Aaron Gitler, PhD & James Shorter, PhD
Stanford University & University of Pennsylvania
Genetic and biochemical approaches to define mechanisms of RAN translation in C9orf72-associated ALS
Mutations in the C9orf72 gene are a common cause of ALS. New evidence points to a potential role for tiny peptides that are abnormally expressed from this gene and may contribute to the disease. In this project, the Gitler and Shorter labs will combine yeast experiments and biochemistry to identify the mechanisms by which these short peptides (produced through a mechanism known as Repeat Associated Non-ATG Translation Initiation) might cause disease. We also intend to develop strategies to help combat the formation of such peptides.
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Gladstone Institutes, UCSF
Two recently discovered genes that have been associated with both familial and sporadic forms of ALS encode the related proteins TDP43 and FUS cause neuron death in ALS.
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