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)
|
|
|
|
| |
|