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家族性筋萎縮性側索硬化症における Cu/Zn superoxide dismutase遺伝子変異に関する研究
http://hdl.handle.net/10191/38412
http://hdl.handle.net/10191/38412b9d4570e-4e69-46d8-b975-07d9aed6d8d1
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
108(8)_609-617.pdf (3.2 MB)
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| Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2016-02-18 | |||||
| タイトル | ||||||
| タイトル | 家族性筋萎縮性側索硬化症における Cu/Zn superoxide dismutase遺伝子変異に関する研究 | |||||
| タイトル | ||||||
| タイトル | 家族性筋萎縮性側索硬化症における Cu/Zn superoxide dismutase遺伝子変異に関する研究 | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | jpn | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | familial amyotrophic lateral sclerosis | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | free radical | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Cu/Zn superoxide dismutase | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | missense mutation | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | 家族性筋萎縮性側索硬化症 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | フリーラジカル | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | スーパーオキシドジスムターゼ | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | ミスセンス変異 | |||||
| 資源タイプ | ||||||
| 資源 | http://purl.org/coar/resource_type/c_6501 | |||||
| タイプ | departmental bulletin paper | |||||
| その他のタイトル | ||||||
| その他のタイトル | Missense Mutation in Cu/Zn Superoxide Dismutase Gene in Familial Amyotrophic Lateral Sclerosis | |||||
| 著者 |
中野, 亮一
× 中野, 亮一 |
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| 著者別名 | ||||||
| 識別子Scheme | WEKO | |||||
| 識別子 | 119453 | |||||
| 姓名 | Nakano, Ryoichi | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Several missense mutations in Cu/Zn superoxide dismutase gene (SOD1) have recently been reported as a putative cause of chromosome-21q-linked familial amyotrophic lateral sclerosis (FALS). I discovered a novel missense mutation (substitution of Thr for Ala^4) in exon 1 (GCC to ACC) in two FALS patients from one Japanese FALS family. No mutations were found in 17 sporadic ALS, 2 ALS of Guam or 7 Parkinson-dementia complex of Guam. The enzyme activity of recombinant Cu/Zn superoxide dismutase (SOD) with the Ala^4 to Thr mutation was significantly reduced in the expression system in E.coli. In this system, the recombinant protein is produced as a fusion protein connected by a histidinerich polypeptide containing 20 amino acid residues. On the other hand, in the expression system in insect cells using baculovirus, the mutant SOD, which was nonfused protein, expressed as high enzyme activity as wild-type SOD. These results suggest that the stability of SOD with Ala^4 to Thr mutation is disrupted especially if it is expressed as the fusion protein. Autopsy was carried out for one of the two patients, and the pathological findings were typical for FALS with posterior column involvement. These results raise the possibility that mutation of the SOD1 is responsible for FALS with broader pathological involvement. | |||||
| 書誌情報 |
新潟医学会雑誌 en : 新潟医学会雑誌 巻 108, 号 8, p. 609-617, 発行日 1994-08 |
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| 出版者 | ||||||
| 出版者 | 新潟医学会 | |||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 00290440 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AN00182415 | |||||
| 著者版フラグ | ||||||
| 値 | publisher | |||||
