Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease - Wikidata - awgldk - TriplyDB

Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease

Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease

http://www.wikidata.org/entity/Q41886566

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Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies Glucocerebrosidase is shaking up the synucleinopathies The sphingolipid salvage pathway in ceramide metabolism and signaling Large animal models of rare genetic disorders: sheep as phenotypically relevant models of human genetic disease Immunological cells and functions in Gaucher disease The role of saposin C in Gaucher disease In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice.Murine models of acute neuronopathic Gaucher disease.Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data.Effective cell and gene therapy in a murine model of Gaucher disease.Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient mice.Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model.Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse Global gene expression profile progression in Gaucher disease mouse models Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice 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.Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse.Multi-system disorders of glycosphingolipid and ganglioside metabolism Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa.ELIGLUSTAT TARTRATE: Glucosylceramide Synthase Inhibitor Treatment of Type 1 Gaucher Disease.Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds.Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease A simple methodology to assess endolysosomal protease activity involved in antigen processing in human primary cells.Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity Ubiquitous transgene expression of the glucosylceramide-synthesizing enzyme accelerates glucosylceramide accumulation and storage cells in a Gaucher disease mouse model.Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology.Activation of p38 Mitogen-Activated Protein Kinase in Gaucher's Disease Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease.Gene therapy for lysosomal storage diseases (LSDs) in large animal models.Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease.Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease.Impact of sphingomyelin synthase 1 deficiency on sphingolipid metabolism and atherosclerosis in mice.Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model

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Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease

http://www.wikidata.org/entity/Q41886566

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2003年論文

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2003年论文

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2003年论文

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Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease

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Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease

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The American Journal of Pathology

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Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease

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Brian Quinn

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David Witte

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Gregory A Grabowski

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You-Hai Xu

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P2860

Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene

Inducible gene targeting in mice using the Cre/lox system

Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure

Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease.

Correction of murine mucopolysaccharidosis VII by a human beta-glucuronidase transgene

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

Glyceraldehyde-3-phosphate dehydrogenase mRNA is a major interleukin 2-induced transcript in a cloned T-helper lymphocyte.

Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences

Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage.

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2093-2101

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1892407

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