Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Diane, Lucente"'
Autor:
Zachariah L. McLean, Dadi Gao, Kevin Correia, Jennie C. L. Roy, Shota Shibata, Iris N. Farnum, Zoe Valdepenas-Mellor, Marina Kovalenko, Manasa Rapuru, Elisabetta Morini, Jayla Ruliera, Tammy Gillis, Diane Lucente, Benjamin P. Kleinstiver, Jong-Min Lee, Marcy E. MacDonald, Vanessa C. Wheeler, Ricardo Mouro Pinto, James F. Gusella
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Huntington’s disease (HD) is a dominant neurological disorder caused by an expanded HTT exon 1 CAG repeat that lengthens huntingtin’s polyglutamine tract. Lowering mutant huntingtin has been proposed for treating HD, but genetic modifier
Externí odkaz:
https://doaj.org/article/04c90e61e38c4922b3fb3425418eb127
Autor:
Philip Boone, Kamli Faour, Kiana Mohajeri, John Lemanski, Bimal Jana, Jack Fu, Jennifer Kerkhof, Haley McConkey, Ryan Collins, Diane Lucente, Celine de Esch, Mariana Moysés-Oliveira, Alexander Nuttle, Aloysius Domingo, Serkan Erdin, Maris Hanley, Amy Watt, Eric Surette, Gloria Lima, Laura Smith, Monica Salani, Rachita Yadav, Ricardo Harripaul, Kathryn O’Keefe, Nicholas Burt, Matthew Larson, Riya Bhavsar, Benjamin Currall, Susan Sell, Roger Ladda, LaDonna Immken, Catherine Buchanan, Bo Yuan, Sally Lynch, Christian Gilissen, Rolph Pfundt, Charlotte Ockeloen, Tjitske Kleefstra, Els Vanhoutte, Margje Sinnema, Sander Stegmann, Servi Stevens, Maria Iascone, Silvia Maitz, Benjamin Cogne, Cedric Le Caignec, Marie Vincent, Mathilde Nizon, Alison Male, Pankaj Agrawal, Michelle Thompson, Pernille Torring, Charlotte Brasch-Andersen, Laurence Faivre, Ange-Line Bruel, Bertrand Isidor, Christophe Philippe, Manuela Morleo, Monica Wojcik, Casie Genetti, Siddharth Srivastava, Sonia Ballal, Sophia Schließke, Rami Abou Jamra, Andree Delahaye, Lydia von Wintzingerode, Viktoria Bothe, Marine Houlier, Timothy Stout, Gaber Bergant, Borut Peterlin, Oana Moldovan, Núria Martínez-Gil, Emanuela Argilli, Elliott Sherr, Tamar Harel, Hallel Rosenberg-Fogler, Jill Rosenfeld, Ingrid Wentzensen, Dominik Westphal, Korbinian Riedhammer, Laura Orec, James Gusella, Bekim Sadikovic, Derek Tai, Michael Talkowski
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100188- (2023)
Externí odkaz:
https://doaj.org/article/63607ac1340c4282b5f0385f8b733957
Autor:
M. Catarina Silva, Ghata A. Nandi, Sharon Tentarelli, Ian K. Gurrell, Tanguy Jamier, Diane Lucente, Bradford C. Dickerson, Dean G. Brown, Nicholas J. Brandon, Stephen J. Haggarty
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Disruption of autophagy function in cellular and animal models of tauopathy increases tau aggregation. Here, the authors describe a small-molecule screen to identify compounds that promote autophagy clearance of tau and rescue disease-relevant phenot
Externí odkaz:
https://doaj.org/article/8c984694d54f4d749b8a1bed03dbaffc
Autor:
John Kornak, Julie Fields, Walter Kremers, Sara Farmer, Hilary W. Heuer, Leah Forsberg, Danielle Brushaber, Amy Rindels, Hiroko Dodge, Sandra Weintraub, Lilah Besser, Brian Appleby, Yvette Bordelon, Jessica Bove, Patrick Brannelly, Christina Caso, Giovanni Coppola, Reilly Dever, Christina Dheel, Bradford Dickerson, Susan Dickinson, Sophia Dominguez, Kimiko Domoto‐Reilly, Kelley Faber, Jessica Ferrall, Ann Fishman, Jamie Fong, Tatiana Foroud, Ralitza Gavrilova, Deb Gearhart, Behnaz Ghazanfari, Nupur Ghoshal, Jill Goldman, Jonathan Graff‐Radford, Neill Graff‐Radford, Ian M. Grant, Murray Grossman, Dana Haley, John Hsiao, Robin Hsiung, Edward D. Huey, David Irwin, David Jones, Lynne Jones, Kejal Kantarci, Anna Karydas, Daniel Kaufer, Diana Kerwin, David Knopman, Ruth Kraft, Joel Kramer, Walter Kukull, Maria Lapid, Irene Litvan, Peter Ljubenkov, Diane Lucente, Codrin Lungu, Ian Mackenzie, Miranda Maldonado, Masood Manoochehri, Scott McGinnis, Emily McKinley, Mario Mendez, Bruce Miller, Namita Multani, Chiadi Onyike, Jaya Padmanabhan, Alexander Pantelyat, Rodney Pearlman, Len Petrucelli, Madeline Potter, Rosa Rademakers, Eliana Marisa Ramos, Katherine Rankin, Katya Rascovsky, Erik D. Roberson, Emily Rogalski‐Miller, Pheth Sengdy, Les Shaw, Adam M. Staffaroni, Margaret Sutherland, Jeremy Syrjanen, Carmela Tartaglia, Nadine Tatton, Joanne Taylor, Arthur Toga, John Trojanowski, Ping Wang, Bonnie Wong, Zbigniew Wszolek, Brad Boeve, Adam Boxer, Howard Rosen, ARTFL/LEFFTDS Consortium
Publikováno v:
Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 11, Iss 1, Pp 797-808 (2019)
