Antonia Ratti

Pre-clinical evaluation of a gene therapy candidate for SOD1-ALS shows improved survival and signs of inflammation in the CNS of treated mice.

This study evaluates a gene therapy for SOD1-ALS, showing improved survival and CNS inflammation in treated mice with dose-dependent hSOD1 reduction.

Network Analysis of the Cerebrospinal Fluid Proteome Reveals Shared and Unique Differences Between Sporadic and Familial Forms of Amyotrophic Lateral Sclerosis

The paper identifies proteomic differences in cerebrospinal fluid between sporadic and familial ALS subtypes using network analysis and validates biomarkers across neurodegenerative diseases.

PTBP1 mediates Sertoli cell actin cytoskeleton organization by regulating alternative splicing of actin regulators

The paper identifies PTBP1's role in regulating alternative splicing of actin regulators to control Sertoli cell actin cytoskeleton dynamics during spermatogenesis.

NEK1 haploinsufficiency worsens DNA damage but not defective ciliogenesis in C9ORF72 patient-derived iPSC-motoneurons

This study investigates how NEK1 haploinsufficiency affects C9ORF72 pathology in patient-derived iPSC-motoneurons, finding increased DNA damage but no additional ciliogenesis defects.

NEK1 haploinsufficiency impairs ciliogenesis in human iPSC-derived motoneurons and brain organoids

This study shows that NEK1 haploinsufficiency in human iPSC-derived motoneurons and brain organoids impairs ciliogenesis, linking NEK1 mutations to ALS through reduced primary cilium formation.

Altered nuclear envelope homeostasis is a key pathogenic event in C9ORF72-linked ALS/FTD

This study identifies altered nuclear envelope homeostasis as a key pathogenic event in C9ORF72-linked ALS/FTD, showing that restoring NE tensional homeostasis can rescue NPC injury and reduce DNA damage.

Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression

This study uses molecular dynamics and clinical data to show structural and dynamic differences between WTL and MBR SOD1 variants, linking these to distinct ALS clinical outcomes.

Induction Of Chronic Stress Reveals An Interplay Of Stress Granules And TDP-43 Pathological Aggregates In Human ALS Fibroblasts And iPSC-Neurons

This study shows chronic oxidative stress induces stress granules and TDP-43 aggregates in ALS patient cells, linking SG dysfunction to TDP-43 pathology.

Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of Amyotrophic Lateral Sclerosis

This study shows that modulating actin polymerization affects nucleocytoplasmic transport in ALS, with potential therapeutic implications.