ArrayExpress Uploader0mousepostnatal day 7 (P7)cystatin B (CSTB)-deficient (Cstb-/-)cerebellummalepostnatal day 7 (P7)cystatin B (CSTB)-deficient (Cstb-/-)cerebellummalepostnatal day 7 (P7)cystatin B (CSTB)-deficient (Cstb-/-)cerebellummalepostnatal day 7 (P7)cystatin B (CSTB)-deficient (Cstb-/-)cerebellumfemalepostnatal day 7 (P7)wild typecerebellumfemalepostnatal day 7 (P7)wild typecerebellumfemalepostnatal day 7 (P7)wild typecerebellummalepostnatal day 7 (P7)wild typecerebellumfemalepostnatal day 30 (P30)cystatin B (CSTB)-deficient (Cstb-/-)cerebellumfemalepostnatal day 30 (P30)cystatin B (CSTB)-deficient (Cstb-/-)cerebellummalepostnatal day 30 (P30)cystatin B (CSTB)-deficient (Cstb-/-)cerebellummalepostnatal day 30 (P30)wild typecerebellummalepostnatal day 30 (P30)wild typecerebellummalepostnatal day 30 (P30)wild typecerebellummaleP5+2 DIVcystatin B (CSTB)-deficient (Cstb-/-)cerebellar granule cellsmaleP5+2 DIVcystatin B (CSTB)-deficient (Cstb-/-)cerebellar granule cellsfemaleP5+2 DIVcystatin B (CSTB)-deficient (Cstb-/-)cerebellar granule cellsfemaleP5+2 DIVwild typecerebellar granule cellsmaleP5+2 DIVwild typecerebellar granule cellsfemaleP5+2 DIVwild typecerebellar granule cellsmaleP5+2 DIVwild typecerebellar granule cellsfemale7318arrayexpress_sid6Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an inherited neurodegenerative disease with myoclonus, seizures and...E-GEOD-47516/profile/8773/arrayexpressuploader421cerebellumcytoskeletondiseaseepilepsygenomeneurodegenerative diseaseprogressive myoclonus epilepsyDec.12, 2014Falsegene-expression-alterations-in-the-cerebellum-andE-GEOD-47516_A-AFFY-45Gene expression alterations in the cerebellum and granule neurons of Cstb-/- mouse are associated with early synaptic changes and inflammationNov.12, 2014Progressive 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® Mouse Genome 430 2.0 arrays (Affymetrix, Santa Clara, CA, USA) were performed in Helsinki Biomedicum Biochip Center (Finland).http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-47516http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-47516/samples/