Format

Send to

Choose Destination
See comment in PubMed Commons below
Neuron. 2013 Aug 7;79(3):416-38. doi: 10.1016/j.neuron.2013.07.033.

Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis.

Author information

1
Ludwig Institute for Cancer Research, University of California at San Diego, La Jolla, CA 92093-0670, USA.

Abstract

Breakthrough discoveries identifying common genetic causes for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these disorders. They share unexpectedly similar signatures, including dysregulation in common molecular players including TDP-43, FUS/TLS, ubiquilin-2, VCP, and expanded hexanucleotide repeats within the C9ORF72 gene. Dysfunction in RNA processing and protein homeostasis is an emerging theme. We present the case here that these two processes are intimately linked, with disease-initiated perturbation of either leading to further deviation of both protein and RNA homeostasis through a feedforward loop including cell-to-cell prion-like spread that may represent the mechanism for relentless disease progression.

PMID:
23931993
PMCID:
PMC4411085
DOI:
10.1016/j.neuron.2013.07.033
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Support Center