SwePub
Tyck till om SwePub Sök här!
Sök i LIBRIS databas

  Extended search

WFRF:(Rogaeva E)
 

Search: WFRF:(Rogaeva E) > Genetic variation a...

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

Bonham, LW (author)
University of California, San Francisco
Steele, NZR (author)
Karch, CM (author)
show more...
Broce, I (author)
Geier, EG (author)
LANDQVIST WALDÖ, MARIA (author)
Lund 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
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, I (author)
Ruiz, A (author)
Boada, M (author)
Borroni, B (author)
National Institute on Aging, United States
Padovani, A (author)
Cruchaga, C (author)
Karolinska Institutet
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, Karin (author)
Lund 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
Nilsson, Christer (author)
Lund University,Lunds universitet,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,Clinical Memory Research,Lund University Research Groups
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, I (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, I (author)
Hannequin, D (author)
Golfier, V (author)
Vercelletto, M (author)
Brice, A (author)
Nacmias, B (author)
Sorbin, S (author)
Bagnoli, S (author)
Piaceri, I (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, V (author)
Puca, AA (author)
Franceschi, M (author)
Postiglione, A (author)
Milan, G (author)
Sorrentino, P (author)
Kristiansen, M (author)
Chian, HH (author)
Graff, C (author)
Karolinska Institutet
Pasquier, F (author)
Rollin, A (author)
Deramecourt, V (author)
Lebouvier, T (author)
Kapogiannis, D (author)
Ferrucci, L (author)
Pickering-Brown, S (author)
Singleton, AB (author)
show less...
 (creator_code:org_t)
2019-07-26
2019
English.
In: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9:1, s. 10854-
  • Journal article (peer-reviewed)
Abstract Subject headings
Close  
  • 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

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Publication and Content Type

ref (subject category)
art (subject category)

Find in a library

To the university's database

Find more in SwePub

By the author/editor
Bonham, LW
Steele, NZR
Karch, CM
Broce, I
Geier, EG
LANDQVIST WALDÖ, ...
show more...
Momeni, P
Hardy, J
Miller, ZA
Gorno-Tempini, M ...
Hess, CP
Lewis, P
Miller, BL
Seeley, WW
Manzoni, C
Desikan, RS
Baranzini, SE
Ferraris, R
Yokoyama, JS
Hernandez, DG
Nalls, MA
Rohrer, JD
Ramasamy, A
Kwok, JBJ
Dobson-Stone, C
Schofield, PR
Halliday, GM
Hodges, JR
Piguet, O
Bartley, L
Thompson, E
Haan, E
Hernandez, I
Ruiz, A
Boada, M
Borroni, B
Padovani, A
Cruchaga, C
Cairns, NJ
Benussi, L
Binetti, G
Ghidoni, R
Forloni, G
Albani, D
Galimberti, D
Fenoglio, C
Serpente, M
Scarpini, E
Clarimon, J
Lleo, A
Blesa, R
Waldo, ML
Nilsson, Karin
Nilsson, Christe ...
Mackenzie, IRA
Hsiung, GYR
Mann, DMA
Grafman, J
Morris, CM
Attems, J
Griffiths, TD
McKeith, IG
Thomas, AJ
Pietrini, P
Huey, ED
Wassermann, EM
Baborie, A
Jaros, E
Tierney, MC
Pastor, P
Razquin, C
Ortega-Cubero, S
Alonso, E
Perneczky, R
Diehl-Schmid, J
Alexopoulos, P
Kurz, A
Rainero, I
Rubino, E
Pinessi, L
Rogaeva, E
St George-Hyslop ...
Rossi, G
Tagliavini, F
Giaccone, G
Rowe, JB
Schlachetzki, JC ...
Uphill, J
Collinge, J
Mead, S
Danek, A
Van Deerlin, VM
Grossman, M
Trojanowski, JQ
van der Zee, J
Cruts, M
Van Broeckhoven, ...
Cappa, SF
Leber, I
Hannequin, D
Golfier, V
Vercelletto, M
Brice, A
Nacmias, B
Sorbin, S
Bagnoli, S
Piaceri, I
Nielsen, JE
Hjermind, LE
Riemenschneider, ...
Mayhaus, M
Ibach, B
Gasparoni, G
Pichler, S
Gu, W
Rossor, MN
Fox, NC
Warren, JD
Spillantini, MG
Morriss, HR
Rizzu, P
Heutink, P
Snowden, JS
Rollinson, S
Richardson, A
Gerhard, A
Bruni, AC
Maletta, R
Frangipane, F
Cupidi, C
Bernardi, L
Anfossi, M
Gallo, M
Conidi, ME
Smirne, N
Rademakers, R
Baker, M
Dickson, DW
Graff-Radford, N ...
Petersen, RC
Knopman, D
Josephs, KA
Boeve, BF
Parisi, JE
Karydas, AM
Rosen, H
van Swieten, JC
Dopper, EGP
Seelaar, H
Pijnenburg, YAL
Scheltens, P
Logroscino, G
Capozzo, R
Novelli, V
Puca, AA
Franceschi, M
Postiglione, A
Milan, G
Sorrentino, P
Kristiansen, M
Chian, HH
Graff, C
Pasquier, F
Rollin, A
Deramecourt, V
Lebouvier, T
Kapogiannis, D
Ferrucci, L
Pickering-Brown, ...
Singleton, AB
show less...
About the subject
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Basic Medicine
and Medical Genetics
Articles in the publication
Scientific repor ...
By the university
Karolinska Institutet
Lund University

Search outside SwePub

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view