{"owner": "ArrayExpress Uploader", "pop_total": 0, "species": "mouse", "factors": [{"GSM115135": {"DEVELOPMENTAL STAGE": "postnatal day 7 (P7)", "GENOTYPE": "cystatin B (CSTB)-deficient (Cstb-/-)", "ORGANISM PART": "cerebellum", "SEX": "male"}}, {"GSM115135": {"DEVELOPMENTAL STAGE": "postnatal day 7 (P7)", "GENOTYPE": "cystatin B (CSTB)-deficient (Cstb-/-)", "ORGANISM PART": "cerebellum", "SEX": "male"}}, {"GSM115135": {"DEVELOPMENTAL STAGE": "postnatal day 7 (P7)", "GENOTYPE": "cystatin B (CSTB)-deficient (Cstb-/-)", "ORGANISM PART": "cerebellum", "SEX": "male"}}, {"GSM1151354": {"DEVELOPMENTAL STAGE": "postnatal day 7 (P7)", "GENOTYPE": "cystatin B (CSTB)-deficient (Cstb-/-)", "ORGANISM PART": "cerebellum", "SEX": "female"}}, {"GSM1151355": {"DEVELOPMENTAL STAGE": "postnatal day 7 (P7)", "GENOTYPE": "wild type", "ORGANISM PART": "cerebellum", "SEX": "female"}}, {"GSM1151355": {"DEVELOPMENTAL STAGE": "postnatal day 7 (P7)", "GENOTYPE": "wild type", "ORGANISM PART": "cerebellum", "SEX": "female"}}, {"GSM1151357": {"DEVELOPMENTAL STAGE": "postnatal day 7 (P7)", "GENOTYPE": "wild type", "ORGANISM PART": "cerebellum", "SEX": "male"}}, {"GSM1151355": {"DEVELOPMENTAL STAGE": "postnatal day 7 (P7)", "GENOTYPE": "wild type", "ORGANISM PART": "cerebellum", "SEX": "female"}}, {"GSM1151359": {"DEVELOPMENTAL STAGE": "postnatal day 30 (P30)", "GENOTYPE": "cystatin B (CSTB)-deficient (Cstb-/-)", "ORGANISM PART": "cerebellum", "SEX": "female"}}, {"GSM1151360": {"DEVELOPMENTAL STAGE": "postnatal day 30 (P30)", "GENOTYPE": "cystatin B (CSTB)-deficient (Cstb-/-)", "ORGANISM PART": "cerebellum", "SEX": "male"}}, {"GSM1151360": {"DEVELOPMENTAL STAGE": "postnatal day 30 (P30)", "GENOTYPE": "cystatin B (CSTB)-deficient (Cstb-/-)", "ORGANISM PART": "cerebellum", "SEX": "male"}}, {"GSM1151362": {"DEVELOPMENTAL STAGE": "postnatal day 30 (P30)", "GENOTYPE": "wild type", "ORGANISM PART": "cerebellum", "SEX": "male"}}, {"GSM1151362": {"DEVELOPMENTAL STAGE": "postnatal day 30 (P30)", "GENOTYPE": "wild type", "ORGANISM PART": "cerebellum", "SEX": "male"}}, {"GSM1151362": {"DEVELOPMENTAL STAGE": "postnatal day 30 (P30)", "GENOTYPE": "wild type", "ORGANISM PART": "cerebellum", "SEX": "male"}}, {"GSM1151365": {"DEVELOPMENTAL STAGE": "P5+2 DIV", "GENOTYPE": "cystatin B (CSTB)-deficient (Cstb-/-)", "ORGANISM PART": "cerebellar granule cells", "SEX": "male"}}, {"GSM1151366": {"DEVELOPMENTAL STAGE": "P5+2 DIV", "GENOTYPE": "cystatin B (CSTB)-deficient (Cstb-/-)", "ORGANISM PART": "cerebellar granule cells", "SEX": "female"}}, {"GSM1151366": {"DEVELOPMENTAL STAGE": "P5+2 DIV", "GENOTYPE": "cystatin B (CSTB)-deficient (Cstb-/-)", "ORGANISM PART": "cerebellar granule cells", "SEX": "female"}}, {"GSM1151368": {"DEVELOPMENTAL STAGE": "P5+2 DIV", "GENOTYPE": "wild type", "ORGANISM PART": "cerebellar granule cells", "SEX": "male"}}, {"GSM1151369": {"DEVELOPMENTAL STAGE": "P5+2 DIV", "GENOTYPE": "wild type", "ORGANISM PART": "cerebellar granule cells", "SEX": "female"}}, {"GSM1151368": {"DEVELOPMENTAL STAGE": "P5+2 DIV", "GENOTYPE": "wild type", "ORGANISM PART": "cerebellar granule cells", "SEX": "male"}}, {"GSM1151369": {"DEVELOPMENTAL STAGE": "P5+2 DIV", "GENOTYPE": "wild type", "ORGANISM PART": "cerebellar granule cells", "SEX": "female"}}], "id": 7318, "ownerprofile_id": "arrayexpress_sid", "platform": 6, "summary_wrapped": "Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an inherited neurodegenerative disease with myoclonus, seizures and...", "geo_gse_id": "E-GEOD-47516", "owner_profile": "/profile/8773/arrayexpressuploader", "factor_count": 4, "sample_count": 21, "tags": ["cerebellum", "cytoskeleton", "disease", "epilepsy", "genome", "neurodegenerative disease", "progressive myoclonus epilepsy"], "lastmodified": "Dec.12, 2014", "is_default": false, "geo_gds_id": "", "slug": "gene-expression-alterations-in-the-cerebellum-and", "geo_id_plat": "E-GEOD-47516_A-AFFY-45", "name": "Gene expression alterations in the cerebellum and granule neurons of Cstb-/- mouse are associated with early synaptic changes and inflammation", "created": "Nov.12, 2014", "summary": "Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an inherited neurodegenerative disease with myoclonus, seizures and ataxia, caused by the mutations in cystatin B (CSTB) gene. In an approach towards understanding the molecular basis of pathogenic events in EPM1 we have utilized the cystatin B  deficient mice (Cstb-/-), a model for the disease. We have characterized the gene expression changes from the cerebellum of Cstb-/- mouse at postnatal day 7 (P7) and P30 as well as in cultured cerebellar granule cells using a pathway-based approach. A marked upregulation of immune response genes was seen at P30, reflecting the ongoing neuropathology, however, the observed alterations in complement cascade genes could also imply defects in synaptic plasticity. Differentially expressed genes in pre-symptomatic Cstb-/- animals at P7 were connected to synaptic function and plasticity and in cultured cerebellar granule cells to cellular biogenesis, cytoskeleton and intracellular transport. Especially GABAergic pathways were affected. The sample preparation and hybridzation of each cRNAs on GeneChip\u00ae Mouse Genome 430 2.0 arrays (Affymetrix, Santa Clara, CA, USA) were performed in Helsinki Biomedicum Biochip Center (Finland).", "source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-47516", "sample_source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-47516/samples/"}