J. Andrew Berglund

This study tracks splicing index changes in DM1 patients over three years, finding worsening SI scores with variability among participants and associations with clinical phenotypes and baseline severity.

This study shows that inosine misincorporation into mRNA activates the integrated stress response and an innate immune gene expression signature, linking ITPase deficiency to cellular stress.

Quercetin reduces toxic RNA levels and rescues MBNL-dependent mis-splicing in DM1 and DM2 models.

This study shows that metal ions and temperature affect DNA nanostructure self-assembly, with divalent ions enabling assembly at lower temperatures and no adverse effects on cell viability.

The paper identifies small molecules that reduce expanded CAG RNA abundance in SCA patient and mouse models, showing repeat-selective effects across multiple SCAs.

This study compares transcriptomic changes in ZIKV-infected cell cultures with patient RNA-seq data, finding similarities in transcriptional profiles but limited overlap in alternative splicing.

This study shows that CCG*CGG interruptions in SCA8 repeat expansions increase RAN protein levels and toxicity, contributing to higher disease penetrance.

This study generates zebrafish models of myotonic dystrophy by mutating mbnl genes, revealing physical and molecular phenotypes similar to the human disease.

This study shows longer G4C2 repeats in C9orf72 transgenic mice lead to earlier disease onset, higher penetrance, and more RNA foci, with alternative splicing changes as early biomarkers.