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「glucocerebrosidase」の検索結果

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Prediction of cognition in Parkinson's disease with a clinical-genetic score: a longitudinal analysis of nine cohorts.

DISCOVERY, VALIDATION AND OPTIMIZATION OF CEREBROSPINAL FLUID BIOMARKERS FOR USE IN PARKINSON'S DISEASE.

Glucocerebrosidase Mutations in Parkinson Disease.

A novel function for glucocerebrosidase as a regulator of sterylglucoside metabolism.

Thrombocytopenia and GBA gene mutation in a patient with adult type 1 Gaucher disease.

Signalome-wide RNAi screen identifies GBA1 as a positive mediator of autophagic cell death.

Altered expression of epidermal lipid bio-synthesis enzymes in atopic dermatitis skin is accompanied by changes in stratum corneum lipid composition.

Glucocerebrosidase mutations and neuropsychiatric phenotypes in Parkinson's disease and Lewy body dementias: Review and meta-analyses.

Parkinson disease in Gaucher disease.

Lipid composition of microdomains is altered in neuronopathic Gaucher disease sheep brain and spleen.

Glucocerebrosidase deficiency in dopaminergic neurons induces microglial activation without neurodegeneration.

Stabilization of glucocerebrosidase by active-site occupancy.

Engineering of GlcNAc-1-Phosphotransferase for Production of Highly Phosphorylated Lysosomal Enzymes for Enzyme Replacement Therapy.

The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease.

Induced Pluripotent Stem Cell Modeling of Gaucher's Disease: What Have We Learned?

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

Age and gender-specific reference intervals for lysosomal enzymes in dried blood spot samples: A study in Indian population.

Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature.

Intracellular metabolite β-glucosylceramide is an endogenous Mincle ligand possessing immunostimulatory activity.

Enrichment of apoplastic fluid with therapeutic recombinant protein for efficient biofarming.

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