Zobrazeno 1 - 10
of 138
pro vyhledávání: '"Thomas M, Durcan"'
Autor:
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S. Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G. Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G. El Said, Tawfiq Froukh, Harinder K. Gill, Joseph G. Gleeson, Laura Gogoll, Elaine S.-Y. Goh, Vykuntaraju K. Gowda, Tobias B. Haack, Mais O. Hashem, Stefan Hauser, Trevor L. Hoffman, Jacob S. Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G. Karimiani, Silke Kaulfuß, G. Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J. Marco, Kirsty McWalter, Arakel Minassian, Berge A. Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M. Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G. Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C. Spillmann, Varunvenkat M. Srinivasan, Paria N. Torbati, Tulay Tos, Undiagnosed Diseases Network, Maha S. Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M. Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Gaurav K. Varshney, Reza Maroofian, David A. Rudko, Peter S. McPherson
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Abstract Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a
Externí odkaz:
https://doaj.org/article/67b9cc39749f4c32a8e5662c1d902770
Autor:
Rhalena A. Thomas, Julien Sirois, Shuming Li, Alexandre Gestin, Ghislaine Deyab, Valerio E.C. Piscopo, Paula Lépine, Meghna Mathur, Carol X.-Q. Chen, Vincent Soubannier, Taylor M. Goldsmith, Lama Fawaz, Thomas M. Durcan, Edward A. Fon
Publikováno v:
iScience, Vol 27, Iss 9, Pp 110613- (2024)
Summary: Motivated by the cellular heterogeneity in complex tissues, particularly in brain and induced pluripotent stem cell (iPSC)-derived brain models, we developed a complete workflow to reproducibly characterize cell types in complex tissues. Our
Externí odkaz:
https://doaj.org/article/f65f751226414cb1877eddbb929b47f0
Autor:
Benoit Coulombe, Thomas M. Durcan, Geneviève Bernard, Asmae Moursli, Christian Poitras, Denis Faubert, Maxime Pinard
Publikováno v:
Molecular Brain, Vol 17, Iss 1, Pp 1-6 (2024)
Abstract One of the main burdens in the treatment of diseases is imputable to the delay between the appearance of molecular dysfunctions in the first affected disease cells and their presence in sufficient number for detection in specific tissues or
Externí odkaz:
https://doaj.org/article/df6d4670d5a74ff49d36a29030c101b2
Autor:
Marie-France Dorion, Diana Casas, Irina Shlaifer, Moein Yaqubi, Peter Fleming, Nathan Karpilovsky, Carol X.-Q. Chen, Michael Nicouleau, Valerio E. C. Piscopo, Emma J. MacDougall, Aeshah Alluli, Taylor M. Goldsmith, Alexandria Schneider, Samuel Dorion, Nathalia Aprahamian, Adam MacDonald, Rhalena A. Thomas, Roy W. R. Dudley, Jeffrey A. Hall, Edward A. Fon, Jack P. Antel, Jo Anne Stratton, Thomas M. Durcan, Roberta La Piana, Luke M. Healy
Publikováno v:
Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-26 (2024)
Abstract Background Induced pluripotent stem cell-derived microglia (iMGL) represent an excellent tool in studying microglial function in health and disease. Yet, since differentiation and survival of iMGL are highly reliant on colony-stimulating fac
Externí odkaz:
https://doaj.org/article/aa6be16cdc4045c0b1747096bb52aa8a
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-14 (2024)
Abstract The fatal motor neuron (MN) disease Amyotrophic Lateral Sclerosis (ALS) is characterized by progressive MN degeneration. Phrenic MNs (phMNs) controlling the activity of the diaphragm are prone to degeneration in ALS, leading to death by resp
Externí odkaz:
https://doaj.org/article/078cfe787e3142ed94591df421abc24d
Autor:
Raymond G. Flax, Peter Rosston, Cecilia Rocha, Brian Anderson, Jacob L. Capener, Thomas M. Durcan, David H. Drewry, Panagiotis Prinos, Alison D. Axtman
Publikováno v:
Frontiers in Molecular Biosciences, Vol 11 (2024)
Cilia are cellular signaling hubs. Given that human kinases are central regulators of signaling, it is not surprising that kinases are key players in cilia biology. In fact, many kinases modulate ciliogenesis, which is the generation of cilia, and di
Externí odkaz:
https://doaj.org/article/075eef47e68a4433b9e2079571529b77
Autor:
Lenka Schorova, Nathalie Bedard, Anouar Khayachi, Hung-Hsiang Ho, Joao Bolivar-Pedroso, Julie Huynh, Mikaela Piccirelli, Yifei Wang, Marie Plourde, Wen Luo, Esther del Cid-Pellitero, Irina Shlaifer, María José Castellanos-Montiel, Ziqi Yu, Dulce Valeria Carrillo Valenzuela, María Lacalle-Aurioles, Anita Kriz, Yihong Ye, Thomas M. Durcan, Simon S. Wing
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-16 (2023)
Abstract The USP19 deubiquitinase is found in a locus associated with Parkinson’s Disease (PD), interacts with chaperonins, and promotes secretion of α-synuclein (α-syn) through the misfolding-associated protein secretion (MAPS) pathway. Since th
Externí odkaz:
https://doaj.org/article/976adaa7653347f3b014022aafcd2739
Autor:
Anelya Gandy, Gilles Maussion, Sara Al-Habyan, Michael Nicouleau, Zhipeng You, Carol X.-Q. Chen, Narges Abdian, Nathalia Aprahamian, Andrea I. Krahn, Louise Larocque, Thomas M. Durcan, Eric Deneault
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 17, p 9493 (2024)
With emerging genetic association studies, new genes and pathways are revealed as causative factors in the development of Parkinson’s disease (PD). However, many of these PD genes are poorly characterized in terms of their function, subcellular loc
Externí odkaz:
https://doaj.org/article/057512424c114bf98312878aaf8b414e
Autor:
Benoit Coulombe, Alexandra Chapleau, Julia Macintosh, Thomas M. Durcan, Christian Poitras, Yena A. Moursli, Denis Faubert, Maxime Pinard, Geneviève Bernard
Publikováno v:
Biomolecules, Vol 14, Iss 7, p 857 (2024)
Cell-based interception and precision medicine is a novel approach aimed at improving healthcare through the early detection and treatment of diseased cells. Here, we describe our recent progress towards developing cell-based interception and precisi
Externí odkaz:
https://doaj.org/article/59f82f879a0f4e19b95ab6a3f9e17e76
Autor:
Riham Ayoubi, Joel Ryan, Michael S Biddle, Walaa Alshafie, Maryam Fotouhi, Sara Gonzalez Bolivar, Vera Ruiz Moleon, Peter Eckmann, Donovan Worrall, Ian McDowell, Kathleen Southern, Wolfgang Reintsch, Thomas M Durcan, Claire Brown, Anita Bandrowski, Harvinder Virk, Aled M Edwards, Peter McPherson, Carl Laflamme
Publikováno v:
eLife, Vol 12 (2023)
Antibodies are critical reagents to detect and characterize proteins. It is commonly understood that many commercial antibodies do not recognize their intended targets, but information on the scope of the problem remains largely anecdotal, and as suc
Externí odkaz:
https://doaj.org/article/bac269b88e3b4d2f897fb9ef14c58a24