Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
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Enzyme replacement and substrate reduction therapy for Gaucher diseaseGaucher disease: isolation and comparison of normal and mutant glucocerebrosidase from human spleen tissueA glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorderImiglucerase in the treatment of Gaucher disease: a history and perspectiveThe iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanismsClinical manifestations and management of Gaucher diseaseDecreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapyChimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's diseaseMurine models of acute neuronopathic Gaucher disease.The saccadic and neurological deficits in type 3 Gaucher disease.Effective cell and gene therapy in a murine model of Gaucher disease.Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy.Long-term response in biochemical markers of bone turnover during enzyme replacement therapy in a case-series of patients with Gaucher disease type I from Northern Greece.The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase.Cell migration and chimerism after whole-organ transplantation: the basis of graft acceptanceSphingolipidoses.The LIMP-2/SCARB2 binding motif on acid β-glucosidase: basic and applied implications for Gaucher disease and associated neurodegenerative diseases.Benefits from unearthing "a biochemical Rosetta Stone".X-ray and biochemical analysis of N370S mutant human acid β-glucosidase.Expression of human Gaucher disease gene GBA generates neurodevelopmental defects and ER stress in Drosophila eyeBiomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathyBiochemistry of glycosphingolipid storage disorders: implications for therapeutic interventionEnzyme replacement therapy: conception, chaos and culmination.Identification of potent and selective glucosylceramide synthase inhibitors from a library of N-alkylated iminosugars.Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease.The genetic mismanagement of complex lipid metabolism.Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher diseaseSynthesis and Evaluation of Hybrid Structures Composed of Two Glucosylceramide Synthase Inhibitors.Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase.Defective Self-Renewal and Differentiation of GBA-Deficient Neural Stem Cells Can Be Restored By Macrophage Colony-Stimulating Factor.Investigations on therapeutic glucocerebrosidases through paired detection with fluorescent activity-based probes.The metabolism of amino acids, peptides, and disulfides in lysosomes of fibroblasts cultured from normal individuals and those with cystinosis.Successful screening for Gaucher disease in a high-prevalence population in tabuleiro do Norte (northeastern Brazil): a cross-sectional studyImproved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapyPharmacologic chaperoning as a strategy to treat Gaucher disease.Home therapy for lysosomal storage disorders.Upregulation of proinflammatory cytokines in the fetal brain of the Gaucher mouse.Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones.
P2860
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P2860
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
description
1966 nî lūn-bûn
@nan
1966 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1966 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1966年の論文
@ja
1966年論文
@yue
1966年論文
@zh-hant
1966年論文
@zh-hk
1966年論文
@zh-mo
1966年論文
@zh-tw
1966年论文
@wuu
name
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
@ast
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
@en
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
@nl
type
label
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
@ast
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
@en
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
@nl
prefLabel
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
@ast
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
@en
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
@nl
P2093
P2860
P356
P1476
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
@en
P2093
P2860
P304
P356
10.1172/JCI105417
P407
P577
1966-07-01T00:00:00Z