Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.
about
Niemann-Pick C disease gene mutations and age-related neurodegenerative disordersEffects of miglustat treatment in a patient affected by an atypical form of Tangier diseaseA sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data setsTargeted next-generation sequencing to diagnose disorders of HDL cholesterol.Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann-Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis.Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicatorsAssessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational studyVisualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O.Genetics of cholesterol efflux.Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis.NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.Niemann-Pick type C2 deficiency impairs autophagy-lysosomal activity, mitochondrial function, and TLR signaling in adipocytes.Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarksReduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.The extending spectrum of NPC1-related human disorders: from Niemann-Pick C1 Disease to obesity.SNX14 mutations affect endoplasmic reticulum associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD
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P2860
Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Niemann-Pick Type C disease: c ...... lysosomal cholesterol storage.
@ast
Niemann-Pick Type C disease: c ...... lysosomal cholesterol storage.
@en
type
label
Niemann-Pick Type C disease: c ...... lysosomal cholesterol storage.
@ast
Niemann-Pick Type C disease: c ...... lysosomal cholesterol storage.
@en
prefLabel
Niemann-Pick Type C disease: c ...... lysosomal cholesterol storage.
@ast
Niemann-Pick Type C disease: c ...... lysosomal cholesterol storage.
@en
P2093
P2860
P356
P1476
Niemann-Pick Type C disease: c ...... lysosomal cholesterol storage.
@en
P2093
Carolina Tängemo
Dominik Weber
Heiko Runz
Susanne Theiss
P2860
P304
P356
10.1194/JLR.P013524
P50
P577
2011-01-17T00:00:00Z