Summary
PROJECT SUMMARY Huntington’s Disease (HD) is caused by expanded CAG repeats in exon 1 of the Huntingtin (HTT) gene, resulting in transcription of mutant HTT mRNA and translation of mutant protein, both of which form nuclear aggregates in neurons. The mechanisms linking expanded CAG repeats to molecular features and outcomes of HD – including what contributes to HTT aggregation – is unclear. With the clinical failure of therapies that lower mutant HTT protein, it is crucial to better understand HD mechanisms to identify additional therapeutic targets for HD. The presence of an alternatively spl
