{"created":"2025-05-23T07:18:14.457065+00:00","id":2000104,"links":{},"metadata":{"_buckets":{"deposit":"753dffd7-253d-4245-aa00-72f5ea2f25e8"},"_deposit":{"created_by":15,"id":"2000104","owner":"15","owners":[15],"pid":{"revision_id":0,"type":"depid","value":"2000104"},"status":"published"},"_oai":{"id":"oai:tohoku-mpu.repo.nii.ac.jp:02000104","sets":["3:1747974702055"]},"author_link":[],"control_number":"2000104","item_10002_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2024-12","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"71","bibliographicPageEnd":"8","bibliographicPageStart":"1","bibliographic_titles":[{"bibliographic_title":"東北医科薬科大学研究誌","bibliographic_titleLang":"ja"},{"bibliographic_title":"Journal of Tohoku Medical and Pharmaceutical University","bibliographic_titleLang":"en"}]}]},"item_10002_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Glycosphingolipids are composed of a hydrophobic ceramide portion, in which a fatty acid is bound to a long-chain base called sphingosine, and a hydrophilic sugar portion. Sialic acid-containing glycosphingolipids, called gangliosides, are abundant in the central nervous system, and four species GM1, GD1a, GD1b, and GT1b are predominant in mammalian brains. Both GM3 synthase and GM2/GD2 synthase are essential for the biosynthesis of these four major species. Pathogenic mutations in the genes encoding GM3 synthase（ST3GAL5）and GM2/GD2 synthase（B4GALNT1）are the cause of infantile-onset epilepsy syndrome associated with developmental regression as well as abnormal movements and blindness, and SPG26, a complicated form of hereditary spastic paraplegia associated with intellectual disability and peripheral neuropathy, respectively. In this review, the author summarizes the current understanding of the pathophysiology of glycolipid biosynthesis disorders based on the results of studies using gene knockout mice, and introduces the first cases of ST3GAL5 and B4GALNT1 gene mutations in Japan that have recently been identified in patients with neurological disorders.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10002_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"東北医科薬科大学","subitem_publisher_language":"ja"}]},"item_10002_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA12790664","subitem_source_identifier_type":"NCID"}]},"item_10002_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2432-5724","subitem_source_identifier_type":"PISSN"}]},"item_10002_version_type_20":{"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":"稲森, 啓一郎","creatorNameLang":"ja"},{"creatorName":"イナモリ, ケイイチロウ","creatorNameLang":"ja-Kana"},{"creatorName":"Inamori, Kei-ichiro","creatorNameLang":"en"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2025-05-26"}],"displaytype":"detail","filename":"71_02_総説1.pdf","filesize":[{"value":"1.6 MB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"label":"糖脂質合成に関わる糖転移酵素遺伝子の変異と生合成不全症","objectType":"fulltext","url":"https://tohoku-mpu.repo.nii.ac.jp/record/2000104/files/71_02_総説1.pdf"},"version_id":"47914892-8eca-4394-a067-0237270467c9"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"glycosphingolipids","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"gangliosides","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"glycosyltransferase","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"GM3 synthase deficiency","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"hereditary spastic paraplegia SPG26","subitem_subject_language":"en","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":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"糖脂質合成に関わる糖転移酵素遺伝子の変異と生合成不全症","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"糖脂質合成に関わる糖転移酵素遺伝子の変異と生合成不全症","subitem_title_language":"ja"},{"subitem_title":"Mutations in the glycosyltransferase genes involved in glycolipid synthesis and disorders of the biosynthesis","subitem_title_language":"en"}]},"item_type_id":"10002","owner":"15","path":["1747974702055"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2025-05-26"},"publish_date":"2025-05-26","publish_status":"0","recid":"2000104","relation_version_is_last":true,"title":["糖脂質合成に関わる糖転移酵素遺伝子の変異と生合成不全症"],"weko_creator_id":"15","weko_shared_id":-1},"updated":"2025-05-27T00:18:41.342030+00:00"}