Abstract Introduction Conventional Z‐scores are generated by subtracting the mean and dividing by the standard deviation. More recent methods linearly correct for age, sex, and education, so that these “adjusted” Z‐scores better represent whe
Externí odkaz:
https://doaj.org/article/a6622d356e19452690bcb069ec439d27
Autor:
Bonnie Wong, Diane Lucente, Samantha Krivensky, Erin Krahn, Jason Karlawish, Bradford C. Dickerson
Publikováno v:
Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 13, Iss 1, Pp n/a-n/a (2021)
Abstract Introduction The decision to undergo genetic testing for familial frontotemporal dementia (fFTD) is challenging and complex. When counseling individuals, clinicians need to know what individuals understand about the type of fFTD for which th
Externí odkaz:
https://doaj.org/article/82b03b1326c843f9b730399bf7afbaca
Autor:
Kiana Mohajeri, Rachita Yadav, Eva D'haene, Philip M. Boone, Serkan Erdin, Dadi Gao, Mariana Moyses-Oliveira, Riya Bhavsar, Benjamin B. Currall, Kathryn O'Keefe, Nicholas D. Burt, Chelsea Lowther, Diane Lucente, Monica Salani, Mathew Larson, Claire Redin, Olga Dudchenko, Erez Lieberman Aiden, Björn Menten, Derek J.C. Tai, James F. Gusella, Sarah Vergult, Michael E. Talkowski
Publikováno v:
Am J Hum Genet
Point mutations and structural variants that directly disrupt the coding sequence of MEF2C have been associated with a spectrum of neurodevelopmental disorders (NDDs). However, the impact of MEF2C haploinsufficiency on neurodevelopmental pathways and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3302a269894880df0173a1479433c2f
https://doi.org/10.1016/j.ajhg.2022.09.015
https://doi.org/10.1016/j.ajhg.2022.09.015
Autor:
Derek J.C. Tai, Parisa Razaz, Serkan Erdin, Dadi Gao, Jennifer Wang, Xander Nuttle, Celine E. de Esch, Ryan L. Collins, Benjamin B. Currall, Kathryn O’Keefe, Nicholas D. Burt, Rachita Yadav, Lily Wang, Kiana Mohajeri, Tatsiana Aneichyk, Ashok Ragavendran, Alexei Stortchevoi, Elisabetta Morini, Weiyuan Ma, Diane Lucente, Alex Hastie, Raymond J. Kelleher, Roy H. Perlis, Michael E. Talkowski, James F. Gusella
Publikováno v:
Am J Hum Genet
Chromosome 16p11.2 reciprocal genomic disorder, resulting from recurrent copy-number variants (CNVs), involves intellectual disability, autism spectrum disorder (ASD), and schizophrenia, but the responsible mechanisms are not known. To systemically d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aae9372a8a534d712ac1e5725adff28
https://doi.org/10.1016/j.ajhg.2022.08.012
https://doi.org/10.1016/j.ajhg.2022.08.012
Autor:
Michael J Chao, Kyung-Hee Kim, Jun Wan Shin, Diane Lucente, Vanessa C Wheeler, Hong Li, Jared C Roach, Leroy Hood, Nancy S Wexler, Laura B Jardim, Peter Holmans, Lesley Jones, Michael Orth, Seung Kwak, Marcy E MacDonald, James F Gusella, Jong-Min Lee
Publikováno v:
PLoS Genetics, Vol 14, Iss 5, p e1007274 (2018)
Modifiers of Mendelian disorders can provide insights into disease mechanisms and guide therapeutic strategies. A recent genome-wide association (GWA) study discovered genetic modifiers of Huntington's disease (HD) onset in Europeans. Here, we perfor
Externí odkaz:
https://doaj.org/article/5931f4866f45429eade3b1d4c42f0e25
Autor:
Roy Jung, Seung Kwak, Jonathan Picker, Tammy Gillis, Diane Lucente, Douglas Barker, Baehyun Shin, David Howland, Ramee Lee, James F. Gusella, Lance H. Rodan, Marcy E. MacDonald, Yejin Lee, Jong-Min Lee, Jayla Ruliera, Jacob M. Loupe, Ihn Sik Seong, Jayalakshmi S. Mysore, Kevin Correia, Ryan L. Collins
Publikováno v:
Hum Mol Genet
Huntington’s disease pathogenesis involves a genetic gain-of-function toxicity mechanism triggered by the expanded HTT CAG repeat. Current therapeutic efforts aim to suppress expression of total or mutant huntingtin, though the relationship of hunt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2610e7042074e7b94a21b438c8eaf716
https://doi.org/10.1093/hmg/ddaa283
https://doi.org/10.1093/hmg/ddaa283
Autor:
Stephen J. Haggarty, Bradford C. Dickerson, Diane Lucente, Dean G. Brown, Nicholas J. Brandon, Tanguy Jamier, Ian Gurrell, Ghata Nandi, Sharon Tentarelli, M. Catarina Silva
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Nature Communications
Nature Communications
Tauopathies are neurodegenerative diseases associated with accumulation of abnormal tau protein in the brain. Patient iPSC-derived neuronal cell models replicate disease-relevant phenotypes ex vivo that can be pharmacologically targeted for drug disc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9827598c95edf552d1ed282735d38a83
http://link.springer.com/article/10.1038/s41467-020-16984-1
http://link.springer.com/article/10.1038/s41467-020-16984-1