Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Pamela J. Keagle"'
Autor:
Salome Funes, Jonathan Jung, Del Hayden Gadd, Michelle Mosqueda, Jianjun Zhong, Shankaracharya, Matthew Unger, Karly Stallworth, Debra Cameron, Melissa S. Rotunno, Pepper Dawes, Megan Fowler-Magaw, Pamela J. Keagle, Justin A. McDonough, Sivakumar Boopathy, Miguel Sena-Esteves, Jeffrey A. Nickerson, Cathleen Lutz, William C. Skarnes, Elaine T. Lim, Dorothy P. Schafer, Francesca Massi, John E. Landers, Daryl A. Bosco
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-25 (2024)
Abstract Microglia play a pivotal role in neurodegenerative disease pathogenesis, but the mechanisms underlying microglia dysfunction and toxicity remain to be elucidated. To investigate the effect of neurodegenerative disease-linked genes on the int
Externí odkaz:
https://doaj.org/article/2c85d3969eb543aa96ee0dead9833143
Autor:
Desiree M. Baron, Adam R. Fenton, Sara Saez-Atienzar, Anthony Giampetruzzi, Aparna Sreeram, Shankaracharya, Pamela J. Keagle, Victoria R. Doocy, Nathan J. Smith, Eric W. Danielson, Megan Andresano, Mary C. McCormack, Jaqueline Garcia, Valérie Bercier, Ludo Van Den Bosch, Jonathan R. Brent, Claudia Fallini, Bryan J. Traynor, Erika L.F. Holzbaur, John E. Landers
Publikováno v:
Cell Reports, Vol 39, Iss 1, Pp 110598- (2022)
Summary: Understanding the pathogenic mechanisms of disease mutations is critical to advancing treatments. ALS-associated mutations in the gene encoding the microtubule motor KIF5A result in skipping of exon 27 (KIF5AΔExon27) and the encoding of a p
Externí odkaz:
https://doaj.org/article/41f4ac2c79914783b41ee67f3202e865
Autor:
Jonathan D Glass, Ramita Dewan, Jinhui Ding, J Raphael Gibbs, Clifton Dalgard, Pamela J Keagle, null Shankaracharya, Alberto García-Redondo, Bryan J Traynor, Ruth Chia, John E Landers
Publikováno v:
Brain
Intermediate CAG (polyQ) expansions in the gene ataxin-2 (ATXN2) are now recognized as a risk factor for amyotrophic lateral sclerosis. The threshold for increased risk is not yet firmly established, with reports ranging from 27 to 31 repeats. We inv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66c04319da47b6f791d8df87603fd12c
https://doi.org/10.1093/brain/awac167
https://doi.org/10.1093/brain/awac167
Autor:
Marka van Blitterswijk, Eric T Wang, Brad A Friedman, Pamela J Keagle, Patrick Lowe, Ashley Lyn Leclerc, Leonard H van den Berg, David E Housman, Jan H Veldink, John E Landers
Publikováno v:
PLoS ONE, Vol 8, Iss 4, p e60788 (2013)
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease resulting in severe muscle weakness and eventual death by respiratory failure. Although little is known about its pathogenesis, mutations in fused in sarcoma/translated in liposarcoma
Externí odkaz:
https://doaj.org/article/6c55d7afe3a94fe89d5ecaa1a295fd52