TY  - JOUR
SP  - 499 
EP  -  503
A1  - Levine, TP
A1  - Daniels, RD
A1  - Gatta, AT
A1  - Wong, LH
A1  - Hayes, MJ
SN  - 1460-2059
N2  - Fronto-temporal dementia (FTD) and amyotrophic lateral sclerosis (ALS, also called motor neuron disease, MND) are severe neurodegenerative diseases that show considerable overlap at the clinical and cellular level. The most common single mutation in families with FTD or ALS has recently been mapped to a non-coding repeat expansion in the uncharacterized gene C9ORF72. Although a plausible mechanism for disease is that aberrant C9ORF72 mRNA poisons splicing, it is important to determine the cellular function of C9ORF72, about which nothing is known.
AV  - public
IS  - 4
TI  - The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
N1  - This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. PMCID: PMC3570213
ID  - discovery1384366
Y1  - 2013/02/15/
UR  - http://dx.doi.org/10.1093/bioinformatics/bts725
JF  - Bioinformatics
VL  - 29
ER  -