{"created":"2023-06-20T16:50:44.800945+00:00","id":23309,"links":{},"metadata":{"_buckets":{"deposit":"89a55b5e-1e9b-40c8-9fcb-b0092832c145"},"_deposit":{"created_by":3,"id":"23309","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"23309"},"status":"published"},"_oai":{"id":"oai:kindai.repo.nii.ac.jp:00023309","sets":["14:2667:4819"]},"author_link":["3710","3992"],"control_number":"23309","item_8_biblio_info_21":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2021","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"7","bibliographicPageStart":"1","bibliographic_titles":[{"bibliographic_title":"科学研究費助成事業研究成果報告書 (2021)"}]}]},"item_8_description_25":{"attribute_name":"リンクURL","attribute_value_mlt":[{"subitem_description":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-19K07984/","subitem_description_type":"Other"}]},"item_8_description_33":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"研究成果の概要（和文）：本研究は、ATXN8OS関連筋萎縮性側索硬化症(ALS)の病態解明とiPS細胞由来の運動ニューロンモデルの構築と治療法開発を目標とした。ブレインバンクから提供された病理学的確診ALSのDNAを解析した。その結果、１例でATXN8OS変異を同定した。本例では、脊髄前角運動ニューロンにTDP43の凝集が見られた。また、別のATXN8OS関連ALS患者のiPS細胞を運動ニューロンへ誘導した。正常対照と比べ、明らかに生細胞数が減少していた。残存細胞内にRNA凝集が観察され、それらはTDP43と共在した。鎖特異的siRNAを発現させたところ、２種類のsiRNAで患者由来細胞の生存が有意に改善した。\n研究成果の概要（英文）： This study was aimed to elucidate the pathogenesis of ATXN8OS-related amyotrophic lateral sclerosis (ALS), to establish an iPS cell-derived motor neuron model, and to develop a therapeutic approach. We received tissue samples of pathologically confirmed ALS from the Brain Bank and analyzed their DNA. We identified an ATXN8OS mutation in one patient. In this patient, TDP43 aggregation was found in the anterior horn motoneurons of the spinal cord. In addition, induced pluripotent stem (iPS) cells from another ATXN8OS-related ALS patient were induced into motor neurons. A substantial decrease in the number of viable cells was observed, as compared to normal controls. In situ hybridization using fluorescent probes to detect repetitive sequences revealed intracellular aggregates, which were co-localized with TDP43. For therapeutic intervention, strand-specific siRNAs were expressed, and two siRNAs significantly increased the number of viable cells in patient-derived motor neurons.","subitem_description_type":"Abstract"}]},"item_8_description_36":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"研究種目：基盤研究(C); 研究期間：2019～2021; 課題番号：19K07984; 研究分野：脳神経内科; 科研費の分化・細目：","subitem_description_type":"Other"}]},"item_8_description_37":{"attribute_name":"資源タイプ(WEKO2)","attribute_value_mlt":[{"subitem_description":"Research Paper","subitem_description_type":"Other"}]},"item_8_description_41":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_description":"application/pdf","subitem_description_type":"Other"}]},"item_8_publisher_14":{"attribute_name":"出版者 名前","attribute_value_mlt":[{"subitem_publisher":"近畿大学"}]},"item_8_text_10":{"attribute_name":"著者 役割","attribute_value_mlt":[{"subitem_text_value":"研究代表者"},{"subitem_text_value":"研究分担者"}]},"item_8_text_7":{"attribute_name":"著者(英)","attribute_value_mlt":[{"subitem_text_language":"en","subitem_text_value":"Hirano, Makito"},{"subitem_text_language":"en","subitem_text_value":"Takehara, Toshiyuki"}]},"item_8_text_8":{"attribute_name":"著者 所属","attribute_value_mlt":[{"subitem_text_value":"近畿大学医学部; 教授"},{"subitem_text_value":"近畿大学医学部; 助教"}]},"item_8_text_9":{"attribute_name":"著者所属(翻訳)","attribute_value_mlt":[{"subitem_text_value":"Kindai University"},{"subitem_text_value":"Kindai University"}]},"item_8_version_type_12":{"attribute_name":"版","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_be7fb7dd8ff6fe43","subitem_version_type":"NA"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"平野, 牧人"},{"creatorName":"ヒラノ, マキト","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"竹原, 俊幸"},{"creatorName":"タケハラ, トシユキ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{},{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2022-12-05"}],"displaytype":"detail","filename":"19K07984seika.pdf","filesize":[{"value":"88.7 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"19K07984seika.pdf","url":"https://kindai.repo.nii.ac.jp/record/23309/files/19K07984seika.pdf"},"version_id":"4412bcce-9b5d-4592-bd15-7604cd08064f"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"核酸医薬品","subitem_subject_scheme":"Other"},{"subitem_subject":"筋萎縮性側索硬化症","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"research report","resourceuri":"http://purl.org/coar/resource_type/c_18ws"}]},"item_title":"ATXN8OS関連筋萎縮性側索硬化症における介在蛋白同定とiPS細胞モデル治療","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"ATXN8OS関連筋萎縮性側索硬化症における介在蛋白同定とiPS細胞モデル治療","subitem_title_language":"ja"},{"subitem_title":"Identification of proteins associated with ATXN8OS-related amyotrophic lateral sclerosis and treatment of iPS cell models","subitem_title_language":"en"}]},"item_type_id":"8","owner":"3","path":["4819"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2022-12-05"},"publish_date":"2022-12-05","publish_status":"0","recid":"23309","relation_version_is_last":true,"title":["ATXN8OS関連筋萎縮性側索硬化症における介在蛋白同定とiPS細胞モデル治療"],"weko_creator_id":"3","weko_shared_id":-1},"updated":"2023-08-02T05:43:20.536649+00:00"}