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J-GLOBAL ID：201802288767045077   整理番号：18A0712271

Parkin変異を有するパーキンソン病患者からの皮膚線維芽細胞における転写変化【JST・京大機械翻訳】

Transcriptional alterations in skin fibroblasts from Parkinson’s disease patients with parkin mutations

著者 (33件)： Gonzalez-Casacuberta Ingrid (Laboratory of Muscle Research and Mitochondrial Function-CELLEX, Institut d’Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona (UB), Department of Internal Medicine-Hospital Clinic of Barcelona, Barcelona, Spain) ,  Gonzalez-Casacuberta Ingrid (Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain) ,  Moren Constanza (Laboratory of Muscle Research and Mitochondrial Function-CELLEX, Institut d’Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona (UB), Department of Internal Medicine-Hospital Clinic of Barcelona, Barcelona, Spain) ,  Moren Constanza (Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain) ,  Juarez-Flores Diana-Luz (Laboratory of Muscle Research and Mitochondrial Function-CELLEX, Institut d’Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona (UB), Department of Internal Medicine-Hospital Clinic of Barcelona, Barcelona, Spain) ,  Juarez-Flores Diana-Luz (Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain) ,  Esteve-Codina Anna (Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain) ,  Esteve-Codina Anna (Universitat Pompeu Fabra (UPF), Barcelona, Spain) ,  Sierra Cristina (Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Spain) ,  Catalan-Garcia Marc (Laboratory of Muscle Research and Mitochondrial Function-CELLEX, Institut d’Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona (UB), Department of Internal Medicine-Hospital Clinic of Barcelona, Barcelona, Spain) ,  Catalan-Garcia Marc (Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain) ,  Guitart-Mampel Mariona (Laboratory of Muscle Research and Mitochondrial Function-CELLEX, Institut d’Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona (UB), Department of Internal Medicine-Hospital Clinic of Barcelona, Barcelona, Spain) ,  Guitart-Mampel Mariona (Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain) ,  Tobias Ester (Laboratory of Muscle Research and Mitochondrial Function-CELLEX, Institut d’Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona (UB), Department of Internal Medicine-Hospital Clinic of Barcelona, Barcelona, Spain) ,  Tobias Ester (Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain) ,  Milisenda Jose Cesar (Laboratory of Muscle Research and Mitochondrial Function-CELLEX, Institut d’Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona (UB), Department of Internal Medicine-Hospital Clinic of Barcelona, Barcelona, Spain) ,  Milisenda Jose Cesar (Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain) ,  Pont-Sunyer Claustre (Laboratory of Parkison Disease and Other Neurodegenerative Movement Disorders: Clinical and Experimental Research-CELLEX, IDIBAPS, Faculty of Medicine and Health Sciences, UB, Department of Neurology-Hospital Clinic of Barcelona, Barcelona, Spain) ,  Pont-Sunyer Claustre (Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain) ,  Marti Maria Jose (Laboratory of Parkison Disease and Other Neurodegenerative Movement Disorders: Clinical and Experimental Research-CELLEX, IDIBAPS, Faculty of Medicine and Health Sciences, UB, Department of Neurology-Hospital Clinic of Barcelona, Barcelona, Spain) ,  Marti Maria Jose (Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain) ,  Cardellach Francesc (Laboratory of Muscle Research and Mitochondrial Function-CELLEX, Institut d’Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona (UB), Department of Internal Medicine-Hospital Clinic of Barcelona, Barcelona, Spain) ,  Cardellach Francesc (Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain) ,  Tolosa Eduard (Laboratory of Parkison Disease and Other Neurodegenerative Movement Disorders: Clinical and Experimental Research-CELLEX, IDIBAPS, Faculty of Medicine and Health Sciences, UB, Department of Neurology-Hospital Clinic of Barcelona, Barcelona, Spain) ,  Tolosa Eduard (Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain) ,  Artuch Rafael (Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain) ,  Artuch Rafael (Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Spain) ,  Ezquerra Mario (Laboratory of Parkison Disease and Other Neurodegenerative Movement Disorders: Clinical and Experimental Research-CELLEX, IDIBAPS, Faculty of Medicine and Health Sciences, UB, Department of Neurology-Hospital Clinic of Barcelona, Barcelona, Spain) ,  Ezquerra Mario (Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain) ,  Fernandez-Santiago Ruben (Laboratory of Parkison Disease and Other Neurodegenerative Movement Disorders: Clinical and Experimental Research-CELLEX, IDIBAPS, Faculty of Medicine and Health Sciences, UB, Department of Neurology-Hospital Clinic of Barcelona, Barcelona, Spain) ,  Fernandez-Santiago Ruben (Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain) ,  Garrabou Gloria (Laboratory of Muscle Research and Mitochondrial Function-CELLEX, Institut d’Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona (UB), Department of Internal Medicine-Hospital Clinic of Barcelona, Barcelona, Spain) ,  Garrabou Gloria (Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain)
資料名： Neurobiology of Aging  (Neurobiology of Aging)
巻： 65  ページ： 206-216  発行年： 2018年 
JST資料番号： W0356A  ISSN： 0197-4580  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： パーキン遺伝子(PRKN)の変異は常染色体劣性若年性Parkinson病(PD)の最も一般的な原因である。PRKNは,プロテアソーム仲介蛋白質ターンオーバー,ミトコンドリア機能,ミトファジーおよび細胞生存を含む複数の調節機能に関与するE3ユビキチンリガーゼをコードする。しかしながら,PRKN関連PD(PRKN-PD)におけるPRKN変異により仲介される正確な分子事象は不明のままである。パーキン突然変異の細胞影響を明らかにするために,異なるPRKN突然変異(n=4)と遺伝的に無関係な健常被験者(n=4)を持つPRKN-PD患者からの皮膚線維芽細胞におけるRNA配列研究を行った。PRKN-PD線維芽細胞において343の特異的に発現した遺伝子を同定した。遺伝子オントロジーおよび標準経路分析は,細胞接着,細胞増殖,およびアミノ酸および葉酸代謝のようなプロセスにおいて,他の間で差次的に発現した遺伝子の濃縮を明らかにした。PRKN突然変異はPRKN-PD患者の線維芽細胞で観察されるように大きな全体的遺伝子発現変化と関連し,皮膚のような非神経末梢組織に影響する全身疾患としてのPDの見解を支持することを示した。Copyright 2018 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： *線維芽細胞 ,  突然変異 ,  遺伝子発現 ,  細胞増殖 ,  *患者 ,  遺伝 ,  遺伝子 ,  *Parkinson病 ,  アミノ酸 ,  プロテアソーム ,  *変異
準シソーラス用語： 細胞生存 ,  マイトファジー ,  *皮膚線維芽細胞 ,  *Parkin , 【Automatic Indexing@JST】

著者キーワード (5件)： パーキンソン病(PD) ,  パーキン ,  RNAシークエンシング(RNA-seq) ,  線維芽細胞 ,  トランスクリプトーム

分類 (4件)： 神経の基礎医学  (GN01020W) ,  皮膚の基礎医学  (GF01020Y) ,  医用素材  (GA05040H) ,  遺伝子発現  (EC02040Q)

タイトルに関連する用語 (6件)： Parkin ,  変異 ,  パーキンソン病 ,  患者 ,  皮膚線維芽細胞 ,  転写