{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["6(3)"],"submitter":["Inaguma Y"],"pubmed_abstract":["Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessively inherited disorder with mental retardation (MR). Recently, mutations in the SIL1 gene, encoding a co-chaperone which regulates the chaperone HSPA5, were identified as a major cause of MSS. We here examined the pathophysiological significance of SIL1 mutations in abnormal corticogenesis of MSS. SIL1-silencing caused neuronal migration delay during corticogenesis ex vivo. While RNAi-resistant SIL1 rescued the defects, three MSS-causing SIL1 mutants tested did not. These mutants had lower affinities to HSPA5 in vitro, and SIL1-HSPA5 interaction as well as HSPA5 function was found to be crucial for neuronal migration ex vivo. Furthermore time-lapse imaging revealed morphological disorganization associated with abnormal migration "],"journal":["EMBO molecular medicine"],"pagination":["414-29"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3958314"],"repository":["biostudies-literature"],"pubmed_title":["SIL1, a causative cochaperone gene of Marinesco-Sojgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex."],"pmcid":["PMC3958314"],"pubmed_authors":["Morishita R","Suzuki M","Tabata H","Iwamoto I","Ito H","Nishimura YV","Mizuno M","Ohno K","Kumagai T","Nagata K","Inaguma Y","Hamada N"],"additional_accession":[]},"is_claimable":false,"name":"SIL1, a causative cochaperone gene of Marinesco-Sojgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex.","description":"Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessively inherited disorder with mental retardation (MR). Recently, mutations in the SIL1 gene, encoding a co-chaperone which regulates the chaperone HSPA5, were identified as a major cause of MSS. We here examined the pathophysiological significance of SIL1 mutations in abnormal corticogenesis of MSS. SIL1-silencing caused neuronal migration delay during corticogenesis ex vivo. While RNAi-resistant SIL1 rescued the defects, three MSS-causing SIL1 mutants tested did not. These mutants had lower affinities to HSPA5 in vitro, and SIL1-HSPA5 interaction as well as HSPA5 function was found to be crucial for neuronal migration ex vivo. Furthermore time-lapse imaging revealed morphological disorganization associated with abnormal migration ","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 Mar","modification":"2026-04-16T09:11:38.487Z","creation":"2019-03-27T01:23:39Z"},"accession":"S-EPMC3958314","cross_references":{"pubmed":["24473200"],"doi":["10.1002/emmm.201303069"]}}