Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
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Inhibition of endoplasmic reticulum-associated degradation rescues native folding in loss of function protein misfolding diseasesSorting out the trash: the spatial nature of eukaryotic protein quality controlX-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher diseaseEffects 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 DiseaseMice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedureType 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.Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease.X-ray and biochemical analysis of N370S mutant human acid β-glucosidase.Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.Remodeling the proteostasis network to rescue glucocerebrosidase variants by inhibiting ER-associated degradation and enhancing ER folding.The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseasesPharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment.A Guided Tour of the Structural Biology of Gaucher Disease: Acid-β-Glucosidase and Saposin C.Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells.The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin CParticipation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease.Impact of oxidation on protein therapeutics: conformational dynamics of intact and oxidized acid-β-glucocerebrosidase at near-physiological pH.Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher diseaseGaucher disease: molecular screening of the glucocerebrosidase 1601G and 1601A alleles in Victoria, British Columbia, Canada.Paenibacillus sp. TS12 glucosylceramidase: kinetic studies of a novel sub-family of family 3 glycosidases and identification of the catalytic residues.ERdj3 is an endoplasmic reticulum degradation factor for mutant glucocerebrosidase variants linked to Gaucher's disease.The Enigmatic Role of GBA2 in Controlling Locomotor Function.Molecular mechanisms of α-synuclein and GBA1 in Parkinson's disease.Biochemical Characterization of the c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia
P2860
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P2860
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Analysis of human acid beta-gl ...... s and heterologous expression.
@en
type
label
Analysis of human acid beta-gl ...... s and heterologous expression.
@en
prefLabel
Analysis of human acid beta-gl ...... s and heterologous expression.
@en
P2093
P1476
Analysis of human acid beta-gl ...... is and heterologous expression
@en
P2093
Berg-Fussman A
Grabowski GA
Scheinker V
P304
P407
P577
1994-01-01T00:00:00Z