Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1

Autor: Axel Weber, Sigrid C. Schwarz, Jörg Tost, Dietrich Trümbach, Pia Winter, Florence Busato, Pawel Tacik, Anita C. Windhorst, Maud Fagny, Thomas Arzberger, Catriona McLean, John C. van Swieten, Johannes Schwarz, Daniela Vogt Weisenhorn, Wolfgang Wurst, Till Adhikary, Dennis W. Dickson, Günter U. Höglinger, Ulrich Müller

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)

Progressive supranuclear palsy (PSP) is a neurodegenerative disease characterized by aggregation of Tau, encoded by MAPT. Here, the authors perform an EWAS for PSP in prefrontal lobe tissue and find hypermethylation of DLX1 and its antisense transcri

Externí odkaz: https://doaj.org/article/ec0d1bbe28a5442e9f538934be3dd2f3

Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1

Autor: Florence Busato, Catriona McLean, Johannes Schwarz, John C. van Swieten, Wolfgang Wurst, Sigrid C. Schwarz, Dennis W. Dickson, Jörg Tost, Axel Weber, Daniela M. Vogt Weisenhorn, Günter U. Höglinger, Pia Winter, Till Adhikary, Maud Fagny, Anita Windhorst, Ulrich Müller, Pawel Tacik, Thomas Arzberger, Dietrich Trümbach

Publikováno v: Nature Communications
Nature Communications, Nature Publishing Group, 2018, 9, pp.2929. ⟨10.1038/s41467-018-05325-y⟩
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Nature Communications, 9:2929. Nature Publishing Group
Nature Communications 9(1), 2929 (2018). doi:10.1038/s41467-018-05325-y
Nature Communications, 2018, 9, pp.2929. ⟨10.1038/s41467-018-05325-y⟩
Nat. Commun. 9:2929 (2018)

Genetic, epigenetic, and environmental factors contribute to the multifactorial disorder progressive supranuclear palsy (PSP). Here, we study epigenetic changes by genome-wide analysis of DNA from postmortem tissue of forebrains of patients and contr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2dd37feab0faa9c94b3807c1d9766df
https://hal-cea.archives-ouvertes.fr/cea-01877684

Identification of common variants influencing risk of the tauopathy Progressive Supranuclear Palsy

Autor: Marla Gearing, Jean Paul G. Vonsattel, Anna Karydas, Manuela Apfelbacher, Herbert Budka, Bernie Devlin, Alessandro Padovani, Wallace W. Tourtellotte, Andrew J. Lees, Karin Srulijes, Li-San Wang, Klaus Seppi, Gianni Pezzoli, Yvette Bordelon, Claudia Trenkwalder, Ryan J. Uitti, Peter Paul De Deyn, Nicole A. Finch, Roger L. Albin, Ranjan Duara, Gerard D. Schellenberg, Alberto Rábano, Kelly E. Lyons, Rosa Rademakers, Douglas Galasko, Giorgio Sacilotto, Dennis W. Dickson, Günter U. Höglinger, Silvana Tesei, John Hardy, Carlo Colosimo, Eliezer Masliah, Pia Winter, Joseph Jankovic, William W. Seeley, Claudio Mariani, David E. Riley, Matthew J. Farrer, Angelo Antonini, Jens Carsten Möller, Alex Rajput, Hans A. Kretzschmar, Nenad Bogdanovic, Nadine M. Melhem, Ulrich Müller, Steven E. Arnold, Wolfgang H. Oertel, Jorge L. Juncos, Rachel G. Gross, Daniela Berg, Rajesh Pahwa, Deborah A. Hall, Alexandra Durr, Chris Zarow, Lili-Naz Hazrati, Virginia M.-Y. Lee, Justo Garcãa De Yebenes, Donatella Ottaviani, John C. van Swieten, Tamas Revesz, John Q. Trojanowski, Zbigniew K. Wszolek, Sigrun Roeber, Werner Poewe, Matthias Höllerhage, Neill R. Graff-Radford, Laura B. Cantwell, Elena Alonso, Irene Litvan, Claire Troakes, Patrick M. A. Sleiman, Peter St George-Hyslop, Isabelle Leber, Lawrence I. Golbe, Chang En Yu, Allissa Dillman, Anna Zecchinelli, Stephen G. Reich, Stefano Goldwurm, Salvatore Spina, Eduardo Tolosa, Vivianna M. Van Deerlin, Charles L. White, Agnita J.W. Boon, Andrew B. Singleton, Huw R. Morris, Mi Ryung Han, Dena G. Hernandez, Carles Gaig, Matthew P. Frosch, Sebastiaan Engelborghs, Juan C. Troncoso, Roberto Cilia, Catriona McLean, Thomas Gasser, Robyn Flook, Barbara Borroni, Rohan de Silva, Murray Grossman, Martin N. Rossor, Bruce L. Miller, Sean S. O'Sullivan, Hakon Hakonarson, Walter Maetzler, Thomas D. Bird, David G. Standaert, Gesine Respondek, Marcel P. van der Brug, Sherry Beecher, Howard I. Hurtig, Gregor K. Wenning, J. Raphael Gibbs, Alexis Brice, Stuart Pickering-Brown, Jonathan D. Rohrer, Christopher Morris, Jana Vandrovcova, Giovanni Fabbrini, Jesús Avila, Owen A. Ross, Margherita Canesi, Lambertus Klei, Andrew P. Lieberman, Bernardino Ghetti, Laura Silveira-Moriyama, Peter Heutink, Pau Pastor, Nicoletta Meucci, Evan T. Geller, Luke A. Massey, Wang Zheng Chiu, Laura Donker Kaat, Maria Stamelou, Brit Mollenhauer, Mark R. Cookson, Thomas G. Beach

