Publication
Title
Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS
Author
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. (C) 2013 Elsevier Inc. All rights reserved.
Language
English
Source (journal)
Neurobiology of aging. - Fayetteville, N.Y.
Publication
Fayetteville, N.Y. : 2013
ISSN
0197-4580
DOI
10.1016/J.NEUROBIOLAGING.2013.04.004
Volume/pages
34 :9 (2013) , 3 p.
Article Reference
UNSP 2235.e11
ISI
000320997300023
Medium
E-only publicatie
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
External links
Web of Science
Record
Identifier
Creation 25.09.2019
Last edited 22.12.2024
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