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- Bonham, LWUniversity of California, San Francisco (author)
Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
- Article/chapterEnglish2019
Publisher, publication year, extent ...
- 2019-07-26
- Springer Science and Business Media LLC,2019
Numbers
- LIBRIS-ID:oai:prod.swepub.kib.ki.se:141483237
- http://kipublications.ki.se/Default.aspx?queryparsed=id:141483237URI
- https://doi.org/10.1038/s41598-019-46415-1DOI
- https://lup.lub.lu.se/record/9bd3d9b7-b1a1-4338-a80c-2722d4fd63adURI
Supplementary language notes
- Language:English
- Summary in:English
Part of subdatabase
- SwePubSwePub
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Notes
- The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). Previous genetic studies of svPPA are limited by small sample sizes and a paucity of common risk variants. Despite this, svPPA’s relatively homogenous clinicopathologic phenotype makes it an ideal investigative model to examine genetic processes that may drive neurodegenerative disease. In this study, we used GWAS metadata, tissue samples from pathologically confirmed frontotemporal lobar degeneration, and in silico techniques to identify and characterize protein interaction networks associated with svPPA risk. We identified 64 svPPA risk genes that interact at the protein level. The protein pathways represented in this svPPA gene network are critical regulators of RNA metabolism and cell death, such as SMAD proteins and NOTCH1. Many of the genes in this network are involved in TDP-43 metabolism. Contrary to the conventional notion that svPPA is a clinical syndrome with few genetic risk factors, our analyses show that svPPA risk is complex and polygenic in nature. Risk for svPPA is likely driven by multiple common variants in genes interacting with TDP-43, along with cell death,x` working in combination to promote neurodegeneration.
Subject headings and genre
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- Steele, NZR (author)
- Karch, CM (author)
- Broce, I (author)
- Geier, EG (author)
- LANDQVIST WALDÖ, MARIALund University,Lunds universitet,Psykiatri, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Psychiatry (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)med-mlv (author)
- Momeni, P (author)
- Hardy, J (author)
- Miller, ZA (author)
- Gorno-Tempini, ML (author)
- Hess, CP (author)
- Lewis, P (author)
- Miller, BL (author)
- Seeley, WW (author)
- Manzoni, C (author)
- Desikan, RS (author)
- Baranzini, SE (author)
- Ferraris, R (author)
- Yokoyama, JS (author)
- Hernandez, DG (author)
- Nalls, MA (author)
- Rohrer, JD (author)
- Ramasamy, A (author)
- Kwok, JBJ (author)
- Dobson-Stone, C (author)
- Schofield, PR (author)
- Halliday, GM (author)
- Hodges, JR (author)
- Piguet, O (author)
- Bartley, L (author)
- Thompson, E (author)
- Haan, E (author)
- Hernandez, (author)
- Ruiz, A (author)
- Boada, M (author)
- Borroni, BNational Institute on Aging, United States (author)
- Padovani, A (author)
- Cruchaga, CKarolinska Institutet (author)
- Cairns, NJ (author)
- Benussi, L (author)
- Binetti, G (author)
- Ghidoni, R (author)
- Forloni, G (author)
- Albani, D (author)
- Galimberti, D (author)
- Fenoglio, C (author)
- Serpente, M (author)
- Scarpini, E (author)
- Clarimon, J (author)
- Lleo, A (author)
- Blesa, R (author)
- Waldo, ML (author)
- Nilsson, KarinLund University,Lunds universitet,Psykiatri, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Psychiatry (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)med-kan (author)
- Nilsson, ChristerLund University,Lunds universitet,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,Clinical Memory Research,Lund University Research Groups(Swepub:lu)neur-cni (author)
- Mackenzie, IRA (author)
- Hsiung, GYR (author)
- Mann, DMA (author)
- Grafman, J (author)
- Morris, CM (author)
- Attems, J (author)
- Griffiths, TD (author)
- McKeith, IG (author)
- Thomas, AJ (author)
- Pietrini, P (author)
- Huey, ED (author)
- Wassermann, EM (author)
- Baborie, A (author)
- Jaros, E (author)
- Tierney, MC (author)
