Francesca Mattedi

TDP-43 dysfunction induces cryptic circular RNAs in ALS/FTD

This study identifies TDP-43 dysfunction as a cause of cryptic circular RNA formation in ALS/FTD, showing their association with disease-relevant protein loss and potential as biomarkers.

U7 small nuclear RNA splice-switching therapeutics for STMN2 and UNC13A in Amyotrophic Lateral Sclerosis

The paper develops U7 snRNA therapeutics to correct TDP-43-dependent mis-splicing in ALS, restoring gene expression and neuronal function in human iPSC-derived neurons.

Sensitivity to TDP-43 loss and degradation resistance determine cryptic exon biomarker potential

The paper identifies cryptic splicing events (CEs) sensitive to TDP-43 loss and develops a composite score to detect TDP-43 pathology across tissues.

Creation of de novo cryptic splicing for ALS/FTD precision medicine

The paper develops TDP-REG, a system using cryptic splicing to enable precise gene therapy activation in diseased neurons for ALS/FTD.

Age-specific and compartment-dependent changes in mitochondrial homeostasis and cytoplasmic viscosity in mouse peripheral neurons

This study investigates age-related changes in mitochondrial function and cytoplasmic viscosity in mouse peripheral neurons, finding compartment-specific effects on mitochondrial trafficking and homeostasis.

TDP-43 loss induces extensive cryptic polyadenylation in ALS/FTD

The paper identifies novel cryptic polyadenylation events induced by TDP-43 loss in ALS/FTD using bioinformatic methods and shows their potential disease relevance and impact on protein translation.

Yeast NDI1 reconfigures neuronal metabolism and prevents the unfolded protein response in mitochondrial complex I deficiency

The paper shows that yeast NDI1 restores metabolite levels, ER-mitochondria contacts, and rescues behavioral and lifespan defects in Drosophila with neuronal complex I deficiency.

FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation

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

In vivo translatome profiling reveals early defects in ribosome biology underlying SMA pathogenesis

The paper identifies early translational defects in SMA mice, showing reduced translational efficiency and ribosome numbers in motor neurons, which are rescued by SMN restoration.