CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

Autor: Marc Bruyland, Julie van der Zee, Bart Dermaut, Christine Van Broeckhoven, Patrick Santens, Peter Paul De Deyn, Elizabeth M. C. Fisher, Adrian M. Isaacs, Sebastiaan Engelborghs, Rik Vandenberghe, Karin Peeters, Hazel Urwin, Tim De Pooter, John Collinge

Publikováno v: HUMAN MOLECULAR GENETICS
Human molecular genetics

The charged multivesicular body protein 2B gene (CHMP2B) was recently associated with frontotemporal lobar degeneration (FTLD) linked to chromosome 3 in a Danish FTLD family (FTD-3). In this family, a mutation in the acceptor splice site of exon 6 pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0c29112c9264b74baed86270e6baf78
https://doi.org/10.1093/hmg/ddm309

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

Autor: Emma L, Scotter, Caroline, Vance, Agnes L, Nishimura, Youn-Bok, Lee, Han-Jou, Chen, Hazel, Urwin, Valentina, Sardone, Jacqueline C, Mitchell, Boris, Rogelj, David C, Rubinsztein, Christopher E, Shaw

Publikováno v: Journal of Cell Science

TAR DNA-binding protein (TDP-43, also known as TARDBP) is the major pathological protein in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Large TDP-43 aggregates that are decorated with degradation adaptor proteins are seen i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::aae8f84b2b0883706e8c9ba6a7527e54
https://pubmed.ncbi.nlm.nih.gov/24424030

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

Autor: Stuart Pickering-Brown, William W. Seeley, Neill R. Graff-Radford, Jonathan D. Rohrer, Keith A. Josephs, John Collinge, David G. Munoz, Adrian M. Isaacs, Christine Van Broeckhoven, Harro Seelaar, Vivianna M. Van Deerlin, Ronald C. Petersen, Samir Kumar-Singh, John C. van Swieten, Simon Mead, Jeremy M Brown, Hazel Urwin, Han Xiang Deng, Joseph E. Parisi, Dennis W. Dickson, Astrid Authier, Peter Johannsen, Elizabeth M. C. Fisher, Charles L. White, David M. A. Mann, Ida E. Holm, Sebastiaan Engelborghs, Janice L. Holton, Ian R. A. Mackenzie, Shabnam Ghazi-Noori, Jørgen E. Nielsen, Martin N. Rossor, Gary Adamson, Bruce L. Miller, Manuela Neumann, Kimmo J. Hatanpaa, Jillian J. Kril, Tamas Revesz, Felix Geser, Rosa Rademakers, Julie van der Zee, Glenda M. Halliday, Eileen H. Bigio, John Q. Trojanowski, Myron F. Weiner, Peter Paul De Deyn, Valerie Doodeman

Publikováno v: Urwin, H, Josephs, K A, Rohrer, J D, Mackenzie, I R, Neumann, M, Authier, A, Seelaar, H, van Swieten, J C, Brown, J M, Johannsen, P, Nielsen, J E, Holm, I E, Dickson, D W, Rademakers, R, Graff-Radford, N R, Parisi, J E, Petersen, R C, Hatanpaa, K J, White, C L, Weiner, M F, Geser, F, Van Deerlin, V M, Trojanowski, J Q, Miller, B L, Seeley, W W, van der Zee, J, Kumar-Singh, S, Engelborghs, S, de Deyn, P P, Van Broeckhoven, C, Bigio, E H, Deng, H X, Halliday, G M, Kril, J J, Munoz, D G, Mann, D M, Pickering-Brown, S M, Doodeman, V D, Adamson, G, Ghazi-Noori, S, Fisher, E M C, Holton, J L, Revesz, T, Rossor, M N, Collinge, J, Mead, S & Isaacs, A M 2010, ' FUS pathology defines the majority of tau-and TDP-43-negative frontotemporal lobar degeneration ', Acta Neuropathologica, vol. 120, no. 1, pp. 33-41 . https://doi.org/10.1007/s00401-010-0698-6
Acta Neuropathologica, 120(1), 33-41. Springer Verlag
Acta Neuropathologica, 120(1), 33-41. Springer-Verlag
Acta neuropathologica
Acta Neuropathologica

Through an international consortium, we have collected 37 tau- and TAR DNA-binding protein 43 (TDP-43)-negative frontotemporal lobar degeneration (FTLD) cases, and present here the first comprehensive analysis of these cases in terms of neuropatholog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58c545424334d583222f2b1385ef39ff
https://research.vumc.nl/ws/files/760631/261890.pdf

The role of CHMP2B in frontotemporal dementia.

Autor: Hazel Urwin, Shabnam Ghazi-noori, John Collinge, Adrian Isaacs

Publikováno v: Biochemical Society Transactions; 2009, Vol. 37 Issue 1, p208-212, 5p