新生仔ゲノム編集治療によるプロテインC欠損マウスの治癒

• Material Type: 記事
• Title: 新生仔ゲノム編集治療によるプロテインC欠損マウスの治癒
• Author Heading: 冨樫 朋貴
• Publication Date: 2025
• Publication Date (W3CDTF): 2025
• Periodical title: 血栓止血誌
• No. or year of volume/issue: 36 4
• Volume: 36
• Issue: 4
• Pages: 545-551
• Publication date of volume/issue (W3CDTF): 2025
• ISSN (Periodical Title): 09157441
• ISSN-L (Periodical Title): 09157441
• Publication (Periodical Title): The Japanese Society on Thrombosis and Hemostasis
• Text Language Code: ja
• Subject Heading: gene therapy; genetic diseases; inborn; liver; thrombosis
• Target Audience: 一般
• DOI: 10.2491/jjsth.36.545; https://doi.org/10.2491/jjsth.36.545
• Related Material (URI): https://www.jstage.jst.go.jp/article/jjsth/36/4/36_2025_JJTH_36_4_545-551/_pdf; https://search.jamas.or.jp/link/ui/2025320593
• References: Cure of Congenital Purpura Fulminans via Expression of Engineered Protein C Through Neonatal Genome Editing in Mice; https://cir.nii.ac.jp/crid/1360305500208905472; Coupling AAV-mediated promoterless gene targeting to SaCas9 nuclease to efficiently correct liver metabolic diseases; https://cir.nii.ac.jp/crid/1360586974790079488; An AsCas12f-based compact genome-editing tool derived by deep mutational scanning and structural analysis; https://cir.nii.ac.jp/crid/1360863417634143360; Gla domain–mutated human protein C exhibiting enhanced anticoagulant activity and increased phospholipid binding; https://cir.nii.ac.jp/crid/1360868451701136128; INHERITED PROTEIN C DEFICIENCY AND COUMARIN-RESPONSIVE CHRONIC RELAPSING PURPURA FULMINANS IN A NEWBORN INFANT; https://cir.nii.ac.jp/crid/1361418518895468928; CRISPR/Cas9-mediated genome editing via postnatal administration of AAV vector cures haemophilia B mice; https://cir.nii.ac.jp/crid/1361699993727449856; Inactivation of the gene for anticoagulant protein C causes lethal perinatal consumptive coagulopathy in mice.; https://cir.nii.ac.jp/crid/1361699994027272832; Long‐term survival of a child with homozygous protein C deficiency successfully treated with living donor liver transplantation; https://cir.nii.ac.jp/crid/1363107369031839360; Direct detection of activated protein C in blood from human subjects; https://cir.nii.ac.jp/crid/1363670318937101696
• Data Provider (Database): 国立情報学研究所 : CiNii Research; https://cir.nii.ac.jp/
• Original Data Provider (Database): Japan Link Center; https://japanlinkcenter.org/top; Crossref; https://www.crossref.org

• Summary, etc.: <p>プロテインC（PC）をコードする<i>PROC</i>の両アレル異常は致死的な血栓症を引き起こす．PC欠損症の根治療法は未確立で，革新的な治療法の開発が待たれている．本研究では，ゲノム編集治療の有効性をマウスモデルで検証した．効率よく治療するために野生型PCを改変し，活性体として分泌させること...