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Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins.
Abo-Rady M, Kalmbach N, Pal A, Schludi C, Janosch A, Richter T, Freitag P, Bickle M, Kahlert AK, Petri S, Stefanov S, Glass H, Staege S, Just W, Bhatnagar R, Edbauer D, Hermann A, Wegner F, Sterneckert JL. Abo-Rady M, et al. Among authors: edbauer d. Stem Cell Reports. 2020 Mar 10;14(3):390-405. doi: 10.1016/j.stemcr.2020.01.010. Epub 2020 Feb 20. Stem Cell Reports. 2020. PMID: 32084385 Free PMC article.
Cell-to-cell transmission of C9orf72 poly-(Gly-Ala) triggers key features of ALS/FTD.
Khosravi B, LaClair KD, Riemenschneider H, Zhou Q, Frottin F, Mareljic N, Czuppa M, Farny D, Hartmann H, Michaelsen M, Arzberger T, Hartl FU, Hipp MS, Edbauer D. Khosravi B, et al. Among authors: edbauer d. EMBO J. 2020 Apr 15;39(8):e102811. doi: 10.15252/embj.2019102811. Epub 2020 Mar 16. EMBO J. 2020. PMID: 32175624 Free PMC article.
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations.
Mori K, Lammich S, Mackenzie IR, Forné I, Zilow S, Kretzschmar H, Edbauer D, Janssens J, Kleinberger G, Cruts M, Herms J, Neumann M, Van Broeckhoven C, Arzberger T, Haass C. Mori K, et al. Among authors: edbauer d. Acta Neuropathol. 2013 Mar;125(3):413-23. doi: 10.1007/s00401-013-1088-7. Epub 2013 Feb 5. Acta Neuropathol. 2013. PMID: 23381195
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.
Mori K, Arzberger T, Grässer FA, Gijselinck I, May S, Rentzsch K, Weng SM, Schludi MH, van der Zee J, Cruts M, Van Broeckhoven C, Kremmer E, Kretzschmar HA, Haass C, Edbauer D. Mori K, et al. Among authors: edbauer d. Acta Neuropathol. 2013 Dec;126(6):881-93. doi: 10.1007/s00401-013-1189-3. Epub 2013 Oct 17. Acta Neuropathol. 2013. PMID: 24132570
Promoter DNA methylation regulates progranulin expression and is altered in FTLD.
Banzhaf-Strathmann J, Claus R, Mücke O, Rentzsch K, van der Zee J, Engelborghs S, De Deyn PP, Cruts M, van Broeckhoven C, Plass C, Edbauer D. Banzhaf-Strathmann J, et al. Among authors: edbauer d. Acta Neuropathol Commun. 2013 May 13;1:16. doi: 10.1186/2051-5960-1-16. Acta Neuropathol Commun. 2013. PMID: 24252647 Free PMC article.
92 results