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SAGE analysis of Type 2 Gaucher brain

ABSTRACT: 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).

ORGANISM(S): Homo sapiens

PROVIDER: GSE25756 | GEO | 2010/12/01

SECONDARY ACCESSION(S): PRJNA134047

REPOSITORIES: GEO

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SAGE analysis of Type 2 Gaucher brain

Project description: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 ensure that all GEO Samples are included within a Series entry.

2010-12-01 | E-GEOD-25756 | biostudies-arrayexpress

SAGE analysis of normal human thyroid tissue

Project description:This library was generated from normal human thyroid tissue collected at routine autopsy. Standard SAGE protocol was used (Velculescu et al. Science 1995). Data from this library was published in: 'Pauws E, Moreno JC, Tijssen M, Baas F, de Vijlder JJ, Ris-Stalpers C. J Clin Endocrinol Metab. 2000 May;85(5):1923-7' Data was generated and analyzed at the laboratory of Pediatric Endocrinology, Academic Medial Center, Amsterdam, The Netherlands.

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Elevated gpNMB in type 1 Gaucher disease patients

Project description: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 glucocerebrosidase. We here report how LC-MSE analysis of the proteome of laser-dissected splenic Gaucher cells revealed high expression of several proteins amongst which was gpNMB. This was confirmed by histochemistry and RNA quantification. Macrophages produce gpNMB as membrane protein but release soluble fragments. In plasma of symptomatic Gaucher patients (n=59) soluble gpNMB was next found to be on average 25-fold increased prior to treatment, without overlap with control values, (control mean: 20 ng/ml; range 11-34 ng/ml vs. GD mean: 495 ng/ml; range: 137-1283 ng/ml).

2016-09-27 | PXD001598 | Pride

Gene expression from Gaucher Disease iPSc

Project description: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 analysis from a human embryonic stem cell line (hES4). Two different iPSc cell lines derived from Gaucher Disease type 2 fibroblasts were analysed in order to be compared to iPSc derived from Wild Type fibroblasts (only one cell line) and human embryonic stem cells (only one cell line). The initial cells: two different wild type fibroblasts and one Gaucher disease type 2 fibroblasts were also analysed.

2012-12-07 | E-GEOD-41243 | biostudies-arrayexpress

Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease

Project description: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-metastatic B (GPNMB), that acts as an authentic marker of brain pathology in neurological forms of Gaucher disease. Using three independent techniques, including quantitative global proteomic analysis of cerebrospinal fluid (CSF) in samples from Gaucher disease patients that display neurological symptoms, we demonstrate a correlation between the severity of symptoms and GPNMB levels. Moreover, GPNMB levels in the CSF correlate with disease severity in a mouse model of Gaucher disease. GPNMB was also elevated in brain samples from patients with type 2 and 3 Gaucher disease. Our data suggest that GPNMB can be used as a marker to quantify neuropathology in Gaucher disease patients and as a marker of treatment efficacy once suitable treatments towards the neurological symptoms of Gaucher disease become available.

2016-06-24 | PXD001654 | Pride

Human Leukocytes SAGE

Project description:This series represents the human leukocyte SAGE library collection. Keywords: Human Leukocytes, Blood, SAGE

2006-09-16 | GSE5833 | GEO

eye-SAGE

Project description:Human retinal and RPE SAGE libraries. Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE). Keywords: other

2001-10-03 | GSE10 | GEO

SAGE in Rhipicephalus (Boophilus) microplus following OP treatment of larvae from OP resistant/susceptible strains.

Project description:Organophosphate resistant and susceptible tick larvae from laboratory strains of the southern cattle tick, Rhipicephalus (Boophilus) microplus were exposed to low doses of the organophosphate (OP) acaricide, coumaphos. Serial Analysis of Gene Expression (SAGE) was used to analyze differential gene expression in response to OP treatment and to compare the responses in OP-treated and untreated resistant and susceptible tick larvae. ** note: Contact person is Felix D. Guerrero. email: felix.guerrero@ars.usda.gov Keywords: SAGE, acaricide response, organophosphate.

2008-05-14 | GSE10109 | GEO

Global Gene Expression Profiles in Cultured Skin Fibroblasts Derived from Patients with Gaucher Disease

Project description:This work presents the discovery of genes that are dysregulated in patients with Type I and Type III Gaucher Disease. It provides insight into the unique pathogenesis of these phenotypes, improved diagnostic accuracy and potential novel therapies for these patients. Control and patient fibroblast cultures were established from full-thickness, skin biopsies obtained under a protocol approved by the IRB of the National Institute of Neurological Disorders and Stroke. Patient cultures were homoallelic for either the N370S mutation (non-neuronopathic, Gaucher Disease Type I, n=5), the L444P mutation (neuronopathic, Gaucher Disease Type III, n=5), or Wild-Type (Control, n=4).

2010-06-08 | E-GEOD-21899 | biostudies-arrayexpress

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