Sort   by:  
 Page size 
TranscriptomicsBeyond the Macrophage: System-wide Cellular and Molecular Dysregulation in GBA1 Deficient Mice Recapitulates Human Non-neuronopathic, Type 1 Gaucher Disease
In non-neuronopathic type 1 Gaucher disease (GD1) mutations in GBA1 gene results in deficiency of glucocerebrosidase and the accumulation of glucocerebroside in lysosomes of mononuclear phagocytes. The metabolic defect leads to a complex phenotype involving the viscera, the bone marrow and the skele...
ORGANISM(S): Mus musculus 
2010-07-29 | E-GEOD-23086 | biostudies-arrayexpress
ProteomicsProteomics analysis of lysosomes and whole cell lysates from H4 cellsLysosome, H4, glucocerebrosidase
Studies have shown that the majority of Parkinson's disease patients have at least one putative damaging variant in a lysosomal storage disorder gene (60%) and in about 10% of sporadic PD subjects, the disease is associated with mutations in GBA1, a gene coding for glucocerebrosidase, a lysosomal hy...
ORGANISM(S): Homo sapiens (Human) 
2023-03-24 | PXD036361 | Pride
Lysosome Glucocerebrosidase H4 
GenomicsMutant glucocerebrosidase impairs alpha-synuclein degradation by blockade of chaperone-mediated autophagy
Mutant glucocerebrosidase impairs alpha-synuclein degradation by blockade of chaperone-mediated autophagy
PRJNA781959 | ENA
UnknownGlucocerebrosidase is shaking up the synucleinopathies.
Not available
S-EPMC3999712 | biostudies-literature
UnknownGlucocerebrosidase as a therapeutic target for Parkinson's disease.
Not available
S-EPMC7113099 | biostudies-literature
TranscriptomicsDifferential gene expression in 2 days old zebrafish after glucocerebrosidase (GBA1) morpholino-mediated knockdown
Gene expression signature was explored to identify gene targets regulate by dysfunctional glucocerebrosidase function. We found 131 upregulated genes and 63 downregulated genes. Some of the most upregulated (PON3, PLOD1) and downregulated (gpx-1b and complemewnt c9) genes were analyzed by q-PCR demo...
ORGANISM(S): Danio rerio 
2014-02-07 | GSE54754 | GEO
GenomicsUnexpected consequences of combined glucocerebrosidase and acid sphingomyelinase deficiency in a model of Parkinson’s disease
Unexpected consequences of combined glucocerebrosidase and acid sphingomyelinase deficiency in a model of Parkinson’s disease
PRJNA956943 | ENA
GenomicsProgranulin–glucocerebrosidase complex regulates tau and alpha-synuclein inclusions to alter phenotypes in tauopathy
Progranulin–glucocerebrosidase complex regulates tau and alpha-synuclein inclusions to alter phenotypes in tauopathy
PRJNA749056 | ENA
UnknownGlucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders.
Not available
S-EPMC3352317 | biostudies-literature
UnknownIdentification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.
Not available
S-EPMC4615671 | biostudies-literature
Sort   by:  
 Page size