Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
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Molecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370SThe iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanismsImmunological cells and functions in Gaucher diseaseThe role of saposin C in Gaucher diseaseMolecular mechanisms of disease-causing missense mutationsProduction of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell systemCrystal structures of complexes of N-butyl- and N-nonyl-deoxynojirimycin bound to acid beta-glucosidase: insights into the mechanism of chemical chaperone action in Gaucher diseaseAcid beta-glucosidase: insights from structural analysis and relevance to Gaucher disease therapyEffects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and StabilityBinding of 3,4,5,6-Tetrahydroxyazepanes to the Acid-β-glucosidase Active Site: Implications for Pharmacological Chaperone Design for Gaucher DiseaseDecreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.Mitochondrial dysfunction associated with glucocerebrosidase deficiencyPartial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasisA Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease.Small-molecule structure correctors target abnormal protein structure and function: structure corrector rescue of apolipoprotein E4-associated neuropathologyIdentification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.Detection of ligand binding hot spots on protein surfaces via fragment-based methods: application to DJ-1 and glucocerebrosidase.Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model.The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase.Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype.Imaging of enzyme replacement therapy using PETThe LIMP-2/SCARB2 binding motif on acid β-glucosidase: basic and applied implications for Gaucher disease and associated neurodegenerative diseases.X-ray and biochemical analysis of N370S mutant human acid β-glucosidase.Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher diseaseChapter 15: disease gene prioritization.Personalized biochemistry and biophysics.Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease.Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease.Association Between Progranulin and Gaucher Disease.Investigating the interaction of saposin C with POPS and POPC phospholipids: a solid-state NMR spectroscopic study.Molecular imaging of membrane interfaces reveals mode of beta-glucosidase activation by saposin C.Glucose-regulated protein 94 triage of mutant myocilin through endoplasmic reticulum-associated degradation subverts a more efficient autophagic clearance mechanism.Delivery of lysosomal enzymes for therapeutic use: glucocerebrosidase as an example.Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2.Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.Sphingolipids: the nexus between Gaucher disease and insulin resistance.A Guided Tour of the Structural Biology of Gaucher Disease: Acid-β-Glucosidase and Saposin C.Velaglucerase alfa in the treatment of Gaucher disease type 1Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.
P2860
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P2860
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
@en
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
@nl
type
label
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
@en
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
@nl
prefLabel
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
@en
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
@nl
P2093
P356
P1476
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
@en
P2093
Andrzej Kazimierczuk
Benjamin Liou
C Ronald Scott
Gregory A Grabowski
Rashmi S Hegde
P304
P356
10.1074/JBC.M511110200
P407
P577
2005-11-17T00:00:00Z