{"created":"2024-10-25T10:13:29.502863+00:00","id":2003344,"links":{},"metadata":{"_buckets":{"deposit":"c018a704-0f5b-48aa-af4b-9cca0b2d1e0e"},"_deposit":{"created_by":7,"id":"2003344","owners":[7],"pid":{"revision_id":0,"type":"depid","value":"2003344"},"status":"published"},"_oai":{"id":"oai:tokushima-u.repo.nii.ac.jp:02003344","sets":["1713853213384:1713853296295:1716267876683:1716268551628"]},"author_link":["530","1622","1623"],"control_number":"2003344","item_10001_alternative_title_1":{"attribute_name":"タイトル別表記","attribute_value_mlt":[{"subitem_alternative_title":"近位筋優位運動感覚ニューロパチー(HMSN-P)患者iPS細胞から分化した神経細胞はプロテアソーム障害を認める","subitem_alternative_title_language":"ja"}]},"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2017-02-15","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"7","bibliographicVolumeNumber":"10","bibliographic_titles":[{"bibliographic_title":"Molecular Brain","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a heterozygous mutation (P285L) in Tropomyosin-receptor kinase Fused Gene (TFG), histopathologically characterized by progressive spinal motor neuron loss with TFG cytosolic aggregates. Although the TFG protein, found as a type of fusion oncoprotein, is known to facilitate vesicle transport from endoplasmic reticulum (ER) to Golgi apparatus at ER exit site, it is unclear how mutant TFG causes motor neuron degeneration. Here we generated induced pluripotent stem cells (iPSCs) from HMSN-P patients, and differentiated the iPSCs into neural cells with spinal motor neurons (iPS-MNs). We found that HMSN-P patient iPS-MNs exhibited ubiquitin proteasome system (UPS) impairment, and HMSN-P patient iPS-MNs were vulnerable to UPS inhibitory stress. Gene correction of the mutation in TFG using the CRISPR-Cas9 system reverted the cellular phenotypes of HMSN-P patient iPS-MNs. Collectively, these results suggest that our cellular model with defects in cellular integrity including UPS impairments may lead to identification of pathomechanisms and a therapeutic target for HMSN-P.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Springer nature","subitem_publisher_language":"en"}]},"item_10001_rights_15":{"attribute_name":"権利情報","attribute_value_mlt":[{"subitem_rights":"Copyright:©The Author(s). 2017 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver(http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.","subitem_rights_language":"en"}]},"item_10001_source_id_9":{"attribute_name":"収録物ID","attribute_value_mlt":[{"subitem_source_identifier":"17566606","subitem_source_identifier_type":"ISSN"}]},"item_10001_version_type_20":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_be7fb7dd8ff6fe43","subitem_version_type":"NA"}]},"item_1714461018643":{"attribute_name":"報告番号","attribute_value_mlt":[{"subitem_dissertationnumber":"甲第3094号"}]},"item_1714461102074":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士（医学）","subitem_degreename_language":"ja"}]},"item_1714461118377":{"attribute_name":"学位授与年月日","attribute_value_mlt":[{"subitem_dategranted":"2017-04-27"}]},"item_1714461137393":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_language":"ja","subitem_degreegrantor_name":"徳島大学"}]}]},"item_1715043197608":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access"}]},"item_1718868208704":{"attribute_name":"備考","attribute_value_mlt":[{"subitem_textarea_language":"ja","subitem_textarea_value":"内容要旨・審査要旨・論文本文の公開：\n内容要旨・審査要旨：LID201705291003.pdf\n論文本文：LID201705291004.pdf\n本論文は, 著者Nagahisa Murakamiの学位論文として提出され, 学位審査・授与の対象となっている。