Not logged inGenetic dissection of Huntington's disease modification by variation at RRM2B
Lee, Kiuk; Shin, Baehyun; Kim, Mingyu; Lee, Seong Won; Oh, Young Mi; Kim, Kyung-Hee; Jiang, Andrew; Ko, Kwanyoung; Gillis, Tammy; Lucente, Diane; Lee, Ramee; Kwak, Seung; Lee, Jong-Min; Wheeler, Vanessa C.; Yoo, Andrew S.; Gusella, James F.; Macdonald, Marcy E.; Seong, Ihn Sik .png)
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SaveBase editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington's diseaseChoi, Doo Eun; Shin, Jun Wan; Zeng, Sophia; Hong, Eun Pyo; Jang, Jae-Hyun; Loupe, Jacob M.; Wheeler, Vanessa C.; Stutzman, Hannah E.; Kleinstiver, Ben; Lee, Jong-Min Share Save Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to diseaseDuvick, Lisa; Southern, W. Michael; Benzow, Kellie A.; Burch, Zoe N.; Handler, Hillary P.; Mitchell, Jason S.; Kuivinen, Hannah; Gadiparthi, Udaya; Yang, Praseuth; Soles, Alyssa; Sheeler, Carrie A.; Rainwater, Orion; Serres, Shannah; Lind, Erin B.; Nichols-Meade, Tessa; You, Yun; O'Callaghan, Brennon; Zoghbi, Huda Y.; Cvetanovic, Marija; Wheeler, Vanessa C.; Ervasti, James M.; Koob, Michael D.; Orr, Harry T. Share Save FAULTY LINEAR AND BACK-SPLICING IN HUNTINGTON'S DISEASE: NOVEL PLAYERS IN THE PATHOLOGIC PROCESS HINT AT INNOVATIVE RNA BIOMARKERSPellegrini, Miguel; Ayyildiz, Dilara; Bergonzoni, Guendalina; Monziani, Alan; Tripathi, Takshashila; Doring, Jessica; Cardamone, Giulia; Kerschbamer, Emanuela; Di Leva, Francesca; Perrone, F.; Abruzzese, M. P.; Busi, L. C.; Asselta, Rosanna; Pennati, Elia; Donini, Luisa; Zasso, Jacopo; Conti, Luciano; Wheeler, Vanessa C.; Dieterich, Christoph; Piazza, Silvano; Dassi, Erik; Squitieri, Ferdinando; Biagioli, Marta Share Save Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat (vol 10, 49, 2022)Campion, Lindsey N.; Mejia Maza, Alan; Yadav, Rachita; Penney, Ellen B.; Murcar, Micaela G.; Correia, Kevin; Gillis, Tammy; Fernandez-Cerado, Cara; Velasco-Andrada, M. Salvie; Legarda, G. Paul; Ganza-Bautista, Niecy G.; Lagarde, J. Benedict B.; Acuna, Patrick J.; Multhaupt-Buell, Trisha; Aldykiewicz, Gabrielle; Supnet, Melanie L.; De Guzman, Jan K.; Go, Criscely; Sharma, Nutan; Munoz, Edwin L.; Ang, Mark C.; Diesta, Cid Czarina E.; Bragg, D. Cristopher; Ozelius, Laurie J.; Wheeler, Vanessa C. Share Save Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeatCampion, Lindsey N.; Maza, Alan Meijia; Yadav, Rachita; Penney, Ellen B.; Murcar, Micaela G.; Correia, Kevin; Gillis, Tammy; Fernandez-Cerado, Cara; Velasco-Andrada, M. Salvie; Legarda, G. Paul; Ganza-Bautista, Niecy G.; Lagarde, J. Benedict B.; Acuna, Patrick J.; Multhaupt-Buell, Trisha; Aldykiewicz, Gabrielle; Supnet, Melanie L.; De Guzman, Jan K.; Go, Criscely; Sharma, Nutan; Munoz, Edwin L.; Ang, Mark C.; Diesta, Cid Czarina E.; Bragg, D. Cristopher; Ozelius, Laurie J.; Wheeler, Vanessa C. Share Save CIRCHTT, A CIRCULAR RNA FROM THE HUNTINGTON'S DISEASE GENE LOCUS: FUNCTIONAL CHARACTERIZATION AND POSSIBLE IMPLICATIONS FOR DISEASE MODULATIONDoring, Jessica; Ferrari, Simone; Monziani, Alan; Pegorar, Claudio Oss; Tripathi, Takshashila; Di Leva, Francesca; Kerschbamer, Emanuela; Mattis, Virginia B.; Dieterich, Christoph; Dassi, Erik; Wheeler, Vanessa C.; Hansikova, Hana; Ellederova, Zdenka; Wilusz, Jeremy E.; Biagioli, Marta Share Save Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirectionRoy, Jennie C. L.; Vitalo, Antonia; Andrew, Marissa A.; Mota-Silva, Eduarda; Kovalenko, Marina; Burch, Zoe; Nhu, Anh M.; Cohen, Paula E.; Grabczyk, Ed; Wheeler, Vanessa C.; Pinto, Ricardo Mouro Share Save Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease miceKovalenko, Marina; Erdin, Serkan; Andrew, Marissa A.; St Claire, Jason; Shaughnessey, Melissa; Hubert, Leroy; Neto, Joao Luis; Stortchevoi, Alexei; Fass, Daniel M.; Pinto, Ricardo Mouro; Haggarty, Stephen J.; Wilson, John H.; Talkowski, Michael E.; Wheeler, Vanessa C. Share Save Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-outLoupe, Jacob M.; Pinto, Ricardo Mouro; Kim, Kyung-Hee; Gillis, Tammy; Mysore, Jayalakshmi S.; Andrew, Marissa