Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Christopher J. Donnelly"'
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-11 (2024)
Abstract Alzheimer’s disease (AD) and more than twenty other dementias, termed tauopathies, are pathologically defined by insoluble aggregates of the microtubule-associated protein tau (MAPT). Although tau aggregation correlates with AD symptomolog
Externí odkaz:
https://doaj.org/article/63d6afaec5c74d609f4ee8baa1f19312
Autor:
Rita Sattler, Bryan J. Traynor, Janice Robertson, Ludo Van Den Bosch, Sami J. Barmada, Clive N. Svendsen, Matthew D. Disney, Tania F. Gendron, Philip C. Wong, Martin R. Turner, Adam Boxer, Suma Babu, Michael Benatar, Michael Kurnellas, Jonathan D. Rohrer, Christopher J. Donnelly, Lynette M. Bustos, Kendall Van Keuren-Jensen, Penny A. Dacks, Marwan N. Sabbagh, Attendees of the inaugural C9ORF72 FTD/ALS Summit
Publikováno v:
Neurology and Therapy, Vol 12, Iss 6, Pp 1821-1843 (2023)
Abstract A summit held March 2023 in Scottsdale, Arizona (USA) focused on the intronic hexanucleotide expansion in the C9ORF72 gene and its relevance in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS; C9ORF72-FTD/ALS). The goal
Externí odkaz:
https://doaj.org/article/29cedee3ed35403a952639263a5b1ede
Autor:
Bilal Khalil, Deepak Chhangani, Melissa C. Wren, Courtney L. Smith, Jannifer H. Lee, Xingli Li, Christian Puttinger, Chih-Wei Tsai, Gael Fortin, Dmytro Morderer, Junli Gao, Feilin Liu, Chun Kim Lim, Jingjiao Chen, Ching-Chieh Chou, Cara L. Croft, Amanda M. Gleixner, Christopher J. Donnelly, Todd E. Golde, Leonard Petrucelli, Björn Oskarsson, Dennis W. Dickson, Ke Zhang, James Shorter, Shige H. Yoshimura, Sami J. Barmada, Diego E. Rincon-Limas, Wilfried Rossoll
Publikováno v:
Molecular Neurodegeneration, Vol 17, Iss 1, Pp 1-27 (2022)
Abstract Background Cytoplasmic mislocalization and aggregation of TAR DNA-binding protein-43 (TDP-43) is a hallmark of the amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD) disease spectrum, causing both nuclear loss-of-function an
Externí odkaz:
https://doaj.org/article/bbd064334e3c44abbee70cb5d84f3100
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 13 (2023)
Solid-like protein deposits found in aged and diseased human brains have revealed a relationship between insoluble protein accumulations and the resulting deficits in neurologic function. Clinically diverse neurodegenerative diseases, including Alzhe
Externí odkaz:
https://doaj.org/article/b06044fc068044bcaf36479f7b83f546
Autor:
Ileana Lorenzini, Eric Alsop, Jennifer Levy, Lauren M. Gittings, Deepti Lall, Benjamin E. Rabichow, Stephen Moore, Ryan Pevey, Lynette M. Bustos, Camelia Burciu, Divya Bhatia, Mo Singer, Justin Saul, Amanda McQuade, Makis Tzioras, Thomas A. Mota, Amber Logemann, Jamie Rose, Sandra Almeida, Fen-Biao Gao, Michael Marks, Christopher J. Donnelly, Elizabeth Hutchins, Shu-Ting Hung, Justin Ichida, Robert Bowser, Tara Spires-Jones, Mathew Blurton-Jones, Tania F. Gendron, Robert H. Baloh, Kendall Van Keuren-Jensen, Rita Sattler
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
While motor and cortical neurons are affected in C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD), it remains largely unknown if and how non-neuronal cells induce or exacerbate neuronal damage. We differentiated C9orf72 ALS
Externí odkaz:
