Deep behavioural phenotyping of the Q175 Huntington disease mouse model: effects of age, sex, and weight

Autor: Ellen T. Koch, Judy Cheng, Daniel Ramandi, Marja D. Sepers, Alex Hsu, Tony Fong, Timothy H. Murphy, Eric Yttri, Lynn A. Raymond

Publikováno v: BMC Biology, Vol 22, Iss 1, Pp 1-19 (2024)

Abstract Background Huntington disease (HD) is a neurodegenerative disorder with complex motor and behavioural manifestations. The Q175 knock-in mouse model of HD has gained recent popularity as a genetically accurate model of the human disease. Howe

Externí odkaz: https://doaj.org/article/abbc69e7a5c44729926d173be44cabc4

Refining the diagnosis of Huntington Disease: The PREDICT-HD study

Autor: Kevin M Biglan, Ying eZhang, Jeffery eLong, Michael eGeschwind, Gail eKang, Annie eKilloran, Wenjing eLu, Elizabeth eMcCusker, James A Mills, Lynn A Raymond, Claudia eTesta, Joanne eWojcieszek, Jane S Paulsen

Publikováno v: Frontiers in Aging Neuroscience, Vol 5 (2013)

Participants with the gene expansion for Huntington disease (HD) but not yet diagnosed were evaluated annually. Unidimensional diagnosis (UD) was a motor diagnosis defined as a diagnostic confidence level (DCL) of 4 (unequivocal motor signs, ≥99% c

Externí odkaz: https://doaj.org/article/79656b730b5e4e75a0303cdb3dead42b

Safety and efficacy of valbenazine for the treatment of chorea associated with Huntington's disease (KINECT-HD): a phase 3, randomised, double-blind, placebo-controlled trial

Autor: Erin Furr Stimming, Daniel O Claassen, Elise Kayson, Jody Goldstein, Raja Mehanna, Hui Zhang, Grace S Liang, Dietrich Haubenberger, Jamie Adams, Christopher Beck, Cheryl Chen, Martha Nance, Claudia Testa, Patricia Huffman, Amy Chesire, Frederick Marshall, Praveen Dayalu, Angela Stovall, Deborah Hall, Jacob Hawkins, Letty Ginsburg, Henry Moore, Tiago Mestre, Tanya Thompson, Natalie Connors, H. Diana Rosas, Allison Daley, Sandra K. Kostyk, Casey Mitchell, Amy Hellman, Sheryl Houston, Danielle Buchanan, Katherine McDonell, Stewart A. Factor, Elaine Sperin, Andrea Hurt, Joanne Wojcieszek, Mike Adurogbangba, Lynn A. Raymond, Jody Corey-Bloom, Chase Snell, Courtney Blair, Victor Sung, Sophia Antonioli, Jacqueline Fung, Simon Laganiere, Luis Sierra, William M. Mallonee, Greg Suter, Danny Bega, Zsa Zsa Brown, Lawrence Elmer, Nancy Vollmar, Debra del Castillo, Yi-Han Lin, Kelly Andrzejewski, Patricia Weigel, Trevor Hawkins, Kendra Kirby, Cimmaron Retzik-Stahr, Lauren Seeberger, Rohit Dhall, Anja Rassmann, McKenzie Luxmore, Burton Scott, James Boyd, Katherine Chan, Nikolaus McFarland, Kyle Rizer, Patricia Conlon, Valerie Suski, Federico Rodriguez-Porcel, Sandra Wilson, Christine Farrell, David Hunter, David Houghton, Sarah Seoane, Clare Gibbons, Philippe Rizek, Robin Kuprewicz, Steven Lo, Miroslav Cuturic, Vicki Segro, Kate Greenly, Fredy Revilla, Enrique Urrea-Mendoza, Kevin J. Black, Thomas Davis, Natividad Stover, Andrew Duker, Jay Van Gerpen, Peter Hedera, William Ondo, Karen Anderson, Stephen Bradley, Ken Cheung, Samuel Frank

Publikováno v: The Lancet Neurology. 22:494-504

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d9521bbc7c5886201c53a98dc988016d
https://doi.org/10.1016/s1474-4422(23)00127-8

Impairment and Restoration of Homeostatic Plasticity in Cultured Cortical Neurons From a Mouse Model of Huntington Disease

Autor: Amy I. Smith-Dijak, Wissam B. Nassrallah, Lily Y. J. Zhang, Michal Geva, Michael R. Hayden, Lynn A. Raymond

Publikováno v: Frontiers in Cellular Neuroscience, Vol 13 (2019)

Huntington disease (HD) is an inherited neurodegenerative disorder caused by a mutation in the huntingtin gene. The onset of symptoms is preceded by synaptic dysfunction. Homeostatic synaptic plasticity (HSP) refers to processes that maintain the sta

Externí odkaz: https://doaj.org/article/e96ca48365e947b3aff8e9ccdb535974

Impaired development of cortico-striatal synaptic connectivity in a cell culture model of Huntington's disease

Autor: Caodu Buren, Matthew P. Parsons, Amy Smith-Dijak, Lynn A. Raymond

Publikováno v: Neurobiology of Disease, Vol 87, Iss , Pp 80-90 (2016)

Huntington's disease (HD) is a genetically inherited neurodegenerative disease caused by a mutation in the gene encoding the huntingtin protein. This mutation results in progressive cell death that is particularly striking in the striatum. Recent evi

Externí odkaz: https://doaj.org/article/69503d38398843d8b380997d19fb92c7