{"created":"2023-06-19T07:25:33.057859+00:00","id":13441,"links":{},"metadata":{"_buckets":{"deposit":"74ca7b6b-33d4-4873-8374-eba41b864762"},"_deposit":{"created_by":59,"id":"13441","owners":[59],"pid":{"revision_id":0,"type":"depid","value":"13441"},"status":"published"},"_oai":{"id":"oai:gifu-pu.repo.nii.ac.jp:00013441","sets":["212:264:300"]},"author_link":["21605","21610","21609","21608","21607","21606"],"item_3_biblio_info_3":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2019-03-05","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2","bibliographicPageEnd":"308","bibliographicPageStart":"303","bibliographicVolumeNumber":"510","bibliographic_titles":[{"bibliographic_title":"Biochemical and biophysical research communications"},{"bibliographic_title":"Biochemical and biophysical research communications","bibliographic_titleLang":"en"}]}]},"item_3_text_4":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_text_value":"10.1016/j.bbrc.2019.01.096 "}]},"item_3_textarea_2":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_textarea_value":"Idiopathic Basal Ganglia Calcification (IBGC) is a rare neuropsychiatric illness \nalso known as Fahr's disease or Primary Familial Brain Calcification (PFBC). IBGC\nis caused by SLC20A2 variants, which encodes the inorganic phosphate (Pi)\ntransporter PiT-2, a transmembrane protein associated with Pi homeostasis. We\nhave reported novel SLC20A2 variants in the Japanese population and established\nan induced pluripotent stem cells (iPSCs) from an IBGC patient carrying a SLC20A2\nvariant. To investigate the effect of these SLC20A2 variants identified in our\nprevious study, we used Chinese hamster ovary (CHO) cells expressing these\nvariant proteins using the Flp-In system (Flp-In CHO cells), and showed that\nvariant SLC20A2 proteins significantly disrupted the Pi transport activity in\nFlp-In CHO cells. Endothelial cells (ECs) represent important target cells for\nelucidating the pathology of IBGC. Using patient-derived iPSCs in this study, we \ndifferentiated these cells into ECs and found no significant difference in their \ndifferentiation capacity into ECs compared with control iPSCs. However, the Pi\ntransport activity of IBGC patient-derived iPS-ECs was significantly decreased\ncompared with that of control iPS-ECs without changing the gene expression of the\nother SLC 20 family members. We confirmed that SLC20A2 variants caused the loss\nof function of the Pi transport activity in both Flp-In CHO cells and\ndisease-specific iPSCs. This is the first report to show an in vitro model of\niPSCs in IBGC with patient-identified SLC20A2 variants. These useful tools will\nhelp in elucidating IBGC pathogenesis and can be used for screening drug\ncandidates."}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"metadata only access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_14cb"}]},"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":"SLC20A2 variants cause dysfunctional phosphate transport activity in endothelial cells induced from Idiopathic Basal Ganglia Calcification patients-derived iPSCs.","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"SLC20A2 variants cause dysfunctional phosphate transport activity in endothelial cells induced from Idiopathic Basal Ganglia Calcification patients-derived iPSCs."},{"subitem_title":"SLC20A2 variants cause dysfunctional phosphate transport activity in endothelial cells induced from Idiopathic Basal Ganglia Calcification patients-derived iPSCs.","subitem_title_language":"en"}]},"item_type_id":"3","owner":"59","path":["300"],"pubdate":{"attribute_name":"公開日","attribute_value":"2019-03-04"},"publish_date":"2019-03-04","publish_status":"0","recid":"13441","relation_version_is_last":true,"title":["SLC20A2 variants cause dysfunctional phosphate transport activity in endothelial cells induced from Idiopathic Basal Ganglia Calcification patients-derived iPSCs."],"weko_creator_id":"59","weko_shared_id":-1},"updated":"2023-06-19T08:48:47.994526+00:00"}