Alessandro Rosa

The paper presents the first telomere-to-telomere diploid reference genome of the human embryonic stem cell line H9, revealing genomic features and ancestry.

This study shows that targeting NMJ regeneration and CXCR4 can improve motor function and survival in ALS models.

This study uses patient-derived iPSCs with a GNAO1 variant to show altered neuronal differentiation and function in cortical neurons.

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 creates 2D and 3D human FXS models using FMRP-KO iPSCs, showing altered gene expression, impaired differentiation, and increased glial proliferation.

The paper uses single cell transcriptomics to identify master regulators of dysfunctional pathways in SOD1 ALS motor neurons, finding SMAD2 activation as a key driver of neurodegeneration.

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.