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Series GSE47516 Query DataSets for GSE47516
Status Public on Mar 03, 2014
Title Gene expression alterations in the cerebellum and granule neurons of Cstb-/- mouse are associated with early synaptic changes and inflammation
Organism Mus musculus
Experiment type Expression profiling by array
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.
Overall design 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).
Contributor(s) Joensuu T, Tegelberg S, Reinmaa E, Segestråle M, Hakala P, Pehkonen H, Korpi E, Tyynelä J, Taira T, Hovatta I, Kopra O, Lehesjoki A
Citation(s) 24586687
Submission date May 30, 2013
Last update date Feb 11, 2019
Contact name Tarja Hannele Joensuu
Phone +358-9-19125081
Fax +358-9-19125073
Organization name Folkhälsan Research Center
Department Folkhälsan Institute of Genetics
Street address Haartmaninkatu 8 (PO Box 63)
City Helsinki
ZIP/Postal code 000290
Country Finland
Platforms (1)
GPL1261 [Mouse430_2] Affymetrix Mouse Genome 430 2.0 Array
Samples (21)
GSM1151351 mouse cerebellum at P7 knockout 1
GSM1151352 mouse cerebellum at P7 knockout 2
GSM1151353 mouse cerebellum at P7 knockout 3
BioProject PRJNA205945

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Supplementary file Size Download File type/resource
GSE47516_RAW.tar 76.6 Mb (http)(custom) TAR (of CEL)
Raw data provided as supplementary file
Processed data included within Sample table

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