A.; Kovalenko, Marina; Murtha, Ryan; Seong, IhnSik; Gusella, James F.; Kwak, Seung; Howland, David; Lee, Ramee; Lee, Jong-Min; Wheeler, Vanessa C.; MacDonald, Marcy E. Share Save Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1Pinto, Ricardo Mouro; Arning, Larissa; Giordano, James, V; Razghandi, Pedram; Andrew, Marissa A.; Gillis, Tammy; Correia, Kevin; Mysore, Jayalakshmi S.; Urtubey, Debora-M Grote; Parwez, Constanze R.; von Hein, Sarah M.; Clark, H. Brent; Huu Phuc Nguyen; Forster, Eckart; Beller, Allison; Jayadaev, Suman; Keene, C. Dirk; Bird, Thomas D.; Lucente, Diane; Vonsattel, Jean-Paul; Orr, Harry; Saft, Carsten; Petrasch-Parwez, Elisabeth; Wheeler, Vanessa C. Share Save Assessing average somatic CAG repeat instability at the protein levelAviolat, Hubert; Pinto, Ricardo Mouro; Godschall, Elizabeth; Murtha, Ryan; Richey, Hannah E.; Sapp, Ellen; Vodicka, Petr; Wheeler, Vanessa C.; Kegel-Gleason, Kimberly B.; DiFiglia, Marian Share Save Transcriptional regulatory networks underlying gene expression changes in Huntington's diseaseAment, Seth A.; Pearl, Jocelynn R.; Cantle, Jeffrey P.; Bragg, Robert M.; Skene, Peter J.; Coffey, Sydney R.; Bergey, Dani E.; Wheeler, Vanessa C.; MacDonald, Marcy E.; Baliga, Nitin S.; Rosinski, Jim; Hood, Leroy E.; Carroll, Jeffrey B.; Price, Nathan D. Share Save Haplotype-based stratification of Huntington's diseaseChao, Michael J.; Gillis, Tammy; Atwal, Ranjit S.; Mysore, Jayalakshmi Srinidhi; Arjomand, Jamshid; Harold, Denise; Holmans, Peter; Jones, Lesley; Orth, Michael; Myers, Richard H.; Kwak, Seung; Wheeler, Vanessa C.; MacDonald, Marcy E.; Gusella, James F.; Lee, Jong-Min Share Save A modifier of Huntington's disease onset at the MLH1 locusLee, Jong-Min; Chao, Michael J.; Harold, Denise; Abu Elneel, Kawther; Gillis, Tammy; Holmans, Peter; Jones, Lesley; Orth, Michael; Myers, Richard H.; Kwak, Seung; Wheeler, Vanessa C.; MacDonald, Marcy E.; Gusella, James F. Share Save Polyglutamine-Expanded Huntingtin Exacerbates Age-Related Disruption of Nuclear Integrity and Nucleocytoplasmic TransportGasset-Rosa, Fatima; Chillon-Marinas, Carlos; Goginashvili, Alexander; Atwal, Ranjit Singh; Artates, Jonathan W.; Tabet, Ricardos; Wheeler, Vanessa C.; Bang, Anne G.; Cleveland, Don W.; Lagier-Tourenne, Clotilde Share Save High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgroundsAment, Seth A.; Pearl, Jocelynn R.; Grindeland, Andrea; Claire, Jason St.; Earls, John C.; Kovalenko, Marina; Gillis, Tammy; Mysore, Jayalakshmi; Gusella, James F.; Lee, Jong-Min; Kwak, Seung; Howland, David; Lee, Min Young; Baxter, David; Scherler, Kelsey; Wang, Kai; Geman, Donald; Carroll, Jeffrey B.; MacDonald, Marcy E.; Carlson, George; Wheeler, Vanessa C.; Price, Nathan D.; Hood, Leroy E. Share Save Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.HttQ111/+ model of Huntington's diseaseBragg, Robert M.; Coffey, Sydney R.; Weston, Rory M.; Ament, Seth A.; Cantle, Jeffrey P.; Minnig, Shawn; Funk, Cory C.; Shuttleworth, Dominic D.; Woods, Emily L.; Sullivan, Bonnie R.; Jones, Lindsey; Glickenhaus, Anne; Anderson, John S.; Anderson, Michael D.; Dunnett, Stephen B.; Wheeler, Vanessa C.; MacDonald, Marcy E.; Brooks, Simon P.; Price, Nathan D.; Carroll, Jeffrey B. Share Save Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In MiceLuis Neto, Joao; Lee, Jong-Min; Afridi, Ali; Gillis, Tammy; Guide, Jolene R.; Dempsey, Stephani; Lager, Brenda; Alonso, Isabel; Wheeler, Vanessa C.; Pinto, Ricardo Mouro Share Save HTT CAG KNOCK-IN MICE WITH PURE AND INTERRUPTED REPEAT TRACTS PROVIDE INSIGHT INTO THE ROLE OF SOMATIC EXPANSION IN HD PATHOGENESISWheeler, Vanessa C.; Kovalenko, Marina; Giordano, James; Andrew, Marissa; Menalled, Liliana; Alexandrov, Vadim; Thiede, Christina; Weidner, Jenny; Teichmann, Kerstin; Tottey, William; Cumming, Sarah A.; Correia, Kevin; Barker, Douglas; Lager, Brenda; Flynn, Geraldine; Fischer, David F.; Tillack, Karsten; Monckton, Darren G.; Brunner, Dani; Ramboz, Sylvie; Kwak, Seung; Howland, David Share Save 
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