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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. Acta Neuropathol. 2013 Mar;125(3):413-23. doi: 10.1007/s00401-013-1088-7. Epub 2013 Feb 5. Acta Neuropathol. 2013. PMID: 23381195
Distinct pathological subtypes of FTLD-FUS.
Mackenzie IR, Munoz DG, Kusaka H, Yokota O, Ishihara K, Roeber S, Kretzschmar HA, Cairns NJ, Neumann M. Mackenzie IR, et al. Among authors: kretzschmar ha. Acta Neuropathol. 2011 Feb;121(2):207-18. doi: 10.1007/s00401-010-0764-0. Epub 2010 Oct 30. Acta Neuropathol. 2011. PMID: 21052700
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: kretzschmar ha. Acta Neuropathol. 2013 Dec;126(6):881-93. doi: 10.1007/s00401-013-1189-3. Epub 2013 Oct 17. Acta Neuropathol. 2013. PMID: 24132570
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.
Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, Kwong LK, Forman MS, Ravits J, Stewart H, Eisen A, McClusky L, Kretzschmar HA, Monoranu CM, Highley JR, Kirby J, Siddique T, Shaw PJ, Lee VM, Trojanowski JQ. Mackenzie IR, et al. Among authors: kretzschmar ha. Ann Neurol. 2007 May;61(5):427-34. doi: 10.1002/ana.21147. Ann Neurol. 2007. PMID: 17469116
Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations.
Neumann M, Valori CF, Ansorge O, Kretzschmar HA, Munoz DG, Kusaka H, Yokota O, Ishihara K, Ang LC, Bilbao JM, Mackenzie IR. Neumann M, et al. Among authors: kretzschmar ha. Acta Neuropathol. 2012 Nov;124(5):705-16. doi: 10.1007/s00401-012-1020-6. Epub 2012 Jul 28. Acta Neuropathol. 2012. PMID: 22842875
342 results