Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Martine Therrien"'
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e83450 (2013)
An expansion of the hexanucleotide GGGGCC repeat in the first intron of C9ORF72 gene was recently linked to amyotrophic lateral sclerosis. It is not known if the mutation results in a gain of function, a loss of function or if, perhaps both mechanism
Externí odkaz:
https://doaj.org/article/af36c107a2a549d085f1e2395801d139
Autor:
Alexandra Vaccaro, Shunmoogum A Patten, Sorana Ciura, Claudia Maios, Martine Therrien, Pierre Drapeau, Edor Kabashi, J Alex Parker
Publikováno v:
PLoS ONE, Vol 7, Iss 7, p e42117 (2012)
The DNA/RNA-binding proteins TDP-43 and FUS are found in protein aggregates in a growing number of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and related dementia, but little is known about the neurotoxic mechanisms. We
Externí odkaz:
https://doaj.org/article/e4b8648f7d3a4e61846ae8092628a8bc
Autor:
Nicolas Wieder, Juliana Coraor Fried, Choah Kim, Eriene-Heidi Sidhom, Matthew R. Brown, Jamie L. Marshall, Carlos Arevalo, Moran Dvela-Levitt, Maria Kost-Alimova, Jonas Sieber, Katlyn R. Gabriel, Julian Pacheco, Clary Clish, Hamdah Shafqat Abbasi, Shantanu Singh, Justine Rutter, Martine Therrien, Haejin Yoon, Zon Weng Lai, Aaron Baublis, Renuka Subramanian, Ranjan Devkota, Jonnell Small, Vedagopuram Sreekanth, Myeonghoon Han, Donghyun Lim, Anne E. Carpenter, Jason Flannick, Hilary Finucane, Marcia C. Haigis, Melina Claussnitzer, Eric Sheu, Beth Stevens, Bridget K. Wagner, Amit Choudhary, Jillian L. Shaw, Juan Lorenzo Pablo, Anna Greka
Publikováno v:
bioRxiv
SummaryCellular exposure to free fatty acids (FFA) is implicated in the pathogenesis of obesity-associated diseases. However, studies to date have assumed that a few select FFAs are representative of broad structural categories, and there are no scal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7daa44ca6aa3c52a2ff38c29c3f14b60
https://doi.org/10.1101/2023.02.19.529127
https://doi.org/10.1101/2023.02.19.529127
Autor:
Samuel E Marsh, Sarah Murphy, Tushar Kamath, Vahid Gazestani, Martine Therrien, Michael John Dolan, Sasa Jereb, Miguel Reyes, Johan Gobom, Clary Clish, Nir Hacohen, Henrik Zetterberg, Ville Leinonen, Evan Macosko, Beth Stevens
Publikováno v:
Alzheimer's & Dementia. 18
Autor:
Michael-John Dolan, Martine Therrien, Saša Jereb, Tushar Kamath, Trevor Atkeson, Samuel E. Marsh, Aleksandrina Goeva, Neal M. Lojek, Sarah Murphy, Cassandra M. White, Julia Joung, Bingxu Liu, Francesco Limone, Kevin Eggan, Nir Hacohen, Bradley E. Bernstein, Christopher K. Glass, Ville Leinonen, Mathew Blurton-Jones, Feng Zhang, Charles B. Epstein, Evan Z. Macosko, Beth Stevens
Microglia have emerged as key players in the pathogenesis of neurodegenerative conditions such as Alzheimer’s disease (AD). In response to CNS stimuli, these cells adopt distinct transcriptional and functional subtypes known as states. However, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e0f1768dc9f0a17a674fe00e9a861fa7
https://doi.org/10.1101/2022.05.02.490100
https://doi.org/10.1101/2022.05.02.490100
Autor:
Steven A. McCarroll, Brian J. Joseph, Inma Cobos, Laura Bortolin, Irena Kadiu, Sulagna Ghosh, Alexander Couto, Aaron Burberry, Daniel Meyer, Kevin Eggan, Olli Pietilainen, Melissa Goldman, Francesco Limone, Beth Stevens, Martine Therrien, Daniel A. Mordes
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disorder characterised by a progressive loss of motor function. The eponymous spinal sclerosis observed at autopsy is the result of the degeneration of extratelencephalic neurons, Betz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8831769520c89a3efdd9b877e0f309d6
https://doi.org/10.1101/2021.07.12.452054
https://doi.org/10.1101/2021.07.12.452054
Publikováno v:
Seminars in Immunology. 60:101651
Microglia are resident macrophages of the brain parenchyma and play an essential role in various aspects of brain development, plasticity, and homeostasis. With recent advances in single-cell RNA-sequencing, heterogeneous microglia transcriptional st
Autor:
Victoria F. Beja-Glasser, John G. Doench, Amanda Vernon, Myriam Heiman, Alex Powers, Medina Colic, Mudra Hegde, Ruth Kulicke, Mollie R. Mitchem, Lea J. Hachigian, Gurrein K. Madan, Manolis Kellis, Martine Therrien, Fan Gao, Vanessa Lau, Hyeseung Lee, Traver Hart, S. Sebastian Pineda, Mary H. Wertz
Publikováno v:
PMC
Neuron
Neuron
© 2020 Elsevier Inc. Unbiased in vivo genome-wide genetic screening is a powerful approach to elucidate new molecular mechanisms, but such screening has not been possible to perform in the mammalian central nervous system (CNS). Here, we report the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5b1117a2f4ec7899084a89a7693ad87
https://hdl.handle.net/1721.1/136278
https://hdl.handle.net/1721.1/136278
Autor:
Dan Spiegelman, Pingxing Xie, Martine Therrien, Amirthagowri Ambalavanan, Simon Girard, Boris Chaumette, Alexandre Dionne-Laporte, Ridha Joober, Qin He, Cynthia V. Bourassa, Judith L. Rapoport, Lan Xiong, Sirui Zhou, Guy A. Rouleau, Patrick A. Dion, Daniel Rochefort
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 180:335-340
Childhood-onset schizophrenia (COS) is a rare and severe form of schizophrenia, defined as having an onset before the age of 13. The male COS cases have a slightly younger age of onset than female cases. They also present with a higher rate of comorb
Publikováno v:
Current neurology and neuroscience reports. 16(6)
Amyotrophic lateral sclerosis (ALS) is a fatal disorder that is characterized by a progressive degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but 5–10 % of cases have a family history of the disease. High-throu