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A yeast functional ...
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Couthouis, Julien
(author)
A yeast functional screen predicts new candidate ALS disease genes
- Article/chapterEnglish2011
Publisher, publication year, extent ...
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2011-11-07
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Proceedings of the National Academy of Sciences,2011
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:umu-51465
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-51465URI
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https://doi.org/10.1073/pnas.1109434108DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:123783914URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Amyotrophic lateral sclerosis (ALS) is a devastating and universally fatal neurodegenerative disease. Mutations in two related RNA-binding proteins, TDP-43 and FUS, that harbor prion-like domains, cause some forms of ALS. There are at least 213 human proteins harboring RNA recognition motifs, including FUS and TDP-43, raising the possibility that additional RNA-binding proteins might contribute to ALS pathogenesis. We performed a systematic survey of these proteins to find additional candidates similar to TDP-43 and FUS, followed by bioinformatics to predict prion-like domains in a subset of them. We sequenced one of the segenes, TAF15, in patients with ALS and identified missense variants, which were absent in a large number of healthy controls. These disease-associated variants of TAF15 caused formation of cytoplasmic foci when expressed in primary cultures of spinal cord neurons. Very similar to TDP-43 and FUS, TAF15 aggregated in vitro and conferred neurodegeneration in Drosophila, with the ALS-linked variants having amore severe effect than wild type. Immunohistochemistry of postmortem spinal cord tissue revealed mislocalization of TAF15 in motor neurons of patients with ALS. We propose that aggregation-prone RNA-binding proteins might contribute very broadly to ALS pathogenesis and the genes identified in our yeast functional screen, coupled with prion-like domain prediction analysis, now provide a powerful resource to facilitate ALS disease gene discovery.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Hart, Michael P
(author)
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Shorter, James
(author)
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DeJesus-Hernandez, Mariely
(author)
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Erion, Renske
(author)
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Oristano, Rachel
(author)
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Liu, Annie X
(author)
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Ramos, Daniel
(author)
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Jethava, Niti
(author)
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Hosangadi, Divya
(author)
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Epstein, James
(author)
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Chiang, Ashley
(author)
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Diaz, Zamia
(author)
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Nakaya, Tadashi
(author)
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Ibrahim, Fadia
(author)
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Kim, Hyung-Jun
(author)
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Solski, Jennifer A
(author)
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Williams, Kelly L
(author)
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Mojsilovic-Petrovic, Jelena
(author)
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Ingre, CarolineKarolinska Institutet,Umeå universitet,Neurologi(Swepub:umu)caedag96
(author)
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Boylan, Kevin
(author)
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Graff-Radford, Neill R
(author)
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Dickson, Dennis W
(author)
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Clay-Falcone, Dana
(author)
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Elman, Lauren
(author)
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McCluskey, Leo
(author)
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Greene, Robert
(author)
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Kalb, Robert G
(author)
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Lee, Virginia M-Y
(author)
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Trojanowski, John Q
(author)
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Ludolph, Albert
(author)
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Robberecht, Wim
(author)
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Andersen, Peter MUmeå universitet,Neurologi(Swepub:umu)pean0001
(author)
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Nicholson, Garth A
(author)
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Blair, Ian P
(author)
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King, Oliver D
(author)
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Bonini, Nancy M
(author)
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Van Deerlin, Vivianna
(author)
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Rademakers, Rosa
(author)
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Mourelatos, Zissimos
(author)
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Gitler, Aaron D
(author)
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Umeå universitetNeurologi
(creator_code:org_t)
Related titles
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In:Proceedings of the National Academy of Sciences of the United States of America: Proceedings of the National Academy of Sciences108:52, s. 20881-208900027-84241091-6490
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Couthouis, Julie ...
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Hart, Michael P
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Shorter, James
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DeJesus-Hernande ...
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Erion, Renske
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Oristano, Rachel
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Liu, Annie X
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Ramos, Daniel
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Jethava, Niti
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Hosangadi, Divya
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Epstein, James
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Chiang, Ashley
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Diaz, Zamia
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Nakaya, Tadashi
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Ibrahim, Fadia
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Kim, Hyung-Jun
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Solski, Jennifer ...
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Williams, Kelly ...
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Mojsilovic-Petro ...
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Ingre, Caroline
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Boylan, Kevin
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Graff-Radford, N ...
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Dickson, Dennis ...
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Clay-Falcone, Da ...
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Elman, Lauren
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McCluskey, Leo
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Greene, Robert
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Kalb, Robert G
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Lee, Virginia M- ...
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Trojanowski, Joh ...
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Ludolph, Albert
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Robberecht, Wim
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Andersen, Peter ...
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Nicholson, Garth ...
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Blair, Ian P
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King, Oliver D
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Bonini, Nancy M
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Van Deerlin, Viv ...
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Rademakers, Rosa
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Mourelatos, Ziss ...
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Gitler, Aaron D
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
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Proceedings of t ...
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Umeå University
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Karolinska Institutet