{"created":"2023-06-26T11:00:19.455178+00:00","id":770,"links":{},"metadata":{"_buckets":{"deposit":"acc7943b-5c2b-4747-82a9-726b7ab806c4"},"_deposit":{"created_by":27,"id":"770","owners":[27],"pid":{"revision_id":0,"type":"depid","value":"770"},"status":"published"},"_oai":{"id":"oai:oist.repo.nii.ac.jp:00000770","sets":["6:40"]},"author_link":["3959","3964","3963","3962","3960","3967","3968","3965","3966","3958","3961","3957","3956"],"item_10001_biblio_info_7":{"attribute_name":"Bibliographic Information","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2018-05-22","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicVolumeNumber":"9","bibliographic_titles":[{},{"bibliographic_title":"Nature Communications","bibliographic_titleLang":"en"}]}]},"item_10001_creator_3":{"attribute_name":"Author","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Luisier, Raphaelle"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tyzack, Giulia E."}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Hall, Claire E."}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Mitchell, Jamie S."}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Devine, Helen"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Taha, Doaa M."}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Malik, Bilal"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Meyer, Ione"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Greensmith, Linda"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Newcombe, Jia"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ule, Jernej"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Luscombe, Nicholas M."}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Patani, Rickie"}],"nameIdentifiers":[{}]}]},"item_10001_description_5":{"attribute_name":"Abstract","attribute_value_mlt":[{"subitem_description":"Mutations causing amyotrophic lateral sclerosis (ALS) strongly implicate ubiquitously expressed regulators of RNA processing. To understand the molecular impact of ALS-causing mutations on neuronal development and disease, we analysed transcriptomes during in vitro differentiation of motor neurons (MNs) from human control and patient-specific VCP mutant induced-pluripotent stem cells (iPSCs). We identify increased intron retention (IR) as a dominant feature of the splicing programme during early neural differentiation. Importantly, IR occurs prematurely in VCP mutant cultures compared with control counterparts. These aberrant IR events are also seen in independent RNAseq data sets from SOD1- and FUS-mutant MNs. The most significant IR is seen in the SFPQ transcript. The SFPQ protein binds extensively to its retained intron, exhibits lower nuclear abundance in VCP mutant cultures and is lost from nuclei of MNs in mouse models and human sporadic ALS. Collectively, we demonstrate SFPQ IR and nuclear loss as molecular hallmarks of familial and sporadic ALS.","subitem_description_type":"Other"}]},"item_10001_publisher_8":{"attribute_name":"Publisher","attribute_value_mlt":[{"subitem_publisher":"Nature Research"}]},"item_10001_relation_13":{"attribute_name":"PubMedNo.","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"info:pmid/29789581","subitem_relation_type_select":"PMID"}}]},"item_10001_relation_14":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"info:doi/10.1038/s41467-018-04373-8","subitem_relation_type_select":"DOI"}}]},"item_10001_relation_17":{"attribute_name":"Related site","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://www.nature.com/articles/s41467-018-04373-8","subitem_relation_type_select":"URI"}}]},"item_10001_rights_15":{"attribute_name":"Rights","attribute_value_mlt":[{"subitem_rights":"© 2018 The Author(s)."}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2041-1723","subitem_source_identifier_type":"ISSN"}]},"item_10001_version_type_20":{"attribute_name":"Author's flag","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-12-07"}],"displaytype":"detail","filename":"Luisier-2018-Intron retention and nuclear loss.pdf","filesize":[{"value":"8.4 MB"}],"format":"application/pdf","license_note":"Creative Commons \nAttribution 4.0 International\n(https://creativecommons.org/licenses/by/4.0/)","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Luisier-2018-Intron retention and nuclear loss","url":"https://oist.repo.nii.ac.jp/record/770/files/Luisier-2018-Intron retention and nuclear loss.pdf"},"version_id":"f55d3672-30b3-45b8-a151-47b041878131"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Intron retention and nuclear loss of SFPQ are molecular hallmarks of ALS","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Intron retention and nuclear loss of SFPQ are molecular hallmarks of ALS","subitem_title_language":"en"}]},"item_type_id":"10001","owner":"27","path":["40"],"pubdate":{"attribute_name":"公開日","attribute_value":"2018-12-07"},"publish_date":"2018-12-07","publish_status":"0","recid":"770","relation_version_is_last":true,"title":["Intron retention and nuclear loss of SFPQ are molecular hallmarks of ALS"],"weko_creator_id":"27","weko_shared_id":27},"updated":"2023-06-26T12:03:21.047756+00:00"}