Publikováno v: Nature genetics
Nature genetics, vol 43, iss 7
Digital.CSIC. Repositorio Institucional del CSIC
instname
Hoglinger, G U, Melhem, N M, Dickson, D W, Sleiman, P M A, Wang, L S, Klei, L, Rademakers, R, de Silva, R, Litvan, I, Riley, D E, van Swieten, J C, Heutink, P, Wszolek, Z K, Uitti, R J, Vandrovcova, J, Hurtig, H I, Gross, R G, Maetzler, W, Goldwurm, S, Tolosa, E, Borroni, B, Pastor, P, Cantwell, L B, Han, M R, Dillman, A, van der Brug, M P, Gibbs, J R, Cookson, M R, Hernandez, D G, Singleton, A B, Farrer, M J, Yu, C E, Golbe, L I, Revesz, T, Hardy, J, Lees, A J, Devlin, B, Hakonarson, H, Muller, U & Schellenberg, G D 2011, ' Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy ', Nature Genetics, vol. 43, no. 7, pp. 699-705 . https://doi.org/10.1038/ng.859
Nature Genetics, 43(7), 699-705. Nature Publishing Group
Nature Genetics, 43(7), 699-U125. Nature Publishing Group
Nature genetics 43(7), 699-705 (2011). doi:10.1038/ng.859

Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common being Alzheimer’s disease. Environmental causes of tauopathies include

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30acf23f381f7db94eb44a1257f68342
http://europepmc.org/articles/PMC3125476

Long-term consequences of neonatal encephalopathy in the hypothermia era: protocol for a follow-up cohort study at 9 years of age

Autor: Thuy Mai Luu, Pia Wintermark, Guillaume Gilbert, Marie Brossard-Racine, Emmanouille Rampakakis, Christine Lucas Tardif, Angela White, Anne Gallagher, Elana Pinchefsky, Tina Montreuil, Marie-Noelle Simard

Publikováno v: BMJ Open, Vol 13, Iss 4 (2023)

Introduction Therapeutic hypothermia (TH) became the standard of care treatment for neonates with moderate and severe neonatal encephalopathy (NE) in most industrialized countries about 10 years ago. Although TH is effective in reducing mortality and

Externí odkaz: https://doaj.org/article/16243aefc01e4e9fbde2fde22324fa0c

Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer's disease

Autor: Julia A. Kress, Thomas Arzberger, Adrian Danek, Ulrich Müller, Dieter Edbauer, Frank Tüttelmann, Pia Winter, Hans A. Kretzschmar, Felix Müller-Sarnowski, Sigrun Roeber, Christoph Schindler, Tanja Kuhlmann

Publikováno v: Journal of neural transmission 122(12), 1715-1719 (2015). doi:10.1007/s00702-015-1450-0

Presenilin 1 (PSEN1) mutations are the major cause of autosomal dominant Alzheimer's disease (ADAD). Here we report three novel PSEN1 mutations: Ile238_Lys239insIle, Ala246Pro and Ala164Val from patients who manifested in their twenties, forties and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e01ac1360589a48ca6631f98d647dc6a