Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Rita Sattler"'
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:
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:
Advances in Neurobiology ISBN: 9783319896885
The molecular process of RNA editing allows changes in RNA transcripts that increase genomic diversity. These highly conserved RNA editing events are catalyzed by a group of enzymes known as adenosine deaminases acting on double-stranded RNA (ADARs).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0bc44ee391219f84dbd04cd2327dc408
https://doi.org/10.1007/978-3-319-89689-2_3
https://doi.org/10.1007/978-3-319-89689-2_3
Autor:
Rita Sattler, Alexander Starr
Publikováno v:
Brain research. 1693
Amyotrophic lateral sclerosis (ALS) is characterized by a progressive degeneration of upper and lower motor neurons, resulting in fatal paralysis due to denervation of the muscle. Due to genetic, pathological and symptomatic overlap, ALS is now consi
Publikováno v:
Neurodegenerative Disease Management. 4:417-437
SUMMARY Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive motor neuron degeneration. The disease pathogenesis is multifaceted in that multiple cellular and molecular pathways have been identified a
Autor:
Christopher J. Donnelly, Jeffrey D. Rothstein, Eric A J Simko, Aaron R. Haeusler, Juan C. Troncoso, Nicholas J. Maragakis, Min-Sik Kim, Jiou Wang, Rita Sattler, Akhilesh Pandey, Patrick G. Shaw, Goran Periz
Publikováno v:
Nature
Summary A hexanucleotide repeat expansion (HRE), (GGGGCC)n, in C9orf72 is the most common genetic cause of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we identify a molecular mechanism by
Autor:
Pentti J. Tienari, Leonard Petrucelli, Nicholas J. Maragakis, Christopher J. Donnelly, Frank Rigo, Rita Sattler, Nipun A. Mistry, Elizabeth L. Daley, Jiou Wang, Aaron R. Haeusler, Erin M. Poth, Jacqueline T. Pham, Svetlana Vidensky, Bryan J. Traynor, Daniel M. Fines, C. Frank Bennett, Jeffrey D. Rothstein, Seth Blackshaw, Ping Wu Zhang, Benjamin Hoover
Publikováno v:
Neuron. 80(2):415-428
SummaryA hexanucleotide GGGGCC repeat expansion in the noncoding region of the C9ORF72 gene is the most common genetic abnormality in familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The function of the C9O
Autor:
Michael J. Matunis, Saksham Gupta, Jiou Wang, Elizabeth L. Daley, Richard L. Huganir, Kathleen M. Cunningham, Shu Ling Chiu, Michael A. Thomas, Jeffrey D. Rothstein, Christopher J. Donnelly, Lyle W. Ostrow, Thomas E. Lloyd, Aaron R. Haeusler, Sean J. Miller, Ke Zhang, Svetlana Vidensky, James B. Machamer, Peter Steinwald, Rita Sattler, Jonathan C. Grima, Ingie Hong
Publikováno v:
Nature. 525(7567)
The hexanucleotide repeat expansion (HRE) GGGGCC (G4C2) in C9orf72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Recent studies support an HRE RNA gain-of-function mechanism of neurotoxicity, and w