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Cross-species genetic screens identify transglutaminase 5 as a regulator of polyglutamine- expanded ataxin-1 Lee, Won-Seok; Al-Ramahi, Ismael; Jeong, Hyun-Hwan; Jang, Youjin; Lin, Tao; Adamski, Carolyn J.; Lavery, Laura A.; Rath, Smruti; Richman, Ronald; Bondar, Vitaliy V.; Alcala, Elizabeth; Revelli, Jean-Pierre; Orr, Harry T.; Liu, Zhandong; Botas, Juan; Zoghbi, Huda Y. 分享 收藏
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An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function Wang, Li; Pang, Kaifang; Han, Kihoon; Adamski, Carolyn J.; Wang, Wei; He, Lingjie; Lai, Jason K.; Bondar, Vitaliy V.; Duman, Joseph G.; Richman, Ronald; Tolias, Kimberley F.; Barth, Patrick; Palzkill, Timothy; Liu, Zhandong; Holder, J. Lloyd, Jr.; Zoghbi, Huda Y. 分享 收藏
RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins De Maio, Antonia; Yalamanchili, Hari Krishna; Adamski, Carolyn J.; Gennarino, Vincenzo A.; Liu, Zhandong; Qin, Jun; Jung, Sung Y.; Richman, Ronald; Orr, Harry; Zoghbi, Huda Y. 分享 收藏
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans ATXN1-CIC复合体的破坏导致小鼠和人类的一系列神经行为表型 Lu, Hsiang-Chih; Tan, Qiumin; Rousseaux, Maxime W. C.; Wang, Wei; Kim, Ji-Yoen; Richman, Ronald; Wan, Ying-Wooi; Yeh, Szu-Ying; Patel, Jay M.; Liu, Xiuyun; Lin, Tao; Lee, Yoontae; Fryer, John D.; Han, Jing; Chahrour, Maria; Finnell, Richard H.; Lei, Yunping; Zurita-Jimenez, Maria E.; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Van Maldergem, Lionel; Lehalle, Daphne; Jean-Marcais, Nolwenn; Mosca-Boidron, Anne-Laure; Thevenon, Julien; Cousin, Margot A.; Bro, Della E.; Lanpher, Brendan C.; Klee, Eric W.; Alexander, Nora; Bainbridge, Matthew N.; Orr, Harry T.; Sillitoe, Roy V.; Ljungberg, M. Cecilia; Liu, Zhandong; Schaaf, Christian P.; Zoghbi, Huda Y. 分享 收藏
Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes Lasagna-Reeves, Cristian A.; Rousseaux, Maxime W. C.; Guerrero-Munoz, Marcos J.; Vilanova-Velez, Luis; Park, Jeehye; See, Lauren; Jafar-Nejad, Paymaan; Richman, Ronald; Orr, Harry T.; Kayed, Rakez; Zoghbi, Huda Y. 分享 收藏
A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1 Lasagna-Reeves, Cristian A.; Rousseaux, Maxime W. C.; Guerrero-Munoz, Marcos J.; Park, Jeehye; Jafar-Nejad, Paymaan; Richman, Ronald; Lu, Nan; Sengupta, Urmi; Litvinchuk, Alexandra; Orr, Harry T.; Kayed, Rakez; Zoghbi, Huda Y. 分享 收藏
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Autism and Other Neuropsychiatric Symptoms Are Prevalent in Individuals With MECP2 Duplication Syndrome Ramocki, Melissa B.; Peters, Sarika U.; Tavyev, Y. Jane; Zhang, Feng; Carvalho, Claudia M. B.; Schaaf, Christian P.; Richman, Ronald; Fang, Ping; Glaze, Daniel G.; Lupski, James R.; Zoghbi, Huda Y. 分享 收藏
Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes Bowman, Aaron B.; Lam, Yung C.; Jafar-Nejad, Paymaan; Chen, Hung-Kai; Richman, Ronald; Samaco, Rodney C.; Fryer, John D.; Kahle, Juliette J.; Orr, Harry T.; Zoghbi, Huda Y. 分享 收藏
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