Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease.
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Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaGlucocerebrosidase is shaking up the synucleinopathiesStructural snapshots illustrate the catalytic cycle of β-galactocerebrosidase, the defective enzyme in Krabbe disease.Tool compounds robustly increase turnover of an artificial substrate by glucocerebrosidase in human brain lysatesGaucher iPSC-derived macrophages produce elevated levels of inflammatory mediators and serve as a new platform for therapeutic development.Emerging insights into the mechanistic link between α-synuclein and glucocerebrosidase in Parkinson's diseaseDevelopment of targeted therapies for Parkinson's disease and related synucleinopathiesGaucher's disease and cancer: a sphingolipid perspectiveDevelopment of inhibitors as research tools for carbohydrate-processing enzymes.Enzyme replacement therapy and beyond-in memoriam Roscoe O. Brady, M.D. (1923-2016).Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutationSubstrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher diseasePharmacological chaperone therapy for lysosomal storage diseases.A GCase chaperone improves motor function in a mouse model of synucleinopathy.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.Azasugar inhibitors as pharmacological chaperones for Krabbe diseaseInduced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher diseaseAmbroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.Glucocerebrosidase in the pathogenesis and treatment of Parkinson disease.Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models.A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment.Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease.Glucocerebrosidase inhibitors for the treatment of Gaucher disease.Glucocerebrosidase mutations and the pathogenesis of Parkinson disease.Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders.Recent advances and novel treatments for sphingolipidoses.Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.Therapeutic potential of autophagy-enhancing agents in Parkinson's disease.Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.Gaucher disease: Progress and ongoing challenges.The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.Glucocerebrosidase Mutations in Parkinson Disease.A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis.Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase.A systematic investigation of iminosugar click clusters as pharmacological chaperones for the treatment of Gaucher disease.A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response.Dermal fibroblasts from patients with Parkinson's disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations.Pharmacotherapy of Gaucher Disease: Current and Future Options.
P2860
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P2860
Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Ex vivo and in vivo effects of ...... ate levels in Gaucher disease.
@ast
Ex vivo and in vivo effects of ...... ate levels in Gaucher disease.
@en
type
label
Ex vivo and in vivo effects of ...... ate levels in Gaucher disease.
@ast
Ex vivo and in vivo effects of ...... ate levels in Gaucher disease.
@en
prefLabel
Ex vivo and in vivo effects of ...... ate levels in Gaucher disease.
@ast
Ex vivo and in vivo effects of ...... ate levels in Gaucher disease.
@en
P2093
P2860
P356
P1476
Ex vivo and in vivo effects of ...... ate levels in Gaucher disease.
@en
P2093
Benjamin Liou
Brian Quinn
Gregory A Grabowski
Kenneth D R Setchell
Rick Hamler
Wujuan Zhang
You-Hai Xu
P2860
P304
P356
10.1074/JBC.M111.280016
P407
P577
2011-12-13T00:00:00Z