未登录 De novo variants in KDM2A cause a syndromic neurodevelopmental disorder KDM2A基因中的全新变异导致一种综合征性神经发育障碍 Anderson, Eric N.; Drukewitz, Stephan; Kour, Sukhleen; Chimata, Anuradha, V; Rajan, Deepa S.; Schonnagel, Senta; Stals, Karen L.; Donnelly, Deirdre; O'sullivan, Siobhan; Mantovani, John F.; Tan, Tiong Y.; Stark, Zornitza; Zacher, Pia; Chatron, Nicolas; Monin, Pauline; Drunat, Severine; Vial, Yoann; Latypova, Xenia; Levy, Jonathan; Verloes, Alain; Carter, Jennefer N.; Bonner, Devon E.; Shankar, Suma P.; Bernstein, Jonathan A.; Cohen, Julie S.; Comi, Anne; Carere, Deanna Alexis; Dyer, Lisa M.; Mullegama, Sureni, V; Sanchez-Lara, Pedro A.; Grand, Katheryn; Kim, Hyung-Goo; Ben-Mahmoud, Afif; Gospe Jr, Sidney M.; Belles, Rebecca S.; Bellus, Gary; Lichtenbelt, Klaske D.; Oegema, Renske; Rauch, Anita; Ivanovski, Ivan; Mau-Them, Frederic Tran; Garde, Aurore; Rabin, Rachel; Pappas, John; Bley, Annette E.; Bredow, Janna; Wagner, Timo; Decker, Eva; Bergmann, Carsten; Domenach, Louis; Margot, Henri; Lemke, Johannes R.; Abou Jamra, Rami; Hentschel, Julia; Mefford, Heather; Singh, Amit; Pandey, Udai Bhan; Platzer, Konrad 分享 收藏
Small-molecule dissolution of stress granules by redox modulation benefits ALS models 通过氧化还原调节实现应激颗粒的小分子溶解，对ALS模型有益。 Uechi, Hiroyuki; Sridharan, Sindhuja; Nijssen, Jik; Bilstein, Jessica; Iglesias-Artola, Juan M.; Kishigami, Satoshi; Casablancas-Antras, Virginia; Poser, Ina; Martinez, Eduardo J.; Boczek, Edgar; Wagner, Michael; Tomschke, Nadine; Domingues, Antonio M. de Jesus; Pal, Arun; Doeleman, Thom; Kour, Sukhleen; Anderson, Eric Nathaniel; Stein, Frank; Lee, Hyun O.; Zhang, Xiaojie; Fritsch, Anatol W.; Jahnel, Marcus; Fuersch, Julius; Murthy, Anastasia C.; Alberti, Simon; Bickle, Marc; Fawzi, Nicolas L.; Nadler, Andre; David, Della C.; Pandey, Udai B.; Hermann, Andreas; Stengel, Florian; Davis, Benjamin G.; Baldwin, Andrew J.; Savitski, Mikhail M.; Hyman, Anthony A.; Wheeler, Richard J. 分享 收藏
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MATR3 pathogenic variants differentially impair its cryptic splicing repression function Khan, Mashiat; Chen, Xiao Xiao Lily; Dias, Michelle; Santos, Jhune Rizsan; Kour, Sukhleen; You, Justin; van Bruggen, Rebekah; Youssef, Mohieldin M. M.; Wan, Ying-Wooi; Liu, Zhandong; Rosenfeld, Jill A.; Tan, Qiumin; Pandey, Udai Bhan; Yalamanchili, Hari Krishna; Park, Jeehye 分享 收藏
Drosha-dependent microRNAs modulate FUS-mediated neurodegeneration in vivo Kour, Sukhleen; Fortuna, Tyler; Anderson, Eric N.; Mawrie, Darilang; Bilstein, Jessica; Sivasubramanian, Ramakrishnan; Ward, Caroline; Roy, Rishit; Rajasundaram, Dhivyaa; Sterneckert, Jared; Pandey, Udai Bhan 分享 收藏
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration Fortuna, Tyler R. R.; Kour, Sukhleen; Chimata, Anuradha Venkatakrishnan; Muinos-Buehl, Anixa; Anderson, Eric N. N.; Nelson IV, Charlie H. H.; Ward, Caroline; Chauhan, Om; O'Brien, Casey; Rajasundaram, Dhivyaa; Rajan, Deepa S. S.; Wirth, Brunhilde; Singh, Amit; Pandey, Udai Bhan 分享 收藏
NgR1 binding to reovirus reveals an unusual bivalent interaction and a new viral attachment protein Sutherland, Danica M.; Strebl, Michael; Koehler, Melanie; Welsh, Olivia L.; Yu, Xinzhe; Hu, Liya; Natividade, Rita dos Santos; Knowlton, Jonathan J.; Taylor, Gwen M.; Moreno, Rodolfo A.; Woerz, Patrick; Lonergan, Zachery R.; Aravamudhan, Pavithra; Guzman-Cardozo, Camila; Kour, Sukhleen; Pandey, Udai Bhan; Alsteens, David; Wang, Zhao; Prasad, B. V. Venkataram; Stehle, Thilo; Dermody, Terence S. 分享 收藏
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders Francisco-Velilla, Rosario; Embarc-Buh, Azman; del Cano-Ochoa, Francisco; Abellan, Salvador; Vilar, Marcal; Alvarez, Sara; Fernandez-Jaen, Alberto; Kour, Sukhleen; Rajan, Deepa S.; Pandey, Udai Bhan; Ramon-Maiques, Santiago; Martinez-Salas, Encarnacion 分享 收藏
