Ausgabe 6/2013
Inhalt (14 Artikel)
Promoting a new brain tumor mutation: TERT promoter mutations in CNS tumors
Zachary J. Reitman, Christopher J. Pirozzi, Hai Yan
Inclusion body formation, macroautophagy, and the role of HDAC6 in neurodegeneration
Christiane Richter-Landsberg, Janina Leyk
LRRK2 phosphorylates novel tau epitopes and promotes tauopathy
Rachel M. Bailey, Jason P. Covy, Heather L. Melrose, Linda Rousseau, Ruth Watkinson, Joshua Knight, Sarah Miles, Matthew J. Farrer, Dennis W. Dickson, Benoit I. Giasson, Jada Lewis
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
Tania F. Gendron, Kevin F. Bieniek, Yong-Jie Zhang, Karen Jansen-West, Peter E. A. Ash, Thomas Caulfield, Lillian Daughrity, Judith H. Dunmore, Monica Castanedes-Casey, Jeannie Chew, Danielle M. Cosio, Marka van Blitterswijk, Wing C. Lee, Rosa Rademakers, Kevin B. Boylan, Dennis W. Dickson, Leonard Petrucelli
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
Sarah Mizielinska, Tammaryn Lashley, Frances E. Norona, Emma L. Clayton, Charlotte E. Ridler, Pietro Fratta, Adrian M. Isaacs
Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
Ian R. Mackenzie, Thomas Arzberger, Elisabeth Kremmer, Dirk Troost, Stefan Lorenzl, Kohji Mori, Shih-Ming Weng, Christian Haass, Hans A. Kretzschmar, Dieter Edbauer, Manuela Neumann
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
Kohji Mori, Thomas Arzberger, Friedrich A. Grässer, Ilse Gijselinck, Stephanie May, Kristin Rentzsch, Shih-Ming Weng, Martin H. Schludi, Julie van der Zee, Marc Cruts, Christine Van Broeckhoven, Elisabeth Kremmer, Hans A. Kretzschmar, Christian Haass, Dieter Edbauer
Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood
Veronique V. Belzil, Peter O. Bauer, Mercedes Prudencio, Tania F. Gendron, Caroline T. Stetler, Irene K. Yan, Luc Pregent, Lillian Daughrity, Matthew C. Baker, Rosa Rademakers, Kevin Boylan, Tushar C. Patel, Dennis W. Dickson, Leonard Petrucelli
Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system
Christian Koelsche, Felix Sahm, David Capper, David Reuss, Dominik Sturm, David T. W. Jones, Marcel Kool, Paul A. Northcott, Benedikt Wiestler, Katja Böhmer, Jochen Meyer, Christian Mawrin, Christian Hartmann, Michel Mittelbronn, Michael Platten, Benjamin Brokinkel, Marcel Seiz, Christel Herold-Mende, Andreas Unterberg, Jens Schittenhelm, Michael Weller, Stefan Pfister, Wolfgang Wick, Andrey Korshunov, Andreas von Deimling
TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma
Marc Remke, Vijay Ramaswamy, John Peacock, David J. H. Shih, Christian Koelsche, Paul A. Northcott, Nadia Hill, Florence M. G. Cavalli, Marcel Kool, Xin Wang, Stephen C. Mack, Mark Barszczyk, A. Sorana Morrissy, Xiaochong Wu, Sameer Agnihotri, Betty Luu, David T. W. Jones, Livia Garzia, Adrian M. Dubuc, Nataliya Zhukova, Robert Vanner, Johan M. Kros, Pim J. French, Erwin G. Van Meir, Rajeev Vibhakar, Karel Zitterbart, Jennifer A. Chan, László Bognár, Almos Klekner, Boleslaw Lach, Shin Jung, Ali G. Saad, Linda M. Liau, Steffen Albrecht, Massimo Zollo, Michael K. Cooper, Reid C. Thompson, Oliver O. Delattre, Franck Bourdeaut, François F. Doz, Miklós Garami, Peter Hauser, Carlos G. Carlotti, Timothy E. Van Meter, Luca Massimi, Daniel Fults, Scott L. Pomeroy, Toshiro Kumabe, Young Shin Ra, Jeffrey R. Leonard, Samer K. Elbabaa, Jaume Mora, Joshua B. Rubin, Yoon-Jae Cho, Roger E. McLendon, Darell D. Bigner, Charles G. Eberhart, Maryam Fouladi, Robert J. Wechsler-Reya, Claudia C. Faria, Sidney E. Croul, Annie Huang, Eric Bouffet, Cynthia E. Hawkins, Peter B. Dirks, William A. Weiss, Ulrich Schüller, Ian F. Pollack, Stefan Rutkowski, David Meyronet, Anne Jouvet, Michelle Fèvre-Montange, Nada Jabado, Marta Perek-Polnik, Wieslawa A. Grajkowska, Seung-Ki Kim, James T. Rutka, David Malkin, Uri Tabori, Stefan M. Pfister, Andrey Korshunov, Andreas von Deimling, Michael D. Taylor
TERT promoter mutations in primary and secondary glioblastomas
Naosuke Nonoguchi, Takashi Ohta, Ji-Eun Oh, Young-Ho Kim, Paul Kleihues, Hiroko Ohgaki
TERT promoter mutations rather than methylation are the main mechanism for TERT upregulation in adult gliomas
Hideyuki Arita, Yoshitaka Narita, Hirokazu Takami, Shintaro Fukushima, Yuko Matsushita, Akihiko Yoshida, Yasuji Miyakita, Makoto Ohno, Soichiro Shibui, Koichi Ichimura
Histologically defined central nervous system primitive neuro-ectodermal tumours (CNS-PNETs) display heterogeneous DNA methylation profiles and show relationships to other paediatric brain tumour types
Ed. C. Schwalbe, James T. Hayden, Hazel A. Rogers, Suzanne Miller, Janet C. Lindsey, Rebecca M. Hill, Sarah-Leigh Nicholson, John-Paul Kilday, Martyna Adamowicz-Brice, Lisa Storer, Thomas S. Jacques, Keith Robson, Jim Lowe, Daniel Williamson, Richard G. Grundy, Simon Bailey, Steven C. Clifford