{"created":"2023-07-25T08:14:11.725391+00:00","id":15174,"links":{},"metadata":{"_buckets":{"deposit":"a368cd98-009e-4693-8789-23e4aa599e80"},"_deposit":{"created_by":29,"id":"15174","owners":[29],"pid":{"revision_id":0,"type":"depid","value":"15174"},"status":"published"},"_oai":{"id":"oai:ir.kagoshima-u.ac.jp:00015174","sets":["57:86"]},"author_link":["135816"],"item_5_date_6":{"attribute_name":"作成日","attribute_value_mlt":[{"subitem_date_issued_datetime":"2020-03-06","subitem_date_issued_type":"Collected"}]},"item_5_date_granted_54":{"attribute_name":"学位授与年月日 ","attribute_value_mlt":[{"subitem_dategranted":"2020-03-25"}]},"item_5_degree_grantor_53":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_language":"ja","subitem_degreegrantor_name":"鹿児島大学"}],"subitem_degreegrantor_identifier":[{"subitem_degreegrantor_identifier_name":"17701","subitem_degreegrantor_identifier_scheme":"kakenhi"}]}]},"item_5_degree_name_42":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士(医学)","subitem_degreename_language":"ja"},{"subitem_degreename":"Doctor of Philosophy in Medical Science","subitem_degreename_language":"en"}]},"item_5_description_17":{"attribute_name":"ファイル（説明）","attribute_value_mlt":[{"subitem_description":"博士論文全文, 博士論文要旨, 最終試験結果の要旨, 論文審査の要旨","subitem_description_language":"ja","subitem_description_type":"Other"}]},"item_5_description_4":{"attribute_name":"要約(Abstract)","attribute_value_mlt":[{"subitem_description":"Objective\nTo identify mutations in vacuolar protein sorting 13A (VPS13A) for Japanese patients with suspected chorea-acanthocytosis (ChAc).\nMethods\nWe performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis of the VPS13A gene, and chorein Western blotting of erythrocyte ghosts. As the results of the analysis, 17 patients were molecularly diagnosed with ChAc. In addition, we investigated the distribution of VPS13A gene mutations and clinical symptoms in a total of 39 molecularly diagnosed Japanese patients with ChAc, including 22 previously reported cases.\nResults\nWe identified 11 novel pathogenic mutations, including 1 novel CNV. Excluding 5 patients with the unknown symptoms, 97.1% of patients displayed various neuropsychiatric symptoms or forms of cognitive dysfunction during the course of disease. The patients carrying the 2 major mutations representing over half of the mutations, exon 60–61 deletion and exon 37 c.4411C>T (R1471X), were localized in western Japan.\nConclusions\nWe identified 13 different mutations in VPS13A, including 11 novel mutations, and verified the clinical manifestations in 39 Japanese patients with ChAc.\n\nYoshiaki Nishida, Masayuki Nakamura, Yuka Urata, Kei Kasamo, Hanae Hiwatashi, Izumi Yokoyama, Masahiro Mizobuchi, Kotaro Sakurai, Yasushi Osaki, Yukari Morita, Masako Watanabe, Kenji Yoshida, Kiyomi Yamane, Natsuki Miyakoshi, Ryouichi Okiyama, Takehiro Ueda, Noritaka Wakasugi, Yuji Saitoh, Takashi Sakamoto, Yuji Takahashi, Ken Shibano, Hideki Tokuoka, Atsushi Hara, Kazunari Monma, Katsuhisa Ogata, Keita Kakuda, Hideki Mochizuki, Takeo Arai, Manabu Araki, Takeshi Fujii, Kazuto Tsukita, Haruhi Sakamaki-Tsukita and Akira Sano\nNovel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis\nNeurology Genetics 2019;5:e332.