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Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition.
Mori K, Nihei Y, Arzberger T, Zhou Q, Mackenzie IR, Hermann A, Hanisch F; German Consortium for Frontotemporal Lobar Degeneration; Bavarian Brain Banking Alliance; Kamp F, Nuscher B, Orozco D, Edbauer D, Haass C. Mori K, et al. Among authors: mackenzie ir. EMBO Rep. 2016 Sep;17(9):1314-25. doi: 10.15252/embr.201541724. Epub 2016 Jul 26. EMBO Rep. 2016. PMID: 27461252 Free PMC article.
Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p.
Stewart H, Rutherford NJ, Briemberg H, Krieger C, Cashman N, Fabros M, Baker M, Fok A, DeJesus-Hernandez M, Eisen A, Rademakers R, Mackenzie IR. Stewart H, et al. Among authors: mackenzie ir. Acta Neuropathol. 2012 Mar;123(3):409-17. doi: 10.1007/s00401-011-0937-5. Epub 2012 Jan 7. Acta Neuropathol. 2012. PMID: 22228244 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: mackenzie ir. Acta Neuropathol. 2013 Mar;125(3):413-23. doi: 10.1007/s00401-013-1088-7. Epub 2013 Feb 5. Acta Neuropathol. 2013. PMID: 23381195
286 results