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「glucocerebrosidase」の検索結果

2837件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

Reduced glucocerebrosidase activity in monocytes from patients with Parkinson's disease.

Neurological effects of GBA mutations.

Lipid-dependent deposition of alpha-synuclein and Tau on neuronal Secretogranin II-positive vesicular membranes with age.

Biochemical Characterization of the c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.

Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus.

Strawberry seed extract and its major component, tiliroside, promote ceramide synthesis in the stratum corneum of human epidermal equivalents.

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.

Glucocerebrosidase deficiency promotes protein aggregation through dysregulation of extracellular vesicles.

Path mediation analysis reveals GBA impacts Lewy body disease status by increasing α-synuclein levels.

A novel Parkinson's disease risk variant, p. W378R, in the Gaucher's disease GBA gene.

Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations.

Mitochondrial Dysfunction and Mitophagy Defect Triggered by Heterozygous GBA Mutations.

The glycoprotein GPNMB is selectively elevated in the substantia nigra of Parkinson's disease patients and increases after lysosomal stress.

Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1.

Enzyme Replacement Therapy in a Gaucher Family.

Cognition among individuals along a spectrum of increased risk for Parkinson's disease.

Prevalence of pre-diagnostic symptoms did not differ between LRRK2-related, GBA-related and idiopathic patients with Parkinson's disease.

Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease.

Epidermal Lamellar Granules.

Orthoester functionalized -guanidino derivatives of 1,5-dideoxy-1,5-imino-d-xylitol as pH-responsive inhibitors of β-glucocerebrosidase.

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