日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Distinct mismatch-repair complex genes set neuronal CAG-repeat expansion rate to drive selective pathogenesis in HD mice.

不同的错配修复复合体基因决定神经元 CAG 重复序列的扩增速率,从而驱动 HD 小鼠的选择性发病机制

Wang Nan, Zhang Shasha, Langfelder Peter, Ramanathan Lalini, Gao Fuying, Plascencia Mary, Vaca Raymond, Gu Xiaofeng, Deng Linna, Dionisio Leonardo E, Vu Ha, Maciejewski Emily, Ernst Jason, Prasad Brinda C, Vogt Thomas F, Horvath Steve, Aaronson Jeffrey S, Rosinski Jim, Yang X William

A FAN1 point mutation associated with accelerated Huntington's disease progression alters its PCNA-mediated assembly on DNA

与亨廷顿病进展加速相关的FAN1基因点突变会改变其在DNA上通过PCNA介导的组装。

Aretz, Jonas; Jeyasankar, Gayathri; Salerno-Kochan, Anna; Thomsen, Maren; Thieulin-Pardo, Gabriel; Haque, Tasir; Monteagudo, Edith; Felsenfeld, Dan; Finley, Michael; Vogt, Thomas F; Boudet, Julien; Prasad, Brinda C

Author Correction: Huntington's disease cellular phenotypes are rescued non-cell autonomously by healthy cells in mosaic telencephalic organoids

作者更正:亨廷顿病细胞表型可通过嵌合型端脑类器官中的健康细胞以非细胞自主的方式得到挽救。

Galimberti, Maura; Nucera, Maria R; Bocchi, Vittoria D; Conforti, Paola; Vezzoli, Elena; Cereda, Matteo; Maffezzini, Camilla; Iennaco, Raffaele; Scolz, Andrea; Falqui, Andrea; Cordiglieri, Chiara; Cremona, Martina; Espuny-Camacho, Ira; Faedo, Andrea; Felsenfeld, Dan P; Vogt, Thomas F; Ranzani, Valeria; Zuccato, Chiara; Besusso, Dario; Cattaneo, Elena

Suppression of Huntington's Disease Somatic Instability by Transcriptional Repression and Direct CAG Repeat Binding.

通过转录抑制和直接 CAG 重复序列结合抑制亨廷顿病体细胞不稳定性。

Mathews Ella W, Coffey Sydney R, Gärtner Annette, Belgrad Jillian, Bragg Robert M, O'Reilly Daniel, Cantle Jeffrey P, McHugh Cassandra, Summers Ashley, Fentz Joachim, Schwagarus Tom, Cornelius Antje, Lingos Ioannis, Burch Zoe, Kovalenko Marina, Andrew Marissa A, Bennett C Frank, Kordasiewicz Holly B, Marchionini Deanna M, Wilkinson Hilary, Vogt Thomas F, Beuzer Paolo, Pinto Ricardo M, Khvorova Anastasia, Howland David, Wheeler Vanessa C, Carroll Jeffrey B

Elucidation of multiple high-resolution states of human MutSβ by cryo-EM reveals interplay between ATP/ADP binding and heteroduplex DNA recognition.

通过冷冻电镜阐明人类 MutSβ 的多个高分辨率状态,揭示了 ATP/ADP 结合和异源双链 DNA 识别之间的相互作用

Lee Jung-Hoon, Thomsen Maren, Daub Herwin, Thieulin-Pardo Gabriel, Steinbacher Stefan, Sztyler Agnieszka, Dahiya Vinay, Neudegger Tobias, Dominguez Celia, Iyer Ravi R, Wilkinson Hilary A, Monteagudo Edith, Plotnikov Nikolay V, Felsenfeld Dan P, Haque Tasir S, Finley Michael, Boudet Julien, Vogt Thomas F, Prasad Brinda C

Intersecting impact of CAG repeat and huntingtin knockout in stem cell-derived cortical neurons.

CAG 重复序列和亨廷顿蛋白敲除对干细胞衍生皮层神经元的交叉影响。

Stocksdale Jennifer T, Leventhal Matthew J, Lam Stephanie, Xu Yu-Xin, Wang Yang Oliver, Wang Keona Q, Thomas Reuben, Faghihmonzavi Zohreh, Raghav Yogindra, Smith Charlene, Wu Jie, Miramontes Ricardo, Sarda Kanchan, Johnston Heather, Shin Min-Gyoung, Huang Terry, Foster Mikelle, Barch Mariya, Amirani Naufa, Paiz Chris, Easter Lindsay, Duderstadt Erse, Vaibhav Vineet, Sundararaman Niveda, Felsenfeld Dan P, Vogt Thomas F, Van Eyk Jennifer, Finkbeiner Steve, Kaye Julia A, Fraenkel Ernest, Thompson Leslie M

