Publication:
Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS
Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS
| dc.contributor.author | Ravenscroft, Thomas A | en_US |
| dc.contributor.author | Baker, Matt C | en_US |
| dc.contributor.author | Rutherford, Nicola J | en_US |
| dc.contributor.author | Neumann, Manuela | en_US |
| dc.contributor.author | MacKenzie, Ian R | en_US |
| dc.contributor.author | Josephs, Keith A | en_US |
| dc.contributor.author | Boeve, Bradley F | en_US |
| dc.contributor.author | Petersen, Ronald | en_US |
| dc.contributor.author | Halliday, Glenda | en_US |
| dc.contributor.author | Kril, Jillian | en_US |
| dc.contributor.author | van Swieten, John C | en_US |
| dc.contributor.author | Seeley, William W | en_US |
| dc.contributor.author | Dickson, Dennis W | en_US |
| dc.contributor.author | Rademakers, Rosa | en_US |
| dc.date.accessioned | 2021-11-25T12:29:20Z | |
| dc.date.available | 2021-11-25T12:29:20Z | |
| dc.date.issued | 2013 | en_US |
| dc.description.abstract | 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 which is required for transport into the nucleus. Recent findings have shown that this domain is hypomethylated in patients with FTLD-FUS. To determine if 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 PCR 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. | en_US |
| dc.identifier.issn | 0197-4580 | en_US |
| dc.identifier.uri | http://hdl.handle.net/1959.4/53612 | |
| dc.language | English | |
| dc.language.iso | EN | en_US |
| dc.rights | CC BY-NC-ND 3.0 | en_US |
| dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/3.0/au/ | en_US |
| dc.source | Legacy MARC | en_US |
| dc.subject.other | mutations in protein N-arginine methyltransferases (PRMTs) | en_US |
| dc.subject.other | FUS | en_US |
| dc.subject.other | frontotemporal lobar degeneration | en_US |
| dc.title | Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS | en_US |
| dc.type | Journal Article | en |
| dcterms.accessRights | open access | |
| dspace.entity.type | Publication | en_US |
| unsw.accessRights.uri | https://purl.org/coar/access_right/c_abf2 | |
| unsw.description.publisherStatement | NOTICE: this is the author’s version of a work that was accepted for publication in Neurobiology of Aging. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in Neurobiology of Aging, Vol. 34, Issue 9 (2013) DOI 10.1016/j.neurobiolaging.2013.04.004 | en_US |
| unsw.identifier.doiPublisher | http://dx.doi.org/10.1016/j.neurobiolaging.2013.04.004 | en_US |
| unsw.relation.faculty | Medicine & Health | |
| unsw.relation.ispartofissue | 9 | en_US |
| unsw.relation.ispartofjournal | Neurobiology of Aging | en_US |
| unsw.relation.ispartofpagefrompageto | 2235.e11-2235.e13 | en_US |
| unsw.relation.ispartofvolume | 34 | en_US |
| unsw.relation.originalPublicationAffiliation | Ravenscroft, Thomas A, Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA | en_US |
| unsw.relation.originalPublicationAffiliation | Baker, Matt C, Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA | en_US |
| unsw.relation.originalPublicationAffiliation | Rutherford, Nicola J, Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA | en_US |
| unsw.relation.originalPublicationAffiliation | Neumann, Manuela, Department of Neuropathology, University of Tübingen, Tübingen, Germany, German Center for Neurodegenerative Diseases, Tübingen, Germany | en_US |
| unsw.relation.originalPublicationAffiliation | MacKenzie, Ian R, Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada | en_US |
| unsw.relation.originalPublicationAffiliation | Josephs, Keith A, Department of Neurology, Mayo Clinic, Rochester, MN, USA | en_US |
| unsw.relation.originalPublicationAffiliation | Boeve, Bradley F, Department of Neurology, Mayo Clinic, Rochester, MN, USA | en_US |
| unsw.relation.originalPublicationAffiliation | Petersen, Ronald, Department of Neurology, Mayo Clinic, Rochester, MN, USA | en_US |
| unsw.relation.originalPublicationAffiliation | Halliday, Glenda, Neuroscience Research Australia, Faculty of Medicine, UNSW | en_US |
| unsw.relation.originalPublicationAffiliation | Kril, Jillian, Disciplines of Medicine and Pathology, Sydney Medical School, The University of Sydney, NSW, Australia | en_US |
| unsw.relation.originalPublicationAffiliation | van Swieten, John C, Department of Neurology, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands, and Vumc Alzheimercenter, Amsterdam | en_US |
| unsw.relation.originalPublicationAffiliation | Seeley, William W, Department of Neurology, University of California, San Francisco, CA, USA | en_US |
| unsw.relation.originalPublicationAffiliation | Dickson, Dennis W, Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA | en_US |
| unsw.relation.originalPublicationAffiliation | Rademakers, Rosa, Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA | en_US |
| unsw.relation.school | Neuroscience Research Australia | * |
| unsw.subject.fieldofresearchcode | 110903 Central Nervous System | en_US |
Files
Original bundle
1 - 1 of 1