about
The sensitivity of murine spermiogenesis to miglustat is a quantitative trait: a pharmacogenetic studyGlycosphingolipid synthesis requires FAPP2 transfer of glucosylceramideThe cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunctionMale germ cells require polyenoic sphingolipids with complex glycosylation for completion of meiosis: a link to ceramide synthase-3NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycinLysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseasesExpression of Ca²⁺-permeable two-pore channels rescues NAADP signalling in TPC-deficient cellsPrevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycinDefective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C DiseasePathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathwayInhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycinBiomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff diseaseCellular effects of deoxynojirimycin analogues: uptake, retention and inhibition of glycosphingolipid biosynthesis.Cellular effects of deoxynojirimycin analogues: inhibition of N-linked oligosaccharide processing and generation of free glucosylated oligosaccharidesCarbohydrate receptor depletion as an antimicrobial strategy for prevention of urinary tract infection.[Glycosphingolipids Gb3 and iGb3. In vivo roles in hemolytic-uremic syndrome and iNKT cell function].Purified TPC isoforms form NAADP receptors with distinct roles for Ca(2+) signaling and endolysosomal trafficking.Inhibition of β-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis.Common and uncommon pathogenic cascades in lysosomal storage diseasesEffects of miglustat treatment in a patient affected by an atypical form of Tangier diseaseA novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathologyMacroautophagy is not directly involved in the metabolism of amyloid precursor protein.Inhibition of glucosylceramide synthase does not reverse drug resistance in cancer cells.Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.The association of Shiga-like toxin with detergent-resistant membranes is modulated by glucosylceramide and is an essential requirement in the endoplasmic reticulum for a cytotoxic effectReversible infertility in male mice after oral administration of alkylated imino sugars: a nonhormonal approach to male contraception.Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders.Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses.Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses.N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis.Targeting glycosylation as a therapeutic approach.Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium.Therapeutic applications of imino sugars in lysosomal storage disorders.A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.Storage diseases: new insights into sphingolipid functions.Substrate reduction therapy in mouse models of the glycosphingolipidosesDiverse endogenous antigens for mouse NKT cells: self-antigens that are not glycosphingolipids.High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data setsImplications for invariant natural killer T cell ligands due to the restricted presence of isoglobotrihexosylceramide in mammalsNormal development and function of invariant natural killer T cells in mice with isoglobotrihexosylceramide (iGb3) deficiency.
P50
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P50
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hulumtuese
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հետազոտող
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Frances Platt
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Frances Platt
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Frances Platt
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Frances Platt
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Frances Platt
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Frances Platt
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Frances Platt
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Frances Platt
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Frances Platt
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Frances Platt
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Frances Platt
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Frances Platt
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Frances Platt
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Frances Platt
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F Platt
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Frances Platt
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Frances Platt
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Frances Platt
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Frances Platt
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Frances Platt
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Frances Platt
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Frances Platt
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P1006
P214
P1006
P106
P21
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P31
P496
0000-0001-7614-0403
P734
P735
P7859
lccn-n2004120378