Maria Giovanna Garone

FLAMESv2 is a flexible R/Bioconductor package for analyzing long-read single-cell RNA-seq data, demonstrating field-leading performance in isoform analysis and cell-type identification.

This study shows that HuD overexpression impairs neuromuscular junctions and induces apoptosis in ALS models, while its knockdown rescues these defects.

The paper uses digital color-coded molecular barcoding to show that FUS mutations disrupt FMRP binding, altering gene expression in ALS motor neurons.

This study shows that FUS-ALS mutants form cytoplasmic condensates that alter FMRP phase separation, leading to translation inhibition in motor neurons.

This study shows that ALS-FUS mutations disrupt HuD/ELAVL4 and FMRP activities, leading to axon phenotypes in motoneurons through altered transcript stability.

This study identifies how ALS-causative FUS mutations disrupt RNA processing and autoregulation, with implications for broader ALS genetic interactions.