{"created":"2023-07-25T10:22:24.037426+00:00","id":1755,"links":{},"metadata":{"_buckets":{"deposit":"a4015a16-46a7-4ae8-bcd3-497a48cf6807"},"_deposit":{"created_by":3,"id":"1755","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"1755"},"status":"published"},"_oai":{"id":"oai:air.repo.nii.ac.jp:00001755","sets":["611:862:863:895"]},"author_link":["6429","6428","6430"],"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2011-03-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"3/4","bibliographicPageEnd":"133","bibliographicPageStart":"123","bibliographicVolumeNumber":"37","bibliographic_titles":[{"bibliographic_title":"秋田医学"}]}]},"item_10001_description_5":{"attribute_name":"内容記述（抄録）","attribute_value_mlt":[{"subitem_description":"Types A and B Niemann-Pick disease (NPD) comprise an autosomal recessive disorder caused by a deficiency of lysosomal acid sphingomyelinase (ASM), which leads to the intracellular accumulation of sphingomyelin and cholesterol and results in abnormalities of lipid metabolism. We report two patients with types A and B NPD showing low levels of high-density lipoprotein (HDL) cholesterol in their sera. Three novel mutations, c.567delT, c.575delC, and c.1481-9T>G, and a known mutation, c.691T>C, of the ASM gene were identified in the patients. The c.691T>C mutation is a unique genotype related to a very mild phenotype of type B NPD in the Japanese population. Next, the mRNA expressions of 4 ATP-binding cassette (ABC) transporters related to lipid metabolism, ABCA1, ABCA3, ABCA7, and ABCG1, were analyzed in fibroblasts with types A and B NPD by real-time RT-PCR using hybridization probes. In the analyses, the mRNA levels of ABCG1 were significantly decreased in the fibroblasts of types A and B NPD. The decreased protein level of ABCG1 was also confirmed by Western blot in a fibroblast of type B NPD. The results suggest that secondary dysfunction of ABCG1 may cause an impairment of cholesterol efflux in the peripheral cells, leading to the low plasma levels of HDL cholesterol in types A and B NPD. ABCG1 is a liver-X-receptor (LXR) target gene involved in cholesterol efflux to HDL, therefore LXR agonist treatment resulted in the reduction of cholesterol and sphingomyelin storage in the fibroblasts of type B NPD.","subitem_description_type":"Other"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"秋田医学会"}]},"item_10001_source_id_11":{"attribute_name":"NCID","attribute_value_mlt":[{"subitem_source_identifier":"AN00009294","subitem_source_identifier_type":"NCID"}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"03866106","subitem_source_identifier_type":"ISSN"}]},"item_10001_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_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Hirai, Daishi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Narita, Ayuko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takahashi, Tsutomu"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-02-16"}],"displaytype":"detail","filename":"akitai37(123).pdf","filesize":[{"value":"1.3 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"akitai37(123).pdf","url":"https://air.repo.nii.ac.jp/record/1755/files/akitai37(123).pdf"},"version_id":"0e2f15a2-ce7a-4b19-be7d-597915bf8296"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Types A and B Niemann-Pick disease","subitem_subject_scheme":"Other"},{"subitem_subject":"ABC transporters","subitem_subject_scheme":"Other"},{"subitem_subject":"low HDL cholesterol","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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"ATP-BINDING CASSETTE (ABC) TRANSPORTER GENESIN FIBROBLASTS WITH TYPES A AND B NIEMANN-PICK DISEASE","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"ATP-BINDING CASSETTE (ABC) TRANSPORTER GENESIN FIBROBLASTS WITH TYPES A AND B NIEMANN-PICK DISEASE"}]},"item_type_id":"10001","owner":"3","path":["895"],"pubdate":{"attribute_name":"公開日","attribute_value":"2011-12-02"},"publish_date":"2011-12-02","publish_status":"0","recid":"1755","relation_version_is_last":true,"title":["ATP-BINDING CASSETTE (ABC) TRANSPORTER GENESIN FIBROBLASTS WITH TYPES A AND B NIEMANN-PICK DISEASE"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-07-25T11:33:59.678813+00:00"}