Blocking somatic repeat expansion and lowering huntingtin via RNA interference synergize to prevent Huntington's disease pathogenesis in mice

通过RNA干扰抑制体细胞重复序列扩增和降低亨廷顿蛋白水平可协同预防小鼠亨廷顿病的发病机制。

Belgrad, Jillian; Summers, Ashley; Landles, Christian; Greene, Jonathan R; Hildebrand, Samuel; Knox, Emily; Sapp, Ellen; Yamada, Nozomi; Furgal, Raymond; Miller, Rachael; Osborne, Georgina F; Chase, Kathryn; Luu, Eric; Freedman, Jason; Bramato, Brianna; McHugh, Nicholas; Benoit, Vicky; O'Reilly, Daniel; Greer, Paul; Bates, Gillian P; Vogt, Thomas F; Lee, Ramee; Howland, David; DiFiglia, Marian; Aronin, Neil; Khvorova, Anastasia

Mapping brain gene coexpression in daytime transcriptomes unveils diurnal molecular networks and deciphers perturbation gene signatures.

绘制白天转录组中大脑基因共表达图谱,揭示昼夜分子网络,并破译扰动基因特征

Wang Nan, Langfelder Peter, Stricos Matthew, Ramanathan Lalini, Richman Jeffrey B, Vaca Raymond, Plascencia Mary, Gu Xiaofeng, Zhang Shasha, Tamai T Katherine, Zhang Liguo, Gao Fuying, Ouk Koliane, Lu Xiang, Ivanov Leonid V, Vogt Thomas F, Lu Qing Richard, Morton A Jennifer, Colwell Christopher S, Aaronson Jeffrey S, Rosinski Jim, Horvath Steve, Yang X William

