{"_buckets": {"deposit": "d337068d-78cb-4119-b5a1-88a91435034f"}, "_deposit": {"id": "12829", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "12829"}, "status": "published"}, "_oai": {"id": "oai:niigata-u.repo.nii.ac.jp:00012829", "sets": ["456", "1033"]}, "item_7_alternative_title_1": {"attribute_name": "その他のタイトル", "attribute_value_mlt": [{"subitem_alternative_title": "Functional Analyses of Aprataxin (APTX), The Causative Protein for Early Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia, in DNA Single-strand Break Repair"}]}, "item_7_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2004-11", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "11", "bibliographicPageEnd": "639", "bibliographicPageStart": "632", "bibliographicVolumeNumber": "118", "bibliographic_titles": [{"bibliographic_title": "新潟医学会雑誌"}, {"bibliographic_title": "新潟医学会雑誌", "bibliographic_titleLang": "en"}]}]}, "item_7_description_4": {"attribute_name": "抄録", "attribute_value_mlt": [{"subitem_description": "眼球運動失行,低アミブミン血症を伴う早期発症型失調症は,発症初期に眼球運動失行を伴い,進行期に低アルブミン血症を合併する常染色体劣性遺伝性神経疾患である.EAOHの原因遺伝子aorataxin(APTX)はホモロジー解析および蛋白相互作用の研究結果より一本鎖DNA修復(DNA single-strand break repair;SSBR)との関連が推測されている.APTXがSSBRに関連する活性をもつか否かを解明する目的で,一本鎖DNA修復再構成モデルを構築した.SSBR関連の組換えタンパク質polynucleotide kinase 3\u0027-phosphatase(PNKP),DNA poly-merase beta(Polβ),DNA ligase III(Lig3)およびAPTXを発現精製し,蛍光ラベル合成オリゴヌクレオチドを用いて作成した一ヌクレオチド欠乏を伴った二本鎖DNAモデルを用い,自動シークエンサーで5\u0027-kinase活性,3\u0027-phosphatase活性およびSSBR活性を測定した.APTX自体が5\u0027-kinase活性,3\u0027-phosphatase活性を有することを証明し,組換えPolβ,Lig3タンパク質と反応することによりin vitroにてSSBRを再構築できた.APTXはPNKPと同様に5\u0027-kinase活性,3\u0027-phosphatase活性を有し,SSBRに関連するDNA修復関連酵素と考えられ,DNA損傷修復障害と神経変性の関連を解く重要な所見と考えられる.", "subitem_description_type": "Abstract"}]}, "item_7_publisher_7": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "新潟医学会"}]}, "item_7_select_19": {"attribute_name": "著者版フラグ", "attribute_value_mlt": [{"subitem_select_item": "publisher"}]}, "item_7_source_id_11": {"attribute_name": "書誌レコードID", "attribute_value_mlt": [{"subitem_source_identifier": "AN00182415", "subitem_source_identifier_type": "NCID"}]}, "item_7_source_id_9": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "00290440", "subitem_source_identifier_type": "ISSN"}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "高橋, 哲哉"}], "nameIdentifiers": [{"nameIdentifier": "85134", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "ファイル情報", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2019-08-07"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "KJ00004300785.pdf", "filesize": [{"value": "1.1 MB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 1100000.0, "url": {"label": "KJ00004300785.pdf", "url": "https://niigata-u.repo.nii.ac.jp/record/12829/files/KJ00004300785.pdf"}, "version_id": "9b66eade-1004-4ab3-bd19-e6f405d19690"}]}, "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": "departmental bulletin paper", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "眼球運動失行と低アルブミン血症を伴う早発型失調症の原因タンパク質aprataxin(APTX)の機能解析", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "眼球運動失行と低アルブミン血症を伴う早発型失調症の原因タンパク質aprataxin(APTX)の機能解析"}, {"subitem_title": "眼球運動失行と低アルブミン血症を伴う早発型失調症の原因タンパク質aprataxin(APTX)の機能解析", "subitem_title_language": "en"}]}, "item_type_id": "7", "owner": "1", "path": ["456", "1033"], "permalink_uri": "http://hdl.handle.net/10191/4024", "pubdate": {"attribute_name": "公開日", "attribute_value": "2007-05-10"}, "publish_date": "2007-05-10", "publish_status": "0", "recid": "12829", "relation": {}, "relation_version_is_last": true, "title": ["眼球運動失行と低アルブミン血症を伴う早発型失調症の原因タンパク質aprataxin(APTX)の機能解析"], "weko_shared_id": null}