{"created":"2024-10-30T09:32:55.557205+00:00","id":2007546,"links":{},"metadata":{"_buckets":{"deposit":"a763c189-ccba-4f3a-943c-d88f89faba00"},"_deposit":{"created_by":7,"id":"2007546","owners":[7],"pid":{"revision_id":0,"type":"depid","value":"2007546"},"status":"published"},"_oai":{"id":"oai:tokushima-u.repo.nii.ac.jp:02007546","sets":["1713853213384:1713853295607"]},"author_link":["403"],"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2020-03-11","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4","bibliographicPageEnd":"888","bibliographicPageStart":"883","bibliographicVolumeNumber":"525","bibliographic_titles":[{"bibliographic_title":"Biochemical and Biophysical Research Communications","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"CLN6, spanning the endoplasmic reticulum transmembrane, is a protein of unknown function. Mutations in the CLN6 gene are linked to an autosomal recessively inherited disorder termed CLN6 disease, classified as a form of the neuronal ceroid lipofuscinoses (NCL). The pathogenesis of CLN6 disease remains poorly understood due to a lack of information about physiological roles CLN6 plays. We previously demonstrated that CLN6 has the ability to prevent protein aggregate formation, and thus hypothesized that the abrogation of CLN6’s anti-aggregate activity underlies the development of CLN6 disease. To test this hypothesis, we narrowed down the region vital for CLN6’s anti-aggregate activity, and subsequently investigated if pathogenic mutations within the region attenuate CLN6’s anti-aggregate activity toward four aggregation-prone αB-crystallin (αBC) mutants. None of the four αBC mutants was prevented from aggregating by the Arg106ProfsX truncated CLN6 mutant, the human counterpart of the nclf mutant identified in a naturally occurring mouse model of late infantile-onset CLN6 disease. In contrast, the Arg149Cys and the Arg149His CLN6 mutants, both associated with adult-onset CLN6 disease, blocked aggregation of two out of and all of the four αBC mutants, respectively, indicating that CLN6’s anti-aggregate activity is differentially modulated according to the substitution pattern at the same amino acid position. Collectively, we here propose that the graded reduction in CLN6’s anti-aggregate activity governs the clinical course of late infantile- and adult- onset NCL.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Elsevier","subitem_publisher_language":"en"}]},"item_10001_rights_15":{"attribute_name":"権利情報","attribute_value_mlt":[{"subitem_rights":"© 2020. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/","subitem_rights_language":"en"}]},"item_10001_source_id_9":{"attribute_name":"収録物ID","attribute_value_mlt":[{"subitem_source_identifier":"0006291X","subitem_source_identifier_type":"ISSN"},{"subitem_source_identifier":"AA00564395","subitem_source_identifier_type":"NCID"},{"subitem_source_identifier":"AA11542044","subitem_source_identifier_type":"NCID"}]},"item_10001_version_type_20":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_1715043197608":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open 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ユリ","creatorNameLang":"ja"},{"creatorName":"ヒラキ, ユリ","creatorNameLang":"ja-Kana"},{"creatorName":"Hiraki, Yuri","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"ユジリ, タカトシ","creatorNameLang":"ja"},{"creatorName":"ユジリ, タカトシ","creatorNameLang":"ja-Kana"},{"creatorName":"Yujiri, Takatoshi","creatorNameLang":"en"}]},{"creatorAffiliations":[{"affiliationNameIdentifiers":[{"affiliationNameIdentifier":"","affiliationNameIdentifierScheme":"ISNI","affiliationNameIdentifierURI":"http://www.isni.org/isni/"}],"affiliationNames":[{"affiliationName":"","affiliationNameLang":"ja"}]}],"creatorNames":[{"creatorName":"山﨑, 哲男","creatorNameLang":"ja"},{"creatorName":"ヤマザキ, テツオ","creatorNameLang":"ja-Kana"},{"creatorName":"Yamazaki, Tetsuo","creatorNameLang":"en"}],"familyNames":[{"familyName":"山﨑","familyNameLang":"ja"},{"familyName":"ヤマザキ","familyNameLang":"ja-Kana"},{"familyName":"Yamazaki","familyNameLang":"en"}],"givenNames":[{"givenName":"哲男","givenNameLang":"ja"},{"givenName":"テツオ","givenNameLang":"ja-Kana"},{"givenName":"Tetsuo","givenNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"403","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"201602/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/201602/profile-ja.html"},{"nameIdentifier":"90330208","nameIdentifierScheme":"e-Rad","nameIdentifierURI":"https://nrid.nii.ac.jp/ja/search/?qm=90330208"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2021-03-11"}],"displaytype":"detail","filename":"bbrc_525_4_883.pdf","filesize":[{"value":"1020 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for the development of the neuronal ceroid lipofuscinoses","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Implications of graded reductions in CLN6’s anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses","subitem_title_language":"en"}]},"item_type_id":"40001","owner":"7","path":["1713853295607"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2020-05-11"},"publish_date":"2020-05-11","publish_status":"0","recid":"2007546","relation_version_is_last":true,"title":["Implications of graded reductions in CLN6’s anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses"],"weko_creator_id":"7","weko_shared_id":-1},"updated":"2025-02-04T06:04:04.089564+00:00"}