C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes

Autor: Cristina T Vicente, Jolien Perneel, Sarah Wynants, Bavo Heeman, Marleen Van den Broeck, Matt Baker, Simon Cheung, Júlia Faura, Ian R A Mackenzie, Rosa Rademakers

Publikováno v: Brain

Transmembrane protein 106B (TMEM106B) is a tightly regulated glycoprotein predominantly localized to endosomes and lysosomes. Genetic studies have implicated TMEM106B haplotypes in the development of multiple neurodegenerative diseases with the stron

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1874a839a79f6c1544be41064c9dc172
https://hdl.handle.net/10067/1962010151162165141

Correction to: Accumulation of TMEM106B C‑terminal fragments in neurodegenerative disease and aging

Autor: Jolien Perneel, Manuela Neumann, Bavo Heeman, Simon Cheung, Marleen Van den Broeck, Sarah Wynants, Matt Baker, Cristina T. Vicente, Júlia Faura, Rosa Rademakers, Ian R. A. Mackenzie

Publikováno v: Acta neuropathologica 145, 369–370 (2023). doi:10.1007/s00401-022-02536-y

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad706552da461b64a890b1efd2237133
https://doi.org/10.1007/s00401-022-02536-y

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Autor: Nigel J. Cairns, Merel O. Mol, Gregory D. Jenkins, Leonard Petrucelli, Nilufer Ertekin-Taner, Stuart Pickering-Brown, Carlos Cruchaga, Edward B. Lee, Jonathan D. Glass, John C. van Swieten, Jonathan D. Rohrer, Keith A. Josephs, Patrizia Rizzu, Johannes Prudlo, Edward D. Huey, Cristina T. Vicente, Shulan Tian, Claire Troakes, Ging-Yuek Robin Hsiung, Julie S. Snowden, Lawrence S. Honig, Jean Paul G. Vonsattel, Yan W. Asmann, Matthis Synofzik, Sigrun Roeber, Jeroen van Rooij, Ralph B. Perkerson, Eric M. Reiman, Charles L. White, Ethan G. Geier, Billie J. Matchett, Robert A. Rissman, Julia Keith, David J. Irwin, Manuela Neumann, Dieter Edbauer, M.-Marsel Mesulam, Jochen Herms, Vivianna M. Van Deerlin, Jordan Grafman, Melissa E. Murray, Oscar L. Lopez, Bernardino Ghetti, Rosa Rademakers, Bradley F. Boeve, Ekaterina Rogaeva, Sara Rollinson, Marla Gearing, Geoffrey L. Ahern, Zachary C. Fogarty, Peter Heutink, Yingxue Ren, Javier Simón-Sánchez, David G. Mann, Bryan K. Woodruff, Ryan J. Uitti, Martin R. Farlow, Lea T. Grinberg, Murray Grossman, Julia Kofler, Ian R. A. Mackenzie, Jennifer S. Yokoyama, Lorne Zinman, Matt Baker, John Q. Trojanowski, Zbigniew K. Wszolek, Cyril Pottier, Changiz Geula, Thomas Arzberger, Dennis W. Dickson, Joanna M. Biernacka, William W. Seeley, Caroline Graff, Olivier Piguet, John B.J. Kwok, Joseph E. Parisi, Safa Al-Sarraj, Harro Seelaar, Elizabeth Christopher, Ronald C. Petersen, Linn Öijerstedt, Anna Karydas, Salvatore Spina, Carlo Wilke, Marka van Blitterswijk, Simon Mead, Janine Diehl-Schmid, Bret M. Evers, David S. Knopman, Kevin F. Bieniek, John R. Hodges, Anthony Batzler, Mariely DeJesus-Hernandez, Elizabeth Finger, Thomas G. Beach, EunRan Suh, Maria Carmela Tartaglia, Sandra Weintraub, Shannon K. McDonnell, Bruce L. Miller, Glenda M. Halliday, Andy King, Eileen H. Bigio, Neill R. Graff-Radford, Richard J. Caselli

Publikováno v: Acta Neuropathologica, 137(6), 879-899. Springer-Verlag
Acta Neuropathol
Acta neuropathologica 137(6), 879-899 (2019). doi:10.1007/s00401-019-01962-9
Acta neuropathologica

Frontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) represents the most common pathological subtype of FTLD. We established the international FTLD-TDP whole-genome sequencing consortium to thoroughl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1500c504ddc41a67b8cb5e111941d5d5
https://pure.eur.nl/en/publications/ec4efc7a-1a6b-4346-af9a-7b821d069c4d