WEKO3
アイテム
McLeod症候群のXK新規変異とXKタンパクとchoreinの相互作用
http://hdl.handle.net/10232/00030799
http://hdl.handle.net/10232/00030799f4abfc2f-c601-462d-9000-c021b4e48148
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
Diss_浦田_結嘉_ISK519_2019 (454.1 kB)
|
.png)
|
|
|
Abstract_浦田_結嘉_4514800025_2019 (73.7 kB)
|
|
|
|
Result_Urata_Yuka_isk_519 (998.5 kB)
|
|
|
|
Comments_Urata_Yuka_isk_519 (531.2 kB)
|
|
| Item type | 学位論文 / Thesis or Dissertation(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2019-10-08 | |||||
| タイトル | ||||||
| タイトル | Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein | |||||
| タイトル言語 | en | |||||
| タイトル | ||||||
| タイトル | McLeod症候群のXK新規変異とXKタンパクとchoreinの相互作用 | |||||
| タイトル言語 | ja | |||||
| 著者 |
浦田, 結嘉
× 浦田, 結嘉 |
|||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||
| 資源タイプ | doctoral thesis | |||||
| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| 要約 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Objective: To identify XK pathologic mutations in 6 patients with suspected McLeod syndrome (MLS) and a possible interaction between the chorea-acanthocytosis (ChAc)- and MLS-responsible proteins: chorein and XK protein. Methods: Erythrocyte membrane proteins from patients with suspected MLS and patients with ChAc, ChAc mutant carriers, and normal controls were analyzed by XK and chorein immunoblotting. We performed mutation analysis and XK immunoblotting to molecularly diagnose the patients with suspected MLS. Lysates of cultured cells were co-immunoprecipitated with anti-XK and anti-chorein antibodies. Results: All suspected MLS cases were molecularly diagnosed with MLS, and novel mutations were identified. The average onset age was 46.8 ± 8 years, which was older than that of the patients with ChAc. The immunoblot analysis revealed remarkably reduced chorein immunoreactivity in all patients with MLS. The immunoprecipitation analysis indicated a direct or indirect chorein-XK interaction. Conclusions: In this study, XK pathogenic mutations were identified in all 6 MLS cases, including novel mutations. Chorein immunoreactions were significantly reduced in MLS erythrocyte membranes. In addition, we demonstrated a possible interaction between the chorein and XK protein via molecular analysis. The reduction in chorein expression is similar to that between Kell antigens and XK protein, although the chorein-XK interaction is a possibly noncovalent binding unlike the covalent Kell-XK complex. Our results suggest that reduced chorein levels following lack of XK protein are possibly associated with molecular pathogenesis in MLS. |
|||||
| 内容記述言語 | en | |||||
| 収録雑誌名 |
en : Neurology: Genetics 巻 5, 号 3, 発行日 2019 |
|||||
| 作成日 | ||||||
| 日付 | 2019-09-06 | |||||
| 日付タイプ | Collected | |||||
| DOI | ||||||
| 識別子タイプ | DOI | |||||
| DOI | 10.1212/NXG.0000000000000328 | |||||
| 権利 | ||||||
| 権利情報の言語 | en | |||||
| 権利情報 | © The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the 2019 American Academy of Neurology. | |||||
| 情報源 | ||||||
| 識別子タイプ | URI | |||||
| 関連識別子 | https://ng.neurology.org/ | |||||
| 関連名称 | Neurology: Genetics | |||||
| 出版タイプ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| NDC | ||||||
| 主題Scheme | NDC | |||||
| 主題 | 490 | |||||
| ファイル（説明） | ||||||
| 内容記述 | 博士論文全文, 博士論文要旨, 最終試験結果の要旨, 論文審査の要旨 | |||||
| 公開者・出版者 | ||||||
| 出版者 | Lippincott Williams and Wilkins | |||||
| 出版者言語 | en | |||||
| 公開者・出版者 | ||||||
| 出版者 | 鹿児島大学 | |||||
| 出版者言語 | ja | |||||
| 公開者・出版者 | ||||||
| 出版者 | カゴシマ ダイガク | |||||
| 出版者言語 | ja-Kana | |||||
| 備考 | ||||||
| 備考 | 【指導教員:佐野輝,浅川明弘】 | |||||
| date.appl | ||||||
| appl | 【学位申請日】2019-04-03 | |||||
| 学位名 | ||||||
| 学位名の言語 | ja | |||||
| 学位名 | 博士(医学) | |||||
| 学位名 | ||||||
| 学位名の言語 | en | |||||
| 学位名 | Doctor of Philosophy in Medical Science | |||||
| 学位授与機関名 | ||||||
| 学位授与機関識別子Scheme | kakenhi | |||||
| 学位授与機関識別子 | 17701 | |||||
| 学位授与機関名の言語 | ja | |||||
| 学位授与機関名 | 鹿児島大学 | |||||
| 学位授与年月日 | ||||||
| 学位授与年月日 | 2019-09-17 | |||||
| 学位授与番号 | ||||||
| 学位授与番号 | 甲総研第519号 | |||||
