Tiziana Santini

Neuronal late endosomes serve as selective RNA hubs disrupted by ALS-linked FUS mutation

The paper identifies late endosomes as selective RNA carriers in motor neurons and shows that ALS-linked FUS mutations disrupt this process.

nHOTAIRM1 scaffolds ANXA11-dependent assemblies to drive axonal mRNA localization in human motor neurons

This study identifies nHOTAIRM1's role in axonal mRNA localization by scaffolding ANXA11-dependent transport assemblies in human motor neurons.

LINC00205 acts as a multivalent scaffold promoting FUSP525L recruitment in Amyotrophic Lateral Sclerosis stress granules

This study identifies LINC00205 as a critical lncRNA that promotes the formation of pathological stress granules in ALS by acting as a scaffold to recruit specific mRNAs and proteins.

Mutant FUS perturbs m6A regulation by repressing ALKBH5, while restoring m6A levels alleviates ALS pathology in vivo

This study shows that mutant FUS reduces ALKBH5 expression, increasing m6A levels, and that restoring m6A alleviates ALS pathology in Drosophila models.

DNA damage response defects induced by the formation of TDP-43 and mutant FUS cytoplasmic inclusions and their pharmacological rescue.

This study shows that TDP-43 and FUS cytoplasmic inclusions impair DNA damage response and repair, and that pharmacological stimulation of DDR can rescue these defects in ALS models.

Long noncoding RNA HSCHARME is altered in human cardiomyopathies and promotes stem cell-derived cardiomyocyte differentiation by splicing regulation.

This study identifies HSCHARME, a lncRNA altered in cardiomyopathies, which promotes cardiomyocyte differentiation through splicing regulation.

ALS-associated FUS mutation reshapes the RNA and protein composition of Stress Granules.

This study examines how ALS-associated FUS mutations alter the RNA and protein composition of Stress Granules in neural cells, revealing molecular changes linked to neurodegeneration.

M6A reduction relieves FUS-associated ALS granules

The paper shows that reducing m6A content via METTL3 knock-down decreases FUS-associated ALS granules in cell models and patient-derived fibroblasts.

The long noncoding RNA Charme supervises cardiomyocyte maturation by controlling cell differentiation programs in the developing heart

This study identifies pCharme, a lncRNA that regulates cardiomyocyte maturation by forming nuclear condensates and controlling cardiac development in mice.