\nhttps://doi.org/10.1212/NXG.0000000000000332","subitem_description_language":"en","subitem_description_type":"Other"}]},"item_5_dissertation_number_55":{"attribute_name":"学位授与番号","attribute_value_mlt":[{"subitem_dissertationnumber":"甲総研第544号"}]},"item_5_publisher_23":{"attribute_name":"公開者・出版者","attribute_value_mlt":[{"subitem_publisher":"American Academy of Neurology","subitem_publisher_language":"en"},{"subitem_publisher":"鹿児島大学","subitem_publisher_language":"ja"}]},"item_5_subject_15":{"attribute_name":"NDC","attribute_value_mlt":[{"subitem_subject":"490","subitem_subject_scheme":"NDC"}]},"item_5_text_44":{"attribute_name":"備考","attribute_value_mlt":[{"subitem_text_language":"ja","subitem_text_value":"【指導教員:浅川明弘】"}]},"item_5_text_47":{"attribute_name":"date.appl","attribute_value_mlt":[{"subitem_text_value":"【学位申請日】2019-05-08"}]},"item_5_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_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"西田, 佳晃","creatorNameLang":"ja"},{"creatorName":"ニシダ, ヨシアキ","creatorNameLang":"ja-Kana"},{"creatorName":"Nishida, Yoshiaki","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"135816","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":"2021-07-02"}],"displaytype":"detail","fileDate":[{"fileDateType":"Collected","fileDateValue":"2020-03-06"}],"filename":"Diss_西田_佳晃_ISK544_2019.pdf","filesize":[{"value":"370.2 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"Diss_西田_佳晃_ISK544_2019","objectType":"fulltext","url":"https://ir.kagoshima-u.ac.jp/record/15174/files/Diss_西田_佳晃_ISK544_2019.pdf"},"version_id":"67cb9004-1227-4a8a-b5ee-49b0d127bf2a"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2021-07-02"}],"displaytype":"detail","fileDate":[{"fileDateType":"Collected","fileDateValue":"2020-03-06"}],"filename":"Abstract_西田_佳晃_4516800122_2019.pdf","filesize":[{"value":"195.1 kB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"label":"Abstract_西田_佳晃_4516800122_2019","objectType":"abstract","url":"https://ir.kagoshima-u.ac.jp/record/15174/files/Abstract_西田_佳晃_4516800122_2019.pdf"},"version_id":"1a30ef09-0492-4804-9d96-b7f5c7064407"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-05-21"}],"displaytype":"detail","fileDate":[{"fileDateType":"Collected","fileDateValue":"2020-03-06"}],"filename":"Result_Nishida_Yoshiaki_isk_544.pdf","filesize":[{"value":"215.3 kB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"label":"Result_Nishida_Yoshiaki_isk_544","objectType":"other","url":"https://ir.kagoshima-u.ac.jp/record/15174/files/Result_Nishida_Yoshiaki_isk_544.pdf"},"version_id":"b3ec3358-c6e2-46c8-93db-ffd932dad915"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-05-21"}],"displaytype":"detail","fileDate":[{"fileDateType":"Collected","fileDateValue":"2020-03-06"}],"filename":"Comments_Nishida_Yoshiaki_isk_544.pdf","filesize":[{"value":"98.3 kB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"label":"Comments_Nishida_Yoshiaki_isk_544","objectType":"other","url":"https://ir.kagoshima-u.ac.jp/record/15174/files/Comments_Nishida_Yoshiaki_isk_544.pdf"},"version_id":"48a93529-f8a9-41ec-932e-54b1ac0441b8"}]},"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":"doctoral thesis","resourceuri":"http://purl.org/coar/resource_type/c_db06"}]},"item_title":"Novel Pathogenic VPS13A Gene Mutations in Japanese Patients with Chorea-acanthocytosis","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Novel Pathogenic VPS13A Gene Mutations in Japanese Patients with Chorea-acanthocytosis","subitem_title_language":"en"},{"subitem_title":"日本人有棘赤血球舞踏病患者における VPS13A 遺伝子の新規疾患変異","subitem_title_language":"ja"}]},"item_type_id":"5","owner":"29","path":["86"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2020-05-21"},"publish_date":"2020-05-21","publish_status":"0","recid":"15174","relation_version_is_last":true,"title":["Novel Pathogenic VPS13A Gene Mutations in Japanese Patients with Chorea-acanthocytosis"],"weko_creator_id":"29","weko_shared_id":-1},"updated":"2025-08-28T05:34:25.016079+00:00"}