ArticleJournal of inherited metabolic disease1998
Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype.
Article in Journal of inherited metabolic disease, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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.
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Who cites it
24 citing papers in PubMed.
- Oxy- and Phytosterols as Biomarkers: Current Status and Future Perspectives.Advances in experimental medicine and biology · 2024Article
- Metabolic Alteration Analysis of Steroid Hormones in Niemann-Pick Disease Type C Model Cell Using Liquid Chromatography/Tandem Mass Spectrometry.International journal of molecular sciences · 2022Article
- Searching, Structural Determination, and Diagnostic Performance Evaluation of Biomarker Molecules for Niemann-Pick Disease Type C Using Liquid Chromatography/Tandem Mass Spectrometry.Mass spectrometry (Tokyo, Japan) · 2022Review
- Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.Molecular genetics and metabolism · 2020Article
- Glycoprotein Non-Metastatic Protein B: An Emerging Biomarker for Lysosomal Dysfunction in Macrophages.International journal of molecular sciences · 2018Review
- Mass spectrometry imaging of lipids: untargeted consensus spectra reveal spatial distributions in Niemann-Pick disease type C1.Journal of lipid research · 2018Article
- FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2017Article
- Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.FEBS letters · 2016Article
- Development of a bile acid-based newborn screen for Niemann-Pick disease type C.Science translational medicine · 2016Article
- Diagnostic workup and management of patients with suspected Niemann-Pick type C disease.Therapeutic advances in neurological disorders · 2016Review
- Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.Journal of lipid research · 2015Article
- Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann-Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis.Molecular & cellular proteomics : MCP · 2015Article
- Genetic and laboratory diagnostic approach in Niemann Pick disease type C.Journal of neurology · 2014Review
- Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease.Journal of lipid research · 2014Article
- Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling.Journal of lipid research · 2013Article
- Oxidative stress: a pathogenic mechanism for Niemann-Pick type C disease.Oxidative medicine and cellular longevity · 2012Review
- A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.Journal of lipid research · 2011Article
- Lysosomal lipid storage diseases.Cold Spring Harbor perspectives in biology · 2011Review
- Alteration of gene expression profile in Niemann-Pick type C mice correlates with tissue damage and oxidative stress.PloS one · 2011Article
- Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease.Science translational medicine · 2010Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
Niemann-Pick disease type C (NP-C) is a rare genetic disorder characterized by progressive neurodegeneration, frequent developmental delay and early death. Tissues of affected individuals accumulate large quantities of free cholesterol in lysosomes. Because cytotoxic oxygenated derivatives of cholesterol are known to form readily when cholesterol concentrations are elevated, we searched for these compounds in liver, kidney, spleen and brain from mice with the NP-C phenotype. In order of abundance, we identified 7 alpha- and 7 beta-hydroxycholesterol, 5 alpha, 6 alpha-epoxycholestan-3 beta-ol, 4 beta-hydroxycholesterol, cholest-4-en-3 beta, 7 alpha-diol and cholest-4-en-3 beta, 6 beta-diol in most tissue samples. Cholesterol concentrations in affected mice were increased 3-fold in kidney and 7- to 8-fold in spleen and liver compared to controls (all p < 0.001) but were unchanged in brain. Although oxysterol levels were markedly elevated in nonbrain tissue, the oxysterol and cholesterol concentrations increased proportionally so that oxysterols expressed as percentage of total sterols were the same for all animals (0.34 +/- 0.19% averaged over all organs in affected animals vs 0.40 +/- 0.42% in control mice). In contrast to peripheral tissue, we could not detect any increase in either absolute or relative oxysterol levels in the brains of affected and control mice (49 +/- 61 vs 53 +/- 43 micrograms/g wet weight and 0.45 +/- 0.52 vs 0.47 +/- 0.37%, respectively). Thus, brain sterols are normal in NP-C mice and it is unlikely that an accumulation of cytotoxic oxygenated derivatives of cholesterol could account for the progressive neuropathology seen in the disease.
Indexed as
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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.