Manuela Basso

Empowering multiplexed ultra-throughout ribosome profiling with RiboWich

RiboWich improves ribosome profiling by eliminating ribosome purification and enabling high-throughput, low-input translatome analysis.

Targeting Neuromuscular Junction Regeneration is a Therapeutic Strategy in ALS

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

Translation-specific disruption of Col1a1 expression in multiple models of Spinal Muscular Atrophy can be rescued by Risdiplam.

The paper identifies COL1A1 as a translation-specific biomarker of SMA severity and shows it can be rescued by SMN-restoring therapies in multiple models.

Disruption of ribosome dynamics and mRNA homeostasis triggers a cascading imbalance in protein synthesis in models of Amyotrophic Lateral Sclerosis

This study investigates how TDP-43 dysregulation disrupts protein synthesis in ALS models by altering ribosome dynamics and mRNA homeostasis, revealing a conserved mechanism across in vitro and in vivo systems.

Small molecule inhibitors of hnRNPA2B1-RNA interactions reveal a predictable sorting of RNA subsets into extracellular vesicles

This study identifies small molecule inhibitors of hnRNPA2B1-RNA interactions and shows they alter EV-RNA composition and paracrine signaling.

Defective cyclophilin A induces TDP-43 proteinopathy: implications for amyotrophic lateral sclerosis and frontotemporal dementia

This study shows that defective cyclophilin A (PPIA) leads to TDP-43 proteinopathy, contributing to ALS and FTD by disrupting TDP-43 function and causing neurodegeneration.

Polyglutamine-expanded androgen receptor disrupts muscle triad, calcium dynamics and the excitation-contraction coupling gene expression program

This study shows polyglutamine-expanded androgen receptor disrupts muscle function by altering calcium dynamics and excitation-contraction coupling gene expression, which can be reversed by treatment.