{"owner": "ArrayExpress Uploader", "pop_total": 0, "species": "human", "factors": [{"B4M_1": {"genotype": "CavB4-R482X-GFP transfected"}}, {"B4M_1": {"genotype": "CavB4-R482X-GFP transfected"}}, {"B4M_1": {"genotype": "CavB4-R482X-GFP transfected"}}, {"B4_1": {"genotype": "CavB4-GFP transfected"}}, {"B4_1": {"genotype": "CavB4-GFP transfected"}}, {"B4_1": {"genotype": "CavB4-GFP transfected"}}, {"GFP_1": {"genotype": "GFP transfected"}}, {"GFP_1": {"genotype": "GFP transfected"}}, {"GFP_1": {"genotype": "GFP transfected"}}], "id": 5090, "ownerprofile_id": "arrayexpress_sid", "platform": 4, "summary_wrapped": "Calcium channel B subunits (CavB) are mainly recognized for their contribution as regulatory subunits in modulating biophysical and...", "geo_gse_id": "E-MEXP-1165", "owner_profile": "/profile/8773/arrayexpressuploader", "factor_count": 1, "sample_count": 9, "tags": ["amino acid", "cell", "epilepsy", "juvenile myoclonic epilepsy", "line", "myoclonic epilepsy"], "lastmodified": "Dec.12, 2014", "is_default": false, "geo_gds_id": "", "slug": "transcription-profiling-of-human-hek293-cells-tr-2", "geo_id_plat": "E-MEXP-1165_A-AFFY-44", "name": "Transcription profiling of human HEK293 cells transfected with CavB4 or CavB4-R482X mutant cDNA", "created": "Sep.22, 2014", "summary": "Calcium channel B subunits (CavB) are mainly recognized for their contribution as regulatory subunits in modulating biophysical and trafficking channel properties. Here, we report for a novel function of the neuronal auxiliary CavB4 subunit in nuclear localization and transcriptional activity. In CA1 hippocampal neurons, nuclear translocation of CavB4 is differentiation-dependent. Similarly, in NG108-15 cell line, the nuclear localization of CavB4 is triggered by cAMP, a neuronal differentiating factor. The nuclear translocation of CavB4 requires an intact SH3 / GK interaction and is lost for a 38 amino acid C-terminal truncated form of the subunit implicated in human juvenile myoclonic epilepsy (CavB4-R482X mutant). The nuclear localization of CavB4 induces the regulation of numerous of genes which is not the case for the human mutation. These data indicate that gene regulation by a calcium channel subunit may contribute to the acquisition of a neuronal phenotype, a process that is disturbed if the nuclear localization is hampered by a mutation implicated in a severe neurological phenotype.", "source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-MEXP-1165", "sample_source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-MEXP-1165/samples/"}