https://doaj.org/article/c5861f14d9984d6d91846ead3941a04a
Autor:
Amanda M. Gleixner, Brandie Morris Verdone, Charlton G. Otte, Eric N. Anderson, Nandini Ramesh, Olivia R. Shapiro, Jenna R. Gale, Jocelyn C. Mauna, Jacob R. Mann, Katie E. Copley, Elizabeth L. Daley, Juan A. Ortega, Maria Elena Cicardi, Evangelos Kiskinis, Julia Kofler, Udai B. Pandey, Davide Trotti, Christopher J. Donnelly
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
ALS and FTLD are both characterized by insoluble cytoplasmic depositions of TDP43. Here the authors show that the nucleopore protein NUP62 is mislocalized in C9orf72 and sporadic ALS/FTLD and propose that it interacts with TDP-43 to promote its insol
Externí odkaz:
https://doaj.org/article/04c38fed278645e2a4a1f52a4ea229f4
Autor:
Nandini Ramesh, Elizabeth L. Daley, Amanda M. Gleixner, Jacob R. Mann, Sukhleen Kour, Darilang Mawrie, Eric N. Anderson, Julia Kofler, Christopher J. Donnelly, Evangelos Kiskinis, Udai Bhan Pandey
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-20 (2020)
Abstract The most common genetic cause of amyotrophic lateral sclerosis (ALS) is a GGGGCC (G4C2) hexanucleotide repeat expansions in first intron of the C9orf72 gene. The accumulation of repetitive RNA sequences can mediate toxicity potentially throu
Externí odkaz:
https://doaj.org/article/1cf66c3ab0a940b798d08606fc8852ef
Autor:
Ian Casci, Karthik Krishnamurthy, Sukhleen Kour, Vadreenath Tripathy, Nandini Ramesh, Eric N. Anderson, Lara Marrone, Rogan A. Grant, Stacie Oliver, Lauren Gochenaur, Krishani Patel, Jared Sterneckert, Amanda M. Gleixner, Christopher J. Donnelly, Marc-David Ruepp, Antonella M. Sini, Emanuela Zuccaro, Maria Pennuto, Piera Pasinelli, Udai Bhan Pandey
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-20 (2019)
The exact molecular mechanisms driving FUS-mediated toxicity remain unclear. Here, the authors demonstrate that muscleblind (Mbl) is a novel modifier of FUS-associated ALS, with knockdown of endogenous Mbl suppressing neuromuscular junction defects a
Externí odkaz:
https://doaj.org/article/808f528e987e4f6fbf0a7d25207ff6ed
Autor:
Charlton G. Otte, Tyler R. Fortuna, Jacob R. Mann, Amanda M. Gleixner, Nandini Ramesh, Noah J. Pyles, Udai B. Pandey, Christopher J. Donnelly
Publikováno v:
Neurobiology of Disease, Vol 146, Iss , Pp 105078- (2020)
TDP-43 is a predominantly nuclear DNA/RNA binding protein that is often mislocalized into insoluble cytoplasmic inclusions in post-mortem patient tissue in a variety of neurodegenerative disorders including Amyotrophic Lateral Sclerosis (ALS) and Fro
Externí odkaz:
https://doaj.org/article/baa924d59c9e4f35af49422a6a7a2c8d
Autor:
In Young Choi, HoTae Lim, Kenneth Estrellas, Jyothi Mula, Tatiana V. Cohen, Yuanfan Zhang, Christopher J. Donnelly, Jean-Philippe Richard, Yong Jun Kim, Hyesoo Kim, Yasuhiro Kazuki, Mitsuo Oshimura, Hongmei Lisa Li, Akitsu Hotta, Jeffrey Rothstein, Nicholas Maragakis, Kathryn R. Wagner, Gabsang Lee
Publikováno v:
Cell Reports, Vol 15, Iss 10, Pp 2301-2312 (2016)
Duchenne muscular dystrophy (DMD) remains an intractable genetic disease. Althogh there are several animal models of DMD, there is no human cell model that carries patient-specific DYSTROPHIN mutations. Here, we present a human DMD model using human
Externí odkaz:
https://doaj.org/article/1478ff5e003d4f6bbf35140b1f2ba748