Marla L. Weetall

rAAV-Delivered Bicistronic Artificial microRNAs for Allele-Specific Silencing Improve Motor and Molecular Outcomes in Spinocerebellar Ataxia Type 3

This paper develops and tests rAAV-delivered bicistronic artificial microRNAs to selectively silence mutant ATXN3 in SCA3 mouse models, showing improved motor function and reduced mutant protein aggregates.

MAPT Splicing Modulators as a Therapeutic Strategy for Tauopathies

Discovery of SMCs that correct MAPT splicing, reduce 4R tau, and rescue pathology in patient-derived neuronal and in vivo models of 4R tauopathies.

Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators

Development of a novel oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.

This paper develops an oral treatment, PTC258, that restores ELP1 splicing and improves symptoms in a mouse model of familial dysautonomia.