DDX17 is involved in DNA damage repair and modifies FUS toxicity in an RGG-domain dependent manner Fortuna, Tyler R.; Kour, Sukhleen; Anderson, Eric N.; Ward, Caroline; Rajasundaram, Dhivyaa; Donnelly, Christopher J.; Hermann, Andreas; Wyne, Hala; Shewmaker, Frank; Pandey, Udai Bhan 分享 收藏
Traumatic injury compromises nucleocytoplasmic transport and leads to TDP-43 pathology Anderson, Eric N.; Morera, Andres A.; Kour, Sukhleen; Cherry, Jonathan D.; Ramesh, Nandini; Gleixner, Amanda; Schwartz, Jacob C.; Ebmeier, Christopher; Old, William; Donnelly, Christopher J.; Cheng, Jeffrey P.; Kline, Anthony E.; Kofler, Julia; Stein, Thor D.; Pandey, Udai Bhan 分享 收藏
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder Kour, Sukhleen; Rajan, Deepa S.; Fortuna, Tyler R.; Anderson, Eric N.; Ward, Caroline; Lee, Youngha; Lee, Sangmoon; Shin, Yong Beom; Chae, Jong-Hee; Choi, Murim; Siquier, Karine; Cantagrel, Vincent; Amiel, Jeanne; Stolerman, Elliot S.; Barnett, Sarah S.; Cousin, Margot A.; Castro, Diana; McDonald, Kimberly; Kirmse, Brian; Nemeth, Andrea H.; Rajasundaram, Dhivyaa; Innes, A. Micheil; Lynch, Danielle; Frosk, Patrick; Collins, Abigail; Gibbons, Melissa; Yang, Michele; Desguerre, Isabelle; Boddaert, Nathalie; Gitiaux, Cyril; Rydning, Siri Lynne; Selmer, Kaja K.; Urreizti, Roser; Garcia-Oguiza, Alberto; Osorio, Andres Nascimento; Verdura, Edgard; Pujol, Aurora; McCurry, Hannah R.; Landers, John E.; Agnihotri, Sameer; Andriescu, E. Corina; Moody, Shade B.; Phornphutkul, Chanika; Sacoto, Maria J. Guillen; Begtrup, Amber; Houlden, Henry; Kirschner, Janbernd; Schorling, David; Rudnik-Schoeneborn, Sabine; Strom, Tim M.; Leiz, Steffen; Juliette, Kali; Richardson, Randal; Yang, Ying; Zhang, Yuehua; Wang, Minghui; Wang, Jia; Wang, Xiaodong; Platzer, Konrad; Donkervoort, Sandra; Bonnemann, Carsten G.; Wagner, Matias; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Stanley, Valentina; Maroofian, Reza; Gleeson, Joseph G.; Zaki, Maha S.; Senderek, Jan; Pandey, Udai Bhan 分享 收藏
RNA dependent suppression of C9orf72 ALS/FTD associated neurodegeneration by Matrin-3 Ramesh, Nandini; Daley, Elizabeth L.; Gleixner, Amanda M.; Mann, Jacob R.; Kour, Sukhleen; Mawrie, Darilang; Anderson, Eric N.; Kofler, Julia; Donnelly, Christopher J.; Kiskinis, Evangelos; Pandey, Udai Bhan 分享 收藏
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Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense-Mediated Decay as Modifiers of ALS/FTD C9orf72 Toxicity Ortega, Juan A.; Daley, Elizabeth L.; Kour, Sukhleen; Samani, Marisa; Tellez, Liana; Smith, Haley S.; Hall, Elizabeth A.; Esengul, Y. Taylan; Tsai, Yung-Hsu; Gendron, Tania F.; Donnelly, Christopher J.; Siddique, Teepu; Savas, Jeffrey N.; Pandey, Udai B.; Kiskinis, Evangelos 分享 收藏
Muscleblind acts as a modifier of FUS toxicity by modulating stress granule dynamics and SMN localization Casci, Ian; Krishnamurthy, Karthik; Kour, Sukhleen; Tripathy, Vadreenath; Ramesh, Nandini; Anderson, Eric N.; Marrone, Lara; Grant, Rogan A.; Oliver, Stacie; Gochenaur, Lauren; Patel, Krishani; Sterneckert, Jared; Gleixner, Amanda M.; Donnelly, Christopher J.; Ruepp, Marc-David; Sini, Antonella M.; Zuccaro, Emanuela; Pennuto, Maria; Pasinelli, Piera; Pandey, Udai Bhan 分享 收藏
FUS pathology in ALS is linked to alterations in multiple ALS-associated proteins and rescued by drugs stimulating autophagy Marrone, Lara; Drexler, Hannes C. A.; Wang, Jie; Tripathi, Priyanka; Distler, Tania; Heisterkamp, Patrick; Anderson, Eric Nathaniel; Kour, Sukhleen; Moraiti, Anastasia; Maharana, Shovamayee; Bhatnagar, Rajat; Belgard, T. Grant; Tripathy, Vadreenath; Kalmbach, Norman; Hosseinzadeh, Zohreh; Crippa, Valeria; Abo-Rady, Masin; Wegner, Florian; Poletti, Angelo; Troost, Dirk; Aronica, Eleonora; Busskamp, Volker; Weis, Joachim; Pandey, Udai Bhan; Hyman, Anthony A.; Alberti, Simon; Goswami, Anand; Sterneckert, Jared 分享 收藏
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