Critical role for glycosphingolipids in Niemann-Pick disease type C.
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Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progressionNiemann-Pick disease type CRegulation of sterol transport between membranes and NPC22-hydroxypropyl-beta-cyclodextrin raises hearing threshold in normal cats and in cats with Niemann-Pick type C diseaseThe pathogenesis of Niemann-Pick type C disease: a role for autophagy?Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IVLess Is More: Substrate Reduction Therapy for Lysosomal Storage DisordersDiagnostic workup and management of patients with suspected Niemann-Pick type C diseaseCollaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 diseaseReducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C MiceMiglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC DiseaseMutagenesis of the putative sterol-sensing domain of yeast Niemann Pick C-related protein reveals a primordial role in subcellular sphingolipid distribution.Developing therapeutic approaches for metachromatic leukodystrophyProtein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 diseaseAccumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transportDefective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C DiseaseFostering collaborative research for rare genetic disease: the example of niemann-pick type C diseaseGenetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transportClinical, electrophysiological, and serum biochemical measures of progressive neurological and hepatic dysfunction in feline Niemann-Pick type C disease.Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease.Reduced Myelin Water in the White Matter Tracts of Patients with Niemann-Pick Disease Type C.Cellular effects of deoxynojirimycin analogues: uptake, retention and inhibition of glycosphingolipid biosynthesis.Identification of a pharmaceutical compound that partially corrects the Niemann-Pick C phenotype in cultured cells.Automated microscopy screening for compounds that partially revert cholesterol accumulation in Niemann-Pick C cells.Gastrointestinal disturbances and their management in miglustat-treated patients.Miglustat: a review of its use in Niemann-Pick disease type C.Cholesterol Perturbation in Mice Results in p53 Degradation and Axonal Pathology through p38 MAPK and Mdm2 Activation.Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type CThe National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.Analytical Characterization of Methyl-β-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells.Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrinTherapeutic potential of cyclodextrins in the treatment of Niemann-Pick type C disease.Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease.Oxidative stress in Niemann-Pick disease, type CEffects of miglustat treatment in a patient affected by an atypical form of Tangier diseaseCholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1)Niemann-Pick type C disease and intracellular cholesterol trafficking.[International Children's Day]Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses.Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C.
P2860
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P2860
Critical role for glycosphingolipids in Niemann-Pick disease type C.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Critical role for glycosphingolipids in Niemann-Pick disease type C.
@en
Critical role for glycosphingolipids in Niemann-Pick disease type C.
@nl
type
label
Critical role for glycosphingolipids in Niemann-Pick disease type C.
@en
Critical role for glycosphingolipids in Niemann-Pick disease type C.
@nl
prefLabel
Critical role for glycosphingolipids in Niemann-Pick disease type C.
@en
Critical role for glycosphingolipids in Niemann-Pick disease type C.
@nl
P2093
P1433
P1476
Critical role for glycosphingolipids in Niemann-Pick disease type C.
@en
P2093
P304
P356
10.1016/S0960-9822(01)00396-7
P407
P577
2001-08-01T00:00:00Z