Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Beth Borowsky"'
Autor:
Caroline Gubser Keller, Youngah Shin, Alex Mas Monteys, Nicole Renaud, Martin Beibel, Natalia Teider, Thomas Peters, Thomas Faller, Sophie St-Cyr, Judith Knehr, Guglielmo Roma, Alejandro Reyes, Marc Hild, Dmitriy Lukashev, Diethilde Theil, Natalie Dales, Jang-Ho Cha, Beth Borowsky, Ricardo Dolmetsch, Beverly L. Davidson, Rajeev Sivasankaran
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-11 (2022)
Huntington’s disease (HD) results from the abnormal expansion of CAG repeats in exon 1 of the HTT gene. Here, the authors show that orally available, brain penetrant molecule branaplam lowers HTT transcript by promoting inclusion of a poison exon o
Externí odkaz:
https://doaj.org/article/917384fbd2e34e4887d645320e87dd19
Autor:
Kirsi M. Kinnunen, Adam J. Schwarz, Emily C. Turner, Dorian Pustina, Emily C. Gantman, Mark F. Gordon, Richard Joules, Ariana P. Mullin, Rachael I. Scahill, Nellie Georgiou-Karistianis, The Huntington's Disease Regulatory Science Consortium (HD-RSC), Varun Aggarwal, Shazia Ali, Irina Antonijevic, Astri Arnesen, Nazem Atassi, Brian Beers, Beth Belluscio, Limor Ben Har, Angele Benard, Caroline Benn, Brian Bettencourt, Anu Bhattacharyya, Robi Blumenstein, Beth Borowsky, Bret Bostwick, Jackson Burton, Angelika Caputo, David Cooper, Brad Elmer, Rebecca Evans, Andrew Feigen, Terrence Fisher, Rebecca Fuller, Emily Gantman, Danielle Gartner, Michal Geva, Sandra Gonzalez, Adam Good, Mark Gordon, Jaya Goyal, Michael Hayden, Priyantha Herath, Steve Hersch, Jianying Hu, Elise Kayson, Eileen Koski, Bernhard Landwehrmeyer, Michelle Lax, Blair Leavitt, Dorothy Leong, Oren Levy, Enchi Liu, Jeff Long, Doug Macdonald, Jacqueline Major, Lahar Mehta, Tiago Mestre, Eric Miller, Christian Mueller, Catherine O'Riordan, Jennifer Panagoulias, Mike Panzara, Anne Pedata, Jennifer Petrillo-Billet, Dave Podskalny, Alisha Reader, Shelly Redman, Ralf Reilmann, Klaus Romero, Christopher Ross, Anne Rosser, Cristina Sampaio, Jan Samzelius, Scott Schobel, Adam Schwarz, Sudhir Sivakumaran, Jennie Socha, Glenn Stebbins, Julie Stout, Sarah Tabrizi, Emily Turner, Charles Venuto, Louise Vetter, Vissia Viglietta, Sarah Wahlstrom Helgren, Beth White, Ed Wild, George Yohrling, Maurice Zauderer
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Huntington's disease (HD) is an autosomal-dominant inherited neurodegenerative disorder that is caused by expansion of a CAG-repeat tract in the huntingtin gene and characterized by motor impairment, cognitive decline, and neuropsychiatric disturbanc
Externí odkaz:
https://doaj.org/article/ca6c677056d045fbbeff255dc7be3a75
Autor:
Stefan Klöppel, Sarah Gregory, Elisa Scheller, Lora Minkova, Adeel Razi, Alexandra Durr, Raymund A.C. Roos, Blair R. Leavitt, Marina Papoutsi, G. Bernhard Landwehrmeyer, Ralf Reilmann, Beth Borowsky, Hans Johnson, James A. Mills, Gail Owen, Julie Stout, Rachael I. Scahill, Jeffrey D. Long, Geraint Rees, Sarah J. Tabrizi
Publikováno v:
EBioMedicine, Vol 2, Iss 10, Pp 1420-1429 (2015)
Background: Cognitive and motor task performance in premanifest Huntington's disease (HD) gene-carriers is often within normal ranges prior to clinical diagnosis, despite loss of brain volume in regions involved in these tasks. This indicates ongoing
Externí odkaz:
https://doaj.org/article/6473b4fa7ed74c708218c20ead8cb358
Autor:
Thomas V Wiecki, Chrystalina A Antoniades, Alexander Stevenson, Christopher Kennard, Beth Borowsky, Gail Owen, Blair Leavitt, Raymund Roos, Alexandra Durr, Sarah J Tabrizi, Michael J Frank
