Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.
about
Phorbol ester induces elevated oxidative activity and alkalization in a subset of lysosomes.X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher diseaseCrystal 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 therapyCrystal Structure of the Salmonella enterica Serovar Typhimurium Virulence Factor SrfJ, a Glycoside Hydrolase Family EnzymeTreatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy.A new archaeal beta-glycosidase from Sulfolobus solfataricus: seeding a novel retaining beta-glycan-specific glycoside hydrolase family along with the human non-lysosomal glucosylceramidase GBA2Selection of transduced CD34+ progenitors and enzymatic correction of cells from Gaucher patients, with bicistronic vectorsRole of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patientsGaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes.Retroviral-mediated transfer of the human glucocerebrosidase gene into cultured Gaucher bone marrow.SrfJ, a Salmonella type III secretion system effector regulated by PhoP, RcsB, and IolR.Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.Delivery of lysosomal enzymes for therapeutic use: glucocerebrosidase as an example.The pathophysiology of GD - current understanding and rationale for existing and emerging therapeutic approaches.Differential membrane interactions of saposins A and C: implications for the functional specificity.Recent advances in the development of synthetic chemical probes for glycosidase enzymes.Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood.Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance.Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.In vivo inhibition of beta-glucosidase and beta-mannosidase activity in rats by 2-deoxy-2-fluoro-beta-glycosyl fluorides and recovery of activity in vivo and in vitroTricyclic Antidepressants Promote Ceramide Accumulation to Regulate Collagen Production in Human Hepatic Stellate Cells.Optimal therapy in Gaucher diseaseAnalysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease.Human glucocerebrosidase catalyses transglucosylation between glucocerebroside and retinol.A novel GBA2 gene missense mutation in spastic ataxia.Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation.Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.
P2860
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P2860
Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 1990
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.
@en
Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.
@nl
type
label
Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.
@en
Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.
@nl
prefLabel
Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.
@en
Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.
@nl
P2093
P2860
P1476
Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.
@en
P2093
P2860
P304
P356
10.3109/10409239009090616
P577
1990-01-01T00:00:00Z