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Elsevier, Neurobiology of Aging, 9(34), p. 2235.e11-2235.e13, 2013

DOI: 10.1016/j.neurobiolaging.2013.04.004

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Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS

Journal article published in 2013 by Thomas A. Department of Neuroscience Mayo Clinic Jacksonville FL Ravenscroft, Matt C. Department of Neuroscience Mayo Clinic Jacksonville FL Baker, Nicola J. Department of Neuroscience Mayo Clinic Jacksonville FL Rutherford, Ian R. Department of Pathology and Laboratory Medicine University of British Columbia Vancouver Canada Mackenzie, Manuela Department of Neuropathology University of Tübingen Germany German Center for Neurodegenerative Diseases Neumann, Manuela Claudia Neumann, Keith A. Department of Neurology Mayo Clinic Rochester MN Josephs, Bradley F. Department of Neurology Mayo Clinic Rochester MN Boeve, Ronald Department of Neurology Mayo Clinic Rochester MN Petersen, Glenda M. Halliday ORCID, Jillian Disciplines of Medicine and Pathology Sydney Medical School The University of NSW Australia Kril, John C. Department of Neurology Erasmus University Medical Center Rotterdam The Netherlands and Vumc Alzheimercenter Amsterdam Van Swieten, William W. Department of Neurology University of California San Francisco CA Seeley, Glenda Neuroscience Research Australia Faculty of Medicine UNSW Halliday, Dennis W. Department of Neuroscience Mayo Clinic Jacksonville FL Dickson and other authors.
This paper is available in a repository.
This paper is available in a repository.

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Abstract

The nuclear protein fused in sarcoma (FUS) is found in cytoplasmic inclusions in a subset of patients with the neurodegenerative disorder frontotemporal lobar degeneration (FTLD-FUS). FUS contains a methylated arginine-glycine-glycine domain that is required for transport into the nucleus. Recent findings have shown that this domain is hypomethylated in patients with FTLD-FUS. To determine whether the cause of hypomethylation is the result of mutations in protein N-arginine methyltransferases (PRMTs), we selected 3 candidate genes (PRMT1, PRMT3, and PRMT8) and performed complete sequencing analysis and real-time polymerase chain reaction mRNA expression analysis in 20 FTLD-FUS cases. No mutations or statistically significant changes in expression were observed in our patient samples, suggesting that defects in PRMTs are not the cause of FTLD-FUS.