Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Rita Sattler"'
Publikováno v:
Neurochemical Research. 45:1306-1327
The widespread nature of nucleocytoplasmic trafficking defects and protein accumulation suggests distinct yet overlapping mechanisms in a variety of neurodegenerative diseases. Detailed understanding of the cellular pathways involved in nucleocytopla
Autor:
Thomas E. Mahan, Deepti Lall, David M. Holtzman, Rita Sattler, A.K.M. Ghulam Muhammad, Michael Vazquez, Jesse Landeros, Daniel H. Geschwind, Hayk Davtyan, Ileana Lorenzini, Jacqueline G. O’Rourke, Jason D. Ulrich, Thomas A. Mota, Shaughn Bell, Junwon Kim, Jessica E. Rexach, Layla Ghaffari, Oksana Shelest, Mathew Blurton-Jones, Robert H. Baloh
Publikováno v:
Neuron, vol 109, iss 14
C9orf72 repeat expansions cause inherited amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD) and result in both loss of C9orf72 protein expression and production of potentially toxic RNA and dipeptide repeat proteins. In addition to AL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a31b1ab4973804c5e9402cb574f064cf
https://escholarship.org/uc/item/9ws7v673
https://escholarship.org/uc/item/9ws7v673
Autor:
Briggs Carhart, Matthew Chaung, Taylor Wingfield, Sam Macklin-Isquierdo, Gary J. Bassell, Alexander Starr, Ileana Lorenzini, Zachary T. McEachin, Daniela C. Zarnescu, Paul R. August, Robert Bowser, Alexandre Betourne, Nadine Bakkar, Robert Kraft, Nicholas M. Boulis, Nathan Zahler, Justin K. Ichida, Samuel V. Alworth, Benjamin E. Rabichow, Wen-Hsuan Chang, Rita Sattler
Publikováno v:
Neurobiology of Disease, Vol 149, Iss, Pp 105228-(2021)
Disruption in copper homeostasis causes a number of cognitive and motor deficits. Wilson's disease and Menkes disease are neurodevelopmental disorders resulting from mutations in the copper transporters ATP7A and ATP7B, with ATP7A mutations also caus
Autor:
Ileana Lorenzini, Eric Alsop, Jennifer Levy, Lauren M Gittings, Deepti Lall, Benjamin E Rabichow, Stephen Moore, Ryan Pevey, Lynette 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
Background A mutation in the C9orf72 gene is the most common genetic mutation of familial and sporadic ALS, as well as familial FTD. While prior studies have focused on elucidating the mechanisms of neuronal dysfunction and neurodegeneration associat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ed9356d12a0c4f704bd87027f5bc041
https://doi.org/10.1101/2020.09.03.277459
https://doi.org/10.1101/2020.09.03.277459
Autor:
Marissa Dominick, Ileana Lorenzini, Robert Bowser, Bryan J. Traynor, Sara Saez-Atienzar, David X. Medina, Ashley Boehringer, Rita Sattler, Erik P. Pioro
Publikováno v:
Stem Cell Research, Vol 50, Iss, Pp 102141-(2021)
Fibroblasts from an amyotrophic lateral sclerosis patient with simultaneous mutations in the MATR3 gene and KIF5A gene were isolated and reprogrammed into induced pluripotent stem cells via a non-integrating Sendai viral vector. The generated iPSC cl
Autor:
Nadine Bakkar, Kyle Sponaugle, Ileana Lorenzini, Elenee Argentinis, Alix M. B. Lacoste, Philip Ferrante, Rita Sattler, Robert Bowser, Scott Spangler, Tina Kovalik
Publikováno v:
Acta Neuropathologica
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with no effective treatments. Numerous RNA-binding proteins (RBPs) have been shown to be altered in ALS, with mutations in 11 RBPs causing familial forms of the disease, a
Autor:
Robert S. Rogers, Konrad E. Zinsmaier, Jacob C. Schwartz, Alexander Starr, Daniela C. Zarnescu, Hiroshi Nishimune, Rita Sattler, Ileana Lorenzini, Ching Chieh Chou, Alyssa N. Coyne, Benjamin L. Zaepfel, Meaghan Torvund, Jennifer L. Levy, Wilfried Rossoll, Jeffrey Johannesmeyer
Publikováno v:
Cell Reports, Vol 21, Iss 1, Pp 110-125 (2017)
Amyotrophic lateral sclerosis (ALS) is a synaptopathy accompanied by the presence of cytoplasmic aggregates containing TDP-43, an RNA-binding protein linked to ∼97% of ALS cases. Using a Drosophila model of ALS, we show that TDP-43 overexpression (
Autor:
Jennifer L. Levy, Rebecca Reiman, Janice Robertson, Alexander Starr, Ileana Lorenzini, Jeannie Chew, Kendall Van Keuren-Jensen, Kim A. Staats, Emily Mendez, Justin K. Ichida, Veronique V. Belzil, Benjamin E. Rabichow, Leonard Petrucelli, Dennis W. Dickson, Stephen Moore, Rita Sattler, Eric Alsop, Camelia Burciu
Publikováno v:
Acta Neuropathol
The hexanucleotide repeat expansion GGGGCC (G(4)C(2))(n) in the C9orf72 gene is the most common genetic abnormality associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Recent findings suggest that dysfunction of nuc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcfea0ad544cef74547e268e93738cad
https://europepmc.org/articles/PMC6750285/
https://europepmc.org/articles/PMC6750285/
Reactivation of nonsense-mediated mRNA decay protects against C9orf72 dipeptide-repeat neurotoxicity
Autor:
Xin Jiang, Puhua Bao, Rita Sattler, Meiling Qin, Haifang Wang, Wangchao Xu, Lujian Liao, Tao Wang, Ruiqi Wang, Jin Xu, Yi Yang, Ileana Lorenzini
Publikováno v:
Brain
Impaired RNA metabolism has been implicated in amyotrophic lateral sclerosis (ALS). Xu et al. report that the nonsense-mediated mRNA decay (NMD) pathway is inhibited in C9orf72 hexanucleotide repeat expansion-associated ALS. Reactivation of the NMD p
Publikováno v:
Frontiers in Neuroscience, Vol 12 (2018)
Neurological diseases, including dementias such as Alzheimer's disease (AD) and fronto-temporal dementia (FTD) and degenerative motor neuron diseases such as amyotrophic lateral sclerosis (ALS), are responsible for an increasing fraction of worldwide