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「glucocerebrosidase」の検索結果

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In-situ visualization of glucocerebrosidase in human skin tissue: Zymography vs activity-based probe labeling.

A nucleotide substitution in exon 8 of the glucosylceramidase beta gene is associated with Gaucher disease in sheep.

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p.

Reduced cerebral vascularisation in experimental neuronopathic Gaucher disease.

The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice.

Frequency of GBA variants in autopsy-proven multiple system atrophy.

GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies.

Progranulin acts as a shared chaperone and regulates multiple lysosomal enzymes.

A Fluorescence Polarization Activity-Based Protein Profiling Assay in the Discovery of Potent, Selective Inhibitors for Human Non-lysosomal Glucosylceramidase.

Death by over-eating: The Gaucher Disease associated gene GBA1, identified in a screen for mediators of autophagic cell death, is necessary for developmental cell death in Drosophila midgut.

Mitochondrial Dysfunction in Lysosomal Storage Disorders.

The Spectrum of Neurological Manifestations Associated with Gaucher Disease.

Generation of a homozygous GBA deletion human embryonic stem cell line.

Insights into the structural biology of Gaucher disease.

Correction: Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity.

Serum lipid alterations in GBA-associated Parkinson's disease.

Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease.

Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials.

Glucosylsphingosine promotes α-synuclein pathology in mutant GBA-associated Parkinson's disease.

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.

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