Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling
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Clinical Metabolomics: The New Metabolic Window for Inborn Errors of Metabolism Investigations in the Post-Genomic EraIntracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease.An update on the biology of sphingosine 1-phosphate receptors.Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrinDevelopment of targeted therapies for Parkinson's disease and related synucleinopathiesNeurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ.Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1)Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective studyA murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.Annotation of the human cerebrospinal fluid lipidome using high resolution mass spectrometry and a dedicated data processing workflow.A Diet Rich in Medium-Chain Fatty Acids Improves Systolic Function and Alters the Lipidomic Profile in Patients With Type 2 Diabetes: A Pilot Study.Cerebrospinal Fluid Calbindin D Concentration as a Biomarker of Cerebellar Disease Progression in Niemann-Pick Type C1 Disease.The potential of histone deacetylase inhibitors in Niemann - Pick type C disease.Box C/D small nucleolar RNA (snoRNA) U60 regulates intracellular cholesterol trafficking.Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease.New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.Telocytes: a potential defender in the spleen of Npc1 mutant mice.Treatment of Niemann--pick type C disease by histone deacetylase inhibitors.Complex lipid trafficking in Niemann-Pick disease type C.Lipidomic analysis of cerebrospinal fluid by mass spectrometry-based methods.NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.Crosstalk between sphingolipids and vitamin D3: potential role in the nervous system.Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.Lipidomic Evaluation of Feline Neurologic Disease after AAV Gene Therapy.Neuronal Cholesterol Accumulation Induced by Cyp46a1 Down-Regulation in Mouse Hippocampus Disrupts Brain Lipid HomeostasisMitochondrial remodeling in mice with cardiomyocyte-specific lipid overload.FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.Bariatric Surgery-Induced Cardiac and Lipidomic Changes in Obesity-Related Heart Failure with Preserved Ejection Fraction.Lipid biomarkers for the peroxisomal and lysosomal disorders: their formation, metabolism and measurement.Normalization of Hepatic Homeostasis in the Npc1nmf164 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat.The extending spectrum of NPC1-related human disorders: from Niemann-Pick C1 Disease to obesity.Regulation of Insulin Receptor Pathway and Glucose Metabolism by CD36 Signaling.Metabolomics: a challenge for detecting and monitoring inborn errors of metabolism
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Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 23 July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling
@en
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling.
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type
label
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling
@en
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling.
@nl
prefLabel
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling
@en
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling.
@nl
P2093
P2860
P356
P1476
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling
@en
P2093
Brett Tortelli
Charles Vite
Daniel S Ory
Forbes D Porter
Hideji Fujiwara
Jean E Schaffer
Jessica H Bagel
Jessie Zhang
Martin Fan
Nicole M Yanjanin
P2860
P304
P356
10.1194/JLR.M040618
P577
2013-07-23T00:00:00Z