\n学位授与者所属 : 徳島大学大学院医科学教育部（医学専攻）"}]},"item_1718868303842":{"attribute_name":"学位記番号","attribute_value_mlt":[{"subitem_text_language":"ja","subitem_text_value":"甲医第1338号"}]},"item_1722929371688":{"attribute_name":"出版社版DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_language":"ja","subitem_relation_name_text":"10.1186/s13041-017-0286-y"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1186/s13041-017-0286-y","subitem_relation_type_select":"DOI"}}]},"item_1723180141928":{"attribute_name":"EID","attribute_value_mlt":[{"subitem_identifier_type":"URI","subitem_identifier_uri":"328801"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"村上, 永尚","creatorNameLang":"ja"},{"creatorName":"ムラカミ, ナガヒサ","creatorNameLang":"ja-Kana"},{"creatorName":"Murakami, Nagahisa","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"イマムラ, ケイコ","creatorNameLang":"ja"},{"creatorName":"イマムラ, ケイコ","creatorNameLang":"ja-Kana"},{"creatorName":"Imamura, Keiko","creatorNameLang":"en"}]},{"creatorAffiliations":[{"affiliationNameIdentifiers":[{"affiliationNameIdentifier":"","affiliationNameIdentifierScheme":"ISNI","affiliationNameIdentifierURI":"http://www.isni.org/isni/"}],"affiliationNames":[{"affiliationName":"","affiliationNameLang":"ja"}]}],"creatorNames":[{"creatorName":"和泉, 唯信","creatorNameLang":"ja"},{"creatorName":"イズミ, ユイシン","creatorNameLang":"ja-Kana"},{"creatorName":"Izumi, Yuishin","creatorNameLang":"en"}],"familyNames":[{"familyName":"和泉","familyNameLang":"ja"},{"familyName":"イズミ","familyNameLang":"ja-Kana"},{"familyName":"Izumi","familyNameLang":"en"}],"givenNames":[{"givenName":"唯信","givenNameLang":"ja"},{"givenName":"ユイシン","givenNameLang":"ja-Kana"},{"givenName":"Yuishin","givenNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"1623","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"60227/profile-ja.html","nameIdentifierScheme":"徳島大学 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Ryuji","creatorNameLang":"en"}],"familyNames":[{"familyName":"梶","familyNameLang":"ja"},{"familyName":"カジ","familyNameLang":"ja-Kana"},{"familyName":"Kaji","familyNameLang":"en"}],"givenNames":[{"givenName":"龍兒","givenNameLang":"ja"},{"givenName":"リュウジ","givenNameLang":"ja-Kana"},{"givenName":"Ryuji","givenNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"1622","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"60224/profile-ja.html","nameIdentifierScheme":"徳島大学 教育研究者総覧","nameIdentifierURI":"http://pub2.db.tokushima-u.ac.jp/ERD/person/60224/profile-ja.html"},{"nameIdentifier":"00214304","nameIdentifierScheme":"e-Rad","nameIdentifierURI":"https://nrid.nii.ac.jp/ja/search/?qm=00214304"}]},{"creatorNames":[{"creatorName":"イノウエ, ハルヒサ","creatorNameLang":"ja"},{"creatorName":"イノウエ, ハルヒサ","creatorNameLang":"ja-Kana"},{"creatorName":"Inoue, Haruhisa","creatorNameLang":"en"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2017-05-29"}],"displaytype":"detail","filename":"LID201705291003.pdf","filesize":[{"value":"398 KB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"objectType":"abstract","url":"https://tokushima-u.repo.nii.ac.jp/record/2003344/files/LID201705291003.pdf"},"version_id":"36168287-301a-4928-b7fc-2fea6dc229c9"},{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2017-05-29"}],"displaytype":"detail","filename":"LID201705291004.pdf","filesize":[{"value":"6.37 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correction","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"CRISPR-Cas9","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Neurodegeneration","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"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":"Proteasome impairment in neural cells derived from HMSN-P patient iPSCs","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Proteasome impairment in neural cells derived from HMSN-P patient iPSCs","subitem_title_language":"en"}]},"item_type_id":"40001","owner":"7","path":["1716268551628"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2017-05-29"},"publish_date":"2017-05-29","publish_status":"0","recid":"2003344","relation_version_is_last":true,"title":["Proteasome impairment in neural cells derived from HMSN-P patient iPSCs"],"weko_creator_id":"7","weko_shared_id":-1},"updated":"2025-04-28T07:16:16.031922+00:00"}