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Hereditary cataract of the Nakano mouse: Involvement of a hypomorphic mutation in the coproporphyrinogen oxidase gene
http://hdl.handle.net/10091/17632
http://hdl.handle.net/10091/17632e63d4852-c5fb-4eb7-a5b5-b5b92750ed90
| 名前 / ファイル | ライセンス | アクション |
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Hereditary_cataract_Nakano_mouse.pdf (938.9 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||||||||||||
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| 公開日 | 2014-06-20 | |||||||||||||||
| タイトル | ||||||||||||||||
| タイトル | Hereditary cataract of the Nakano mouse: Involvement of a hypomorphic mutation in the coproporphyrinogen oxidase gene | |||||||||||||||
| 言語 | ||||||||||||||||
| 言語 | eng | |||||||||||||||
| DOI | ||||||||||||||||
| 関連識別子 | https://doi.org/10.1016/j.exer.2013.04.005 | |||||||||||||||
| 関連名称 | 10.1016/j.exer.2013.04.005 | |||||||||||||||
| キーワード | ||||||||||||||||
| 主題 | cataract, mouse model, gene cloning, mutation, coproporphyrin | |||||||||||||||
| 資源タイプ | ||||||||||||||||
| 資源 | http://purl.org/coar/resource_type/c_6501 | |||||||||||||||
| タイプ | journal article | |||||||||||||||
| 著者 |
Mori, Masayuki
× Mori, Masayuki
× Gotoh, Saki
× Taketani, Shigeru
× Hiai, Hiroshi
× Higuchi, Keiichi
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| 信州大学研究者総覧へのリンク | ||||||||||||||||
| 氏名 | Mori, Masayuki | |||||||||||||||
| URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.OpSCZafV.html | |||||||||||||||
| 信州大学研究者総覧へのリンク | ||||||||||||||||
| 氏名 | Higuchi, Keiichi | |||||||||||||||
| URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.gCfUPmAh.html | |||||||||||||||
| 出版者 | ||||||||||||||||
| 出版者 | ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD | |||||||||||||||
| 引用 | ||||||||||||||||
| 内容記述 | EXPERIMENTAL EYE RESEARCH. 112:45-50 (2013) | |||||||||||||||
| 書誌情報 |
EXPERIMENTAL EYE RESEARCH 巻 112, p. 45-50, 発行日 2013-06 |
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| 抄録 | ||||||||||||||||
| 内容記述 | The Nakano cataract (NCT) is a recessive disorder in the mouse linked to the nct locus on chromosome 16. In this study, we positionally cloned the critical gene in the nct locus. Herein, we report that cataracts in the BALB/c-nct/nct mouse are caused by a hypomorphic mutation in the coproporphyrin oxidase gene (Cpox), encoding the enzyme responsible for catalyzing oxidative decarboxylation of the heme precursor, coproporphyrinogen III, in the heme biosynthetic pathway. BALB/c-nct/nct mice are homozygous for a G to T nucleotide substitution in the Cpox gene, which results in a p.R380L amino acid substitution in the CPDX protein. The CPDX isoform with the p.R380L substitution retained only 15% of the activity of the wild type isoform. BALB/c-nct/nct mice had excessive accumulation of coproporphyrin HI in the lens. The NCT phenotype was normalized by the introduction of a wild type Cpox transgene. The mechanisms by which impairment of CPDX leads to lens opacity in the NCT are elusive. However, our data illuminate a hitherto unanticipated involvement of the heme biosynthesis pathway in lens physiology. | |||||||||||||||
| 資源タイプ（コンテンツの種類） | ||||||||||||||||
| ISSN | ||||||||||||||||
| 収録物識別子タイプ | PISSN | |||||||||||||||
| 収録物識別子 | 0014-4835 | |||||||||||||||
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| 収録物識別子タイプ | NCID | |||||||||||||||
| 収録物識別子 | AA00641055 | |||||||||||||||
| PubMed | ||||||||||||||||
| 識別子タイプ | PMID | |||||||||||||||
| 関連識別子 | https://pubmed.ncbi.nlm.nih.gov/23631845 | |||||||||||||||
| 関連名称 | 23631845 | |||||||||||||||
| 権利 | ||||||||||||||||
| 権利情報 | Copyright© 2013 Elsevier Ltd. | |||||||||||||||
| 出版タイプ | ||||||||||||||||
| 出版タイプ | AM | |||||||||||||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||||||||||||
| WoS | ||||||||||||||||
| URL | http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000321605100006 | |||||||||||||||
