ArticleInternational journal of molecular sciences2019
Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C.
Article in International journal of molecular sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).Orphanet journal of rare diseases · 2023Guideline
- Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.Journal of inherited metabolic disease · 2021Trial
- Contradictory Effects on Hepatocytes in ASMD.International journal of molecular sciences · 2026Review
- 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
- Don't Be Surprised When These Surprise You: Some Infrequently Studied Sphingoid Bases, Metabolites, and Factors That Should Be Kept in Mind During Sphingolipidomic Studies.International journal of molecular sciences · 2025Review
- Global and Targeted Metabolomics for Revealing Metabolomic Alteration in Niemann-Pick Disease Type C Model Cells.Metabolites · 2024Article
- Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.Antioxidants (Basel, Switzerland) · 2024Article
- Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.Journal of clinical medicine · 2024Review
- Recent Analytical Methodologies in Lipid Analysis.International journal of molecular sciences · 2024Review
- Determination of Choline-Containing Compounds in Rice Bran Fermented withMass spectrometry (Tokyo, Japan) · 2024Article
- Global Proteomics for Identifying the Alteration Pathway of Niemann-Pick Disease Type C Using Hepatic Cell Models.International journal of molecular sciences · 2023Article
- Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.Genes · 2023Review
- MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C.Biomedicines · 2023Review
- 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
- Impact of Intravenous Trehalose Administration in Patients with Niemann-Pick Disease Types A and B.Journal of clinical medicine · 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
- Advancing Diagnosis and Treatment of Niemann-Pick C disease through Biomarker Discovery.Exploration of neuroprotective therapy · 2021Article
- Understanding and Treating Niemann-Pick Type C Disease: Models Matter.International journal of molecular sciences · 2020Review
- Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry.International journal of molecular sciences · 2020Review
- New variants in Spanish Niemann-Pick type c disease patients.Molecular biology reports · 2020Article
Corrections and comments
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Authors and funding
21 authors at 9 institutions in 2 countries.
Funding
Abstract
Niemann-Pick disease type C (NPC) is an autosomal recessive disorder caused by the mutation of cholesterol-transporting proteins. In addition, early treatment is important for good prognosis of this disease because of the progressive neurodegeneration. However, the diagnosis of this disease is difficult due to a variety of clinical spectrum. Lysosphingomyelin-509, which is one of the most useful biomarkers for NPC, was applied for the rapid and easy detection of NPC. The fact that its chemical structure was unknown until recently implicates the unrevealed pathophysiology and molecular mechanisms of NPC. In this study, we aimed to elucidate the structure of lysosphingomyelin-509 by various mass spectrometric techniques. As our identification strategy, we adopted analytical and organic chemistry approaches to the serum of patients with NPC. Chemical derivatization and hydrogen abstraction dissociation-tandem mass spectrometry were used for the determination of function groups and partial structure, respectively. As a result, we revealed the exact structure of lysosphingomyelin-509 as
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Registered trials
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