The pathological phenotypes of human TDP-43 transgenic mouse models are independent of downregulation of mouse Tdp-43.

by Ya-Fei Xu, Mercedes Prudencio, Jaime M Hubbard, Jimei Tong, Ena C Whitelaw, Karen Jansen-West, Caroline Stetler, Xiangkun Cao, John Song, Yong-Jie Zhang
Published 2013-01-01

Tau exhibits unique seeding properties in globular glial tauopathy

by Dah-eun Chloe Chung, Yari Carlomagno, Casey N. Cook, Karen Jansen-West, Lillian Daughrity, Laura J. Lewis-Tuffin, Monica Castanedes-Casey, Michael DeTure, Dennis W. Dickson, Leonard Petrucelli
Published 2019-03-01

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts

by Ricardos Tabet, Laure Schaeffer, Fernande Freyermuth, Melanie Jambeau, Michael Workman, Chao-Zong Lee, Chun-Chia Lin, Jie Jiang, Karen Jansen-West, Hussein Abou-Hamdan, Laurent Désaubry, Tania Gendron, Leonard Petrucelli, Franck Martin, Clotilde Lagier-Tourenne
Published 2018-01-01

Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy

by Jeannie Chew, Casey Cook, Tania F. Gendron, Karen Jansen-West, Giulia del Rosso, Lillian M. Daughrity, Monica Castanedes-Casey, Aishe Kurti, Jeannette N. Stankowski, Matthew D. Disney, Jeffrey D. Rothstein, Dennis W. Dickson, John D. Fryer, Yong-Jie Zhang, Leonard Petrucelli
Published 2019-02-01

Interaction of tau with the RNA-Binding Protein TIA1 Regulates tau Pathophysiology and Toxicity

by Tara Vanderweyde, Daniel J. Apicco, Katherine Youmans-Kidder, Peter E.A. Ash, Casey Cook, Edroaldo Lummertz da Rocha, Karen Jansen-West, Alissa A. Frame, Allison Citro, John D. Leszyk, Pavel Ivanov, Jose F. Abisambra, Martin Steffen, Hu Li, Leonard Petrucelli, Benjamin Wolozin
Published 2016-05-01

Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant

by Yari Carlomagno, Dah-eun Chloe Chung, Mei Yue, Aishe Kurti, Nicole M. Avendano, Monica Castanedes-Casey, Kelly M. Hinkle, Karen Jansen-West, Lillian M. Daughrity, Jimei Tong, Virginia Phillips, Rosa Rademakers, Michael DeTure, John D. Fryer, Dennis W. Dickson, Leonard Petrucelli, Casey Cook
Published 2019-01-01

Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease

by Mark T. W. Ebbert, Stefan L. Farrugia, Jonathon P. Sens, Karen Jansen-West, Tania F. Gendron, Mercedes Prudencio, Ian J. McLaughlin, Brett Bowman, Matthew Seetin, Mariely DeJesus-Hernandez, Jazmyne Jackson, Patricia H. Brown, Dennis W. Dickson, Marka van Blitterswijk, Rosa Rademakers, Leonard Petrucelli, John D. Fryer
Published 2018-08-01

Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight

by Mark T. W. Ebbert, Tanner D. Jensen, Karen Jansen-West, Jonathon P. Sens, Joseph S. Reddy, Perry G. Ridge, John S. K. Kauwe, Veronique Belzil, Luc Pregent, Minerva M. Carrasquillo, Dirk Keene, Eric Larson, Paul Crane, Yan W. Asmann, Nilufer Ertekin-Taner, Steven G. Younkin, Owen A. Ross, Rosa Rademakers, Leonard Petrucelli, John D. Fryer
Published 2019-05-01

Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

by Tiffany W. Todd, Zachary T. McEachin, Jeannie Chew, Alexander R. Burch, Karen Jansen-West, Jimei Tong, Mei Yue, Yuping Song, Monica Castanedes-Casey, Aishe Kurti, Judith H. Dunmore, John D. Fryer, Yong-Jie Zhang, Beatriz San Millan, Susana Teijeira Bautista, Manuel Arias, Dennis Dickson, Tania F. Gendron, María-Jesús Sobrido, Matthew D. Disney, Gary J. Bassell, Wilfried Rossoll, Leonard Petrucelli
Published 2020-05-01