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ProteomicsIdentification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease
Gaucher disease, a recessive inherited metabolic disorder caused by defects in the gene encoding glucosylceramidase (GlcCerase), can be divided into three subtypes according to the appearance of symptoms associated with central nervous system involvement. We now identify a protein, glycoprotein non-...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-03-29 | MSV000080786 | MassIVE
TranscriptomicsSAGE analysis of Type 2 Gaucher brain
This library was constructed from mRNA derived from an eight month old female with type 2 Gaucher disease according to the SAGE protocol of V. E. Velculescu et al. (1995), in the laboratory of R. L. Proia (NIDDK, NIH). This GEO Series was created by the GEO staff as part of a cleanup effort to ensu...
ORGANISM(S): Homo sapiens 
2010-12-01 | E-GEOD-25756 | biostudies-arrayexpress
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
ProteomicsElevated gpNMB in type 1 Gaucher disease patients
Gaucher disease (GD) is characterized by the presence of glucosylceramide-laden macrophages (Gaucher cells) as the result of deficiency in the lysosomal hydrolase glucocerebrosidase (GBA). Non-neuronopathic type 1 GD is effectively treated by infusions with macrophage-targeted recombinant glucocereb...
ORGANISM(S): Homo sapiens (Human) 
2016-09-27 | PXD001598 | Pride
Gpnmb Lcmse Gaucher disease Proteomics Biomarker 
ProteomicsIdentification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease
Gaucher disease, a recessive inherited metabolic disorder caused by defects in the gene encoding glucosylceramidase (GlcCerase), can be divided into three subtypes according to the appearance of symptoms associated with central nervous system involvement. We now identify a protein, glycoprotein non-...
ORGANISM(S): Homo sapiens (Human) 
2016-06-24 | PXD001654 | Pride
Csf Gaucher Proteomics 
ProteomicsProteomics analysis of the brain from a Gaucher disease mouse identifies pathological pathways including a possible role for transglutaminase 1
Gaucher disease (GD) is caused by the defective activity of acid beta-glucosidase (GCase) which results from mutations in GBA1. Neurological forms of GD (nGD) can be generated in mice by intra-peritoneal injection of conduritol B-epoxide (CBE) which irreversibly inhibits GCase. Using this approach, ...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2023-07-12 | MSV000092415 | MassIVE
TranscriptomicsGene expression from Gaucher Disease iPSc
Gene expression data obtained from induced pluripotent stem cells derived from wild type fibroblasts (iPSc WT) and from Gaucher Disease type 2 fibroblasts (GD iPSc). Also, gene expression analysis from the initial fibroblasts was made (WT fibroblasts and GD- fibroblasts), as well as gene expression ...
ORGANISM(S): Homo sapiens 
2012-12-07 | E-GEOD-41243 | biostudies-arrayexpress
TranscriptomicsGaucher Disease: Transcriptome Analyses Using Microarray or mRNA Sequencing in a Mouse Model Treated with velaglucerase alfa or imiglucerase [Affymetrix]
The comparative whole genome transcriptome effects of two similar pharmaceuticals, imig or vela, on a Gaucher disease mouse model, 9V/null, were evaluated by two commonly used platforms, mRNA-Seq and microarray. Also, statistical methods, DESeq and edgeR for mRNA-Seq and Mixed Model ANOVA for microa...
ORGANISM(S): Mus musculus 
2013-09-07 | E-GEOD-44647 | biostudies-arrayexpress
UnknownEvaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey.
Not available
S-EPMC11776217 | biostudies-literature
TranscriptomicsDifferential Molecular Effects of Imiglucerase and Velaglucerase Alfa in Gaucher Disease Mice [Affymetrix]
Gaucher disease type 1 is an inborn error of metabolic disease with the defective activity of the lysosomal enzyme acid b-glucosidase (GCase). Enzyme replacement/reconstitution therapy (ERT), infusions with purified recombinant GCases, is efficacious in reversing hematologic, hepatic, splenic, and b...
ORGANISM(S): Mus musculus 
2013-09-07 | E-GEOD-44569 | biostudies-arrayexpress
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