- Pastor, P (author)
- Razquin, C (author)
- Ortega-Cubero, S (author)
- Alonso, E (author)
- Perneczky, R (author)
- Diehl-Schmid, J (author)
- Alexopoulos, P (author)
- Kurz, A (author)
- Rainero, (author)
- Rubino, E (author)
- Pinessi, L (author)
- Rogaeva, E (author)
- St George-Hyslop, P (author)
- Rossi, G (author)
- Tagliavini, F (author)
- Giaccone, G (author)
- Rowe, JB (author)
- Schlachetzki, JCM (author)
- Uphill, J (author)
- Collinge, J (author)
- Mead, S (author)
- Danek, A (author)
- Van Deerlin, VM (author)
- Grossman, M (author)
- Trojanowski, JQ (author)
- van der Zee, J (author)
- Cruts, M (author)
- Van Broeckhoven, C (author)
- Cappa, SF (author)
- Leber, (author)
- Hannequin, D (author)
- Golfier, (author)
- Vercelletto, M (author)
- Brice, A (author)
- Nacmias, B (author)
- Sorbin, S (author)
- Bagnoli, S (author)
- Piaceri, (author)
- Nielsen, JE (author)
- Hjermind, LE (author)
- Riemenschneider, M (author)
- Mayhaus, M (author)
- Ibach, B (author)
- Gasparoni, G (author)
- Pichler, S (author)
- Gu, W (author)
- Rossor, MN (author)
- Fox, NC (author)
- Warren, JD (author)
- Spillantini, MG (author)
- Morriss, HR (author)
- Rizzu, P (author)
- Heutink, P (author)
- Snowden, JS (author)
- Rollinson, S (author)
- Richardson, A (author)
- Gerhard, A (author)
- Bruni, AC (author)
- Maletta, R (author)
- Frangipane, F (author)
- Cupidi, C (author)
- Bernardi, L (author)
- Anfossi, M (author)
- Gallo, M (author)
- Conidi, ME (author)
- Smirne, N (author)
- Rademakers, R (author)
- Baker, M (author)
- Dickson, DW (author)
- Graff-Radford, NR (author)
- Petersen, RC (author)
- Knopman, D (author)
- Josephs, KA (author)
- Boeve, BF (author)
- Parisi, JE (author)
- Karydas, AM (author)
- Rosen, H (author)
- van Swieten, JC (author)
- Dopper, EGP (author)
- Seelaar, H (author)
- Pijnenburg, YAL (author)
- Scheltens, P (author)
- Logroscino, G (author)
- Capozzo, R (author)
- Novelli, (author)
- Puca, AA (author)
- Franceschi, M (author)
- Postiglione, A (author)
- Milan, G (author)
- Sorrentino, P (author)
- Kristiansen, M (author)
- Chian, HH (author)
- Graff, CKarolinska Institutet (author)
- Pasquier, F (author)
- Rollin, A (author)
- Deramecourt, (author)
- Lebouvier, T (author)
- Kapogiannis, D (author)
- Ferrucci, L (author)
- Pickering-Brown, S (author)
- Singleton, AB (author)
- University of California, San FranciscoPsykiatri, Lund (creator_code:org_t)
Related titles
- In:Scientific reports: Springer Science and Business Media LLC9:1, s. 10854-2045-2322
Internet link
- https://www.nature.com/articles/s41598-019-46415-1.pdf
- https://www.scopus.com/inward/record.uri?eid=2-s2.0-85069717816&doi=10.1038%2fs41598-019-46415-1&partnerID=40&md5=9c44929bf505d5b3276a6af6ac1b0983FULLTEXT
- http://dx.doi.org/10.1038/s41598-019-46415-1FULLTEXT
- http://kipublications.ki.se/Default.aspx?queryparsed=id:141483237
- https://doi.org/10.1038/s41598-019-46415-1
- https://lup.lub.lu.se/record/9bd3d9b7-b1a1-4338-a80c-2722d4fd63ad
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- Bonham, LW
- Steele, NZR
- Karch, CM
- Broce, I
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- Nalls, MA
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- Hodges, JR
- Piguet, O
- Bartley, L
- Thompson, E
- Haan, E
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- Boada, M
- Borroni, B
- Padovani, A
- Cruchaga, C
- Cairns, NJ
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- Binetti, G
- Ghidoni, R
- Forloni, G
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- Fenoglio, C
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- Huey, ED
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- Baborie, A
- Jaros, E
- Tierney, MC
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- Ortega-Cubero, S
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- Perneczky, R
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- Seelaar, H
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- Logroscino, G
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- Sorrentino, P
- Kristiansen, M
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