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0148409 (2016)
Huntington's disease (HD) is genetically determined but with variability in symptom onset, leading to uncertainty as to when pharmacological intervention should be initiated. Here we take a computational approach based on neurocognitive phenotyping,
Externí odkaz:
https://doaj.org/article/ee4a4bf929c34bc5a6787cf325d306a6
Autor:
Andreas-Antonios Roussakis, Marta Gennaro, Mark Forrest Gordon, Ralf Reilmann, Beth Borowsky, Gail Rynkowski, Nicholas P Lao-Kaim, Zoe Papoutsou, Juha-Matti Savola, Michael R Hayden, David R Owen, Nicola Kalk, Anne Lingford-Hughes, Roger N Gunn, Graham Searle, Sarah J Tabrizi, Paola Piccini
Publikováno v:
Brain Communications. 5
Microglia activation, an indicator of central nervous system inflammation, is believed to contribute to the pathology of Huntington’s disease. Laquinimod is capable of regulating microglia. By targeting the translocator protein, 11C-PBR28 PET-CT im
Autor:
Caroline Gubser Keller, Youngah Shin, Alex Mas Monteys, Nicole Renaud, Martin Beibel, Natalia Teider, Thomas Peters, Thomas Faller, Sophie St-Cyr, Judith Knehr, Guglielmo Roma, Alejandro Reyes, Marc Hild, Dmitriy Lukashev, Diethilde Theil, Natalie Dales, Jang-Ho Cha, Beth Borowsky, Ricardo Dolmetsch, Beverly L. Davidson, Rajeev Sivasankaran
Publikováno v:
Nature communications. 13(1)
Huntington’s Disease (HD) is a progressive neurodegenerative disorder caused by CAG trinucleotide repeat expansions in exon 1 of the huntingtin (HTT) gene. The mutant HTT (mHTT) protein causes neuronal dysfunction, causing progressive motor, cognit
Autor:
Maurice Zauderer, Emily C. Gantman, Beth Borowsky, Ariana P. Mullin, Sarah J. Tabrizi, Sudhir Sivakumaran, Christopher A. Ross, Pavlina Konstantinova, Jennifer Panagoulias, Alexandra Mansbach, Klaus Romero, Jeffrey D. Long, Scott Schobel, Emily C. Turner, Cristina Sampaio, Tiago A. Mestre
BackgroundDespite the monogenic autosomal dominant nature of Huntington’s disease (HD), the current research paradigm is still based on overt clinical phenotypes and does not address disease pathobiology and biomarkers that are evident decades befo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c353bcff1f686fd698b758c178cfaca7
https://doi.org/10.1101/2021.09.01.21262503
https://doi.org/10.1101/2021.09.01.21262503
Autor:
Tiago A. Mestre, Sudhir Sivakumaran, Alexandra Mansbach, Sarah J. Tabrizi, Scott Schobel, Beth Borowsky, Christopher A. Ross, Emily C. Gantman, Maurice Zauderer, Emily C. Turner, Pavlina Konstantinova, Klaus Romero, Ariana P. Mullin, Jennifer Panagoulias, Jeffrey D. Long, Cristina Sampaio
Publikováno v:
F: Clinical studies: case reports, observational studies and trials.
Background HD is an inherited autosomal dominant neurodegenerative disease. While there is biological certainty that individuals with a pathogenic expansion in the huntingtin gene (HTT) will develop the signs and symptoms of HD within a normal lifesp
Autor:
Vissia Viglietta, Fonda Liu, Marie-Laure Rouzade-Dominguez, Marie-Emmanuelle Riviere, Yihan Sui, Udo Eichenlaub, Eric M. Reiman, Yuchen Chien, Ulf Neumann, Beth Borowsky, Matt Quinn, Nicholas Seneca, Ana Graf, Pilar Cazorla, Angelika Caputo
Publikováno v:
Alzheimer's & Dementia. 16
Autor:
Matt Quinn, Ana Graf, Pilar Cazorla, Pierre N. Tariot, Beth Borowsky, Marie-Emmanuelle Riviere, Eric M. Reiman, Vissia Viglietta, Fonda Liu, Marie-Laure Rouzade-Dominguez, Jessica B. Langbaum, Angelika Caputo, Javier Ricart, Yihan Sui
Publikováno v:
Alzheimer's & Dementia. 16