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「glucocerebrosidase」の検索結果

3013件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease.

The GCD3 protein is a glucosylceramidase that preferentially hydrolyzes long-acyl-chain glucosylceramides.

A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models.

Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort.

LRRK2 kinase activity regulates lysosomal glucocerebrosidase in neurons derived from Parkinson's disease patients.

Circulating Brain-enriched MicroRNAs for detection and discrimination of idiopathic and genetic Parkinson's disease.

Rare genotype associated with severe bone disease in Gaucher disease type 1.

Clinical Evaluation of Sibling Pairs With Gaucher Disease Discordant for Parkinsonism.

Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease.

GBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies.

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.

Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles.

mutation promotes early mitochondrial dysfunction in 3D neurosphere models.

Novel topical skin hydration agent containing Anadenanthera colubrina polysaccharide-standardized herbal preparation.

Autophagic- and Lysosomal-Related Biomarkers for Parkinson's Disease: Lights and Shadows.

Substrate reduction therapy for GBA1-associated Parkinsonism: Are we betting on the wrong mouse?

Reduction of large soft-tissue Gaucheromas with substrate reduction therapy.

Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease.

Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature.

Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload.

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