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

蛋白质编码变异提示与脂质稳态相关的新基因可能影响体脂分布。

Justice, Anne E; Karaderi, Tugce; Highland, Heather M; Young, Kristin L; Graff, Mariaelisa; Lu, Yingchang; Turcot, Valérie; Auer, Paul L; Fine, Rebecca S; Guo, Xiuqing; Schurmann, Claudia; Lempradl, Adelheid; Marouli, Eirini; Mahajan, Anubha; Winkler, Thomas W; Locke, Adam E; Medina-Gomez, Carolina; Esko, Tõnu; Vedantam, Sailaja; Giri, Ayush; Lo, Ken Sin; Alfred, Tamuno; Mudgal, Poorva; Ng, Maggie C Y; Heard-Costa, Nancy L; Feitosa, Mary F; Manning, Alisa K; Willems, Sara M; Sivapalaratnam, Suthesh; Abecasis, Goncalo; Alam, Dewan S; Allison, Matthew; Amouyel, Philippe; Arzumanyan, Zorayr; Balkau, Beverley; Bastarache, Lisa; Bergmann, Sven; Bielak, Lawrence F; Blüher, Matthias; Boehnke, Michael; Boeing, Heiner; Boerwinkle, Eric; Böger, Carsten A; Bork-Jensen, Jette; Bottinger, Erwin P; Bowden, Donald W; Brandslund, Ivan; Broer, Linda; Burt, Amber A; Butterworth, Adam S; Caulfield, Mark J; Cesana, Giancarlo; Chambers, John C; Chasman, Daniel I; Chen, Yii-Der Ida; Chowdhury, Rajiv; Christensen, Cramer; Chu, Audrey Y; Collins, Francis S; Cook, James P; Cox, Amanda J; Crosslin, David S; Danesh, John; de Bakker, Paul I W; Denus, Simon de; Mutsert, Renée de; Dedoussis, George; Demerath, Ellen W; Dennis, Joe G; Denny, Josh C; Di Angelantonio, Emanuele; Dörr, Marcus; Drenos, Fotios; Dubé, Marie-Pierre; Dunning, Alison M; Easton, Douglas F; Elliott, Paul; Evangelou, Evangelos; Farmaki, Aliki-Eleni; Feng, Shuang; Ferrannini, Ele; Ferrieres, Jean; Florez, Jose C; Fornage, Myriam; Fox, Caroline S; Franks, Paul W; Friedrich, Nele; Gan, Wei; Gandin, Ilaria; Gasparini, Paolo; Giedraitis, Vilmantas; Girotto, Giorgia; Gorski, Mathias; Grallert, Harald; Grarup, Niels; Grove, Megan L; Gustafsson, Stefan; Haessler, Jeff; Hansen, Torben; Hattersley, Andrew T; Hayward, Caroline; Heid, Iris M; Holmen, Oddgeir L; Hovingh, G Kees; Howson, Joanna M M; Hu, Yao; Hung, Yi-Jen; Hveem, Kristian; Ikram, M Arfan; Ingelsson, Erik; Jackson, Anne U; Jarvik, Gail P; Jia, Yucheng; Jørgensen, Torben; Jousilahti, Pekka; Justesen, Johanne M; Kahali, Bratati; Karaleftheri, Maria; Kardia, Sharon L R; Karpe, Fredrik; Kee, Frank; Kitajima, Hidetoshi; Komulainen, Pirjo; Kooner, Jaspal S; Kovacs, Peter; Krämer, Bernhard K; Kuulasmaa, Kari; Kuusisto, Johanna; Laakso, Markku; Lakka, Timo A; Lamparter, David; Lange, Leslie A; Langenberg, Claudia; Larson, Eric B; Lee, Nanette R; Lee, Wen-Jane; Lehtimäki, Terho; Lewis, Cora E; Li, Huaixing; Li, Jin; Li-Gao, Ruifang; Lin, Li-An; Lin, Xu; Lind, Lars; Lindström, Jaana; Linneberg, Allan; Liu, Ching-Ti; Liu, Dajiang J; Luan, Jian'an; Lyytikäinen, Leo-Pekka; MacGregor, Stuart; Mägi, Reedik; Männistö, Satu; Marenne, Gaëlle; Marten, Jonathan; Masca, Nicholas G D; McCarthy, Mark I; Meidtner, Karina; Mihailov, Evelin; Moilanen, Leena; Moitry, Marie; Mook-Kanamori, Dennis O; Morgan, Anna; Morris, Andrew P; Müller-Nurasyid, Martina; Munroe, Patricia B; Narisu, Narisu; Nelson, Christopher P; Neville, Matt; Ntalla, Ioanna; O'Connell, Jeffrey R; Owen, Katharine R; Pedersen, Oluf; Peloso, Gina M; Pennell, Craig E; Perola, Markus; Perry, James A; Perry, John R B; Pers, Tune H; Ewing, Ailith; Polasek, Ozren; Raitakari, Olli T; Rasheed, Asif; Raulerson, Chelsea K; Rauramaa, Rainer; Reilly, Dermot F; Reiner, Alex P; Ridker, Paul M; Rivas, Manuel A; Robertson, Neil R; Robino, Antonietta; Rudan, Igor; Ruth, Katherine S; Saleheen, Danish; Salomaa, Veikko; Samani, Nilesh J; Schreiner, Pamela J; Schulze, Matthias B; Scott, Robert A; Segura-Lepe, Marcelo; Sim, Xueling; Slater, Andrew J; Small, Kerrin S; Smith, Blair H; Smith, Jennifer A; Southam, Lorraine; Spector, Timothy D; Speliotes, Elizabeth K; Stefansson, Kari; Steinthorsdottir, Valgerdur; Stirrups, Kathleen E; Strauch, Konstantin; Stringham, Heather M; Stumvoll, Michael; Sun, Liang; Surendran, Praveen; Swart, Karin M A; Tardif, Jean-Claude; Taylor, Kent D; Teumer, Alexander; Thompson, Deborah J; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Thuesen, Betina H; Tönjes, Anke; Torres, Mina; Tsafantakis, Emmanouil; Tuomilehto, Jaakko; Uitterlinden, André G; Uusitupa, Matti; van Duijn, Cornelia M; Vanhala, Mauno; Varma, Rohit; Vermeulen, Sita H; Vestergaard, Henrik; Vitart, Veronique; Vogt, Thomas F; Vuckovic, Dragana; Wagenknecht, Lynne E; Walker, Mark; Wallentin, Lars; Wang, Feijie; Wang, Carol A; Wang, Shuai; Wareham, Nicholas J; Warren, Helen R; Waterworth, Dawn M; Wessel, Jennifer; White, Harvey D; Willer, Cristen J; Wilson, James G; Wood, Andrew R; Wu, Ying; Yaghootkar, Hanieh; Yao, Jie; Yerges-Armstrong, Laura M; Young, Robin; Zeggini, Eleftheria; Zhan, Xiaowei; Zhang, Weihua; Zhao, Jing Hua; Zhao, Wei; Zheng, He; Zhou, Wei; Zillikens, M Carola; Rivadeneira, Fernando; Borecki, Ingrid B; Pospisilik, J Andrew; Deloukas, Panos; Frayling, Timothy M; Lettre, Guillaume; Mohlke, Karen L; Rotter, Jerome I; Kutalik, Zoltán; Hirschhorn, Joel N; Cupples, L Adrienne; Loos, Ruth J F; North, Kari E; Lindgren, Cecilia M

MicroRNA signatures of endogenous Huntingtin CAG repeat expansion in mice

小鼠内源性亨廷顿蛋白CAG重复序列扩增的microRNA特征

Langfelder, Peter; Gao, Fuying; Wang, Nan; Howland, David; Kwak, Seung; Vogt, Thomas F; Aaronson, Jeffrey S; Rosinski, Jim; Coppola, Giovanni; Horvath, Steve; Yang, X William