{"created":"2023-07-25T08:03:00.029023+00:00","id":861,"links":{},"metadata":{"_buckets":{"deposit":"b0d23dbf-0b73-4818-bd8b-d82e6a2cbbae"},"_deposit":{"created_by":3,"id":"861","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"861"},"status":"published"},"_oai":{"id":"oai:ir.kagoshima-u.ac.jp:00000861","sets":[]},"author_link":["117801","5469","117800","117802"],"item_8_alternative_title_18":{"attribute_name":"別言語のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Pathomechanism of spinocereballar ataxia with axonal neuropathy (SCAN1) -DNA single strand break repair and neurodegeneration"}]},"item_8_alternative_title_19":{"attribute_name":"タイトルよみ","attribute_value_mlt":[{"subitem_alternative_title":"イッポンサ DNA シュウフク イジョウショウ SCAN1 ノ シンケイ ヘンセイ キコウ ノ カイメイ"}]},"item_8_date_6":{"attribute_name":"作成日","attribute_value_mlt":[{"subitem_date_issued_datetime":"2012-05-30"}]},"item_8_description_4":{"attribute_name":"要約(Abstract)","attribute_value_mlt":[{"subitem_description":"2009-2011年度科学研究費助成事業(科学研究費補助金(基盤研究(C)))研究成果報告書　課題番号：21591095　研究代表者：高嶋博 (鹿児島大学大学院医歯学総合研究科教授)","subitem_description_type":"Other"},{"subitem_description":"我々は、以前末梢神経障害と小脳失調を示す疾患（SCAN1）の原因TDP1を同定した。TDP1は一本鎖DNAの修復に関与している。我々はTdp1の欠失マウスを解析し、神経変性メカニズムを明らかにする。Tdp1ノックアウトマウスでは、脳神経系や主要臓器に異常がなく、網膜萎縮が見られ, 外顆粒層の脱落所見があり、ヒトの網膜色素変性症の類似の所見が得られた。マイクロアレイによる発現解析でTdp1欠失による転写への影響も確認した。一本鎖DNA修復障害による神経変性のひとつの病態について解明した。","subitem_description_type":"Other"},{"subitem_description":"Spinocerebellar ataxia with axonal neuropathy (SCAN1) is an autosomal recessive disorder characterized by ataxia, cerebellar atrophy, and peripheral neuropathy. We found SCAN1 is caused by a specific point mutation the tyrosyl-DNA phosphodiesterase (TDP1) gene. Functional and genetic studies suggest that this mutation, which disrupts the active site of the Tdp1 enzyme, causes disease by a combination of decreased catalytic activity and stabilization of the normally transient covalent Tdp1-DNA intermediate. The Tdp1 knockout mice showed the retinitis pigmentosa like phenotype. The RNA expressions were mostly normal in the microarray studies of Tdp1 knockout mice. These findings make spurred understanding of DNA repair in human biology and suggested a novel mechanism of human disease.","subitem_description_type":"Other"}]},"item_8_full_name_2":{"attribute_name":"著者よみ","attribute_value_mlt":[{"nameIdentifiers":[{}],"names":[{"name":"タカシマ, ヒロシ"}]}]},"item_8_full_name_3":{"attribute_name":"別言語の著者","attribute_value_mlt":[{"nameIdentifiers":[{}],"names":[{"name":"TAKASHIMA, Hiroshi"}]},{"nameIdentifiers":[{}],"names":[{"name":"髙嶋, 博"}]}]},"item_8_publisher_23":{"attribute_name":"公開者・出版者","attribute_value_mlt":[{"subitem_publisher":"鹿児島大学"}]},"item_8_subject_15":{"attribute_name":"NDC","attribute_value_mlt":[{"subitem_subject":"493","subitem_subject_scheme":"NDC"}]},"item_8_text_24":{"attribute_name":"公開者よみ","attribute_value_mlt":[{"subitem_text_value":"カゴシマ ダイガク"}]},"item_8_text_25":{"attribute_name":"公開者別名","attribute_value_mlt":[{"subitem_text_value":"Kagoshima University"}]},"item_8_text_41":{"attribute_name":"科研費番号 ","attribute_value_mlt":[{"subitem_text_value":"21591095"}]},"item_8_version_type_14":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"高嶋, 博"}],"nameIdentifiers":[{},{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2016-10-27"}],"displaytype":"detail","filename":"21591095seika.pdf","filesize":[{"value":"285.8 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"21591095seika.pdf","url":"https://ir.kagoshima-u.ac.jp/record/861/files/21591095seika.pdf"},"version_id":"5ad8bea4-5ba9-41f7-99fd-561c8798101b"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"SCAN1","subitem_subject_scheme":"Other"},{"subitem_subject":"Tdp1","subitem_subject_scheme":"Other"},{"subitem_subject":"SSBR","subitem_subject_scheme":"Other"},{"subitem_subject":"末梢神経障害","subitem_subject_scheme":"Other"},{"subitem_subject":"一本鎖DNA修復","subitem_subject_scheme":"Other"},{"subitem_subject":"ノックアウトマウス","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":"一本鎖DNA修復異常症SCAN1の神経変性機構の解明","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"一本鎖DNA修復異常症SCAN1の神経変性機構の解明"}]},"item_type_id":"8","owner":"3","path":["80"],"pubdate":{"attribute_name":"公開日","attribute_value":"2014-12-22"},"publish_date":"2014-12-22","publish_status":"0","recid":"861","relation_version_is_last":true,"title":["一本鎖DNA修復異常症SCAN1の神経変性機構の解明"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-12-25T07:18:56.565006+00:00"}