The identification of disease-causing mutations has proven to be essential for our understanding of the pathogenesis and progression of human disorders. The identification of such genes can lead to new avenues of research and may be even used for diagnostic testing purposes. Novel disease-gene identification leads to the development of cellular and animal models that are invaluable in the characterization of disease-related biological pathways and allow investigation into the potential efficacy of therapeutic strategies. Here, we examine how genes associated with amyotrophic lateral sclerosis have allowed us to identify several pathways affected by mutations which may ultimately lead to therapeutic strategies.
|Title of host publication||Molecular and Cellular Therapies for Motor Neuron Diseases|
|Number of pages||17|
|Publication status||Published - Jan 19 2017|
- Aggregation disease mechanisms
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