Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration.
review · Level V
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- Record sourced from PubMed, PMID 22127299.
- Also identified by DOI 10.1038/nrn3121 and PMC identifier 3285250.
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Abstract
RNA-binding proteins, and in particular TAR DNA-binding protein 43 (TDP43), are central to the pathogenesis of motor neuron diseases and related neurodegenerative disorders. Studies on human tissue have implicated several possible mechanisms of disease and experimental studies are now attempting to determine whether TDP43-mediated neurodegeneration results from a gain or a loss of function of the protein. In addition, the distinct possibility of pleotropic or combined effects - in which gains of toxic properties and losses of normal TDP43 functions act together - needs to be considered.
Medical subject headings
- DNA-Binding Proteins
- Genetic Predisposition to Disease
- Neurodegenerative Diseases