| Literature DB >> 21706386 |
Peter I Joyce1, Pietro Fratta, Elizabeth M C Fisher, Abraham Acevedo-Arozena.
Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease with no cure. Breakthroughs in understanding ALS pathogenesis came with the discovery of dominant mutations in the superoxide dismutase 1 gene (SOD1) and other genes, including the gene encoding transactivating response element DNA binding protein-43 (TDP-43). This has led to the creation of animal models to further our understanding of the disease and identify a number of ALS-causing mechanisms, including mitochondrial dysfunction, protein misfolding and aggregation, oxidative damage, neuronal excitotoxicity, non-cell autonomous effects and neuroinflammation, axonal transport defects, neurotrophin depletion, effects from extracellular mutant SOD1, and aberrant RNA processing. Here we summarise the SOD1 and TDP-43 animal models created to date, report on recent findings supporting the potential mechanisms of ALS pathogenesis, and correlate this understanding with current developments in the clinic.Entities:
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Year: 2011 PMID: 21706386 DOI: 10.1007/s00335-011-9339-1
Source DB: PubMed Journal: Mamm Genome ISSN: 0938-8990 Impact factor: 2.957