southwestern Medical Center, Dallas, TX). Taken together, our observations indicate that functionality of NPC1/2 proteins is necessary for proper bioavailability of vitamin E and that the NPC pathology might involve tissue-specific perturbations of vitamin E status.
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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.