Laura Ferraiuolo

This study identifies distinct astrocyte states in C9orf72 expansion carriers discordant for ALS, linking epigenetic changes, stress, and functional dysfunction to disease onset.

This study identifies a common mitochondrial dysfunction phenotype in Leigh syndrome and Huntington's disease patient fibroblasts and finds that the AMPK activator A769662 rescues this phenotype in both conditions.

This study compares AAV9-driven motor neuron transduction efficiency using different CNS delivery methods in mice, finding that unilateral ICV delivery provides the highest and most consistent transduction with minimal peripheral viral copies.

This paper uses AI to identify gefitinib as a potential ALS treatment, showing it protects motor neurons and reduces TDP-43 fragments in vitro and in vivo.

This study shows that C9orf72-ALS mutation impairs mitophagy in iNeurons by reducing autophagosome production and ULK1 recruitment to mitochondria.

M102, a dual NRF2/HSF1 activator, slows disease progression in 2 mouse models and exerts neuroprotection in human cellular models of ALS.

This study shows that activating the Keap1/Nrf2 pathway reduces mitochondrial dysfunction and motor deficits in C9orf72 ALS/FTD models and patient-derived neurons.

The paper shows that apoE isoforms modulate Aβ aggregation, clearance, and toxicity in Alzheimer's disease, with implications for therapeutic strategies.

The paper identifies CCDC146 as a modifier of ALS survival through primary cilia dysfunction and shows ASO targeting of CCDC146 rescues ALS phenotypes in human and mouse models.

This study shows that AD astrocytes have reduced mitochondrial and glycolytic function, which can be improved by increasing hexokinase 1 expression.

This paper develops a cell-penetrant peptide that blocks C9ORF72-repeat RNA nuclear export, reducing neurodegeneration in preclinical models of ALS and FTD.

The paper identifies reduced EXOSC2 expression as protective against SARS-CoV-2 infection and clinical COVID-19 by inhibiting viral replication and upregulating antiviral genes.

This study identifies 690 candidate ALS genes using a hierarchical Bayesian model, highlighting genetic convergence on the distal axon and functional significance in motor neurons.

This study shows that astrocytic CXCL1 contributes to Aβ-induced tau mislocalization and synaptotoxicity via CXCR2, suggesting it as a therapeutic target in Alzheimer's disease.

This study shows poly-GA DPRs are taken up by astrocytes via endocytosis, spread to motor neurons, and cause axonal swellings through lysosomal dysfunction.

This study shows that inhibiting SRSF1-dependent nuclear export of C9ORF72-repeat transcripts in ALS models protects neurons and identifies key RNA changes involved in disease.

The paper shows that PRKN mutations impair mitophagy in dopaminergic neurons during a metabolic switch to oxidative phosphorylation.

This study identifies HDAC6 as a novel LRRK2 substrate and shows that LRRK2-mediated phosphorylation of HDAC6 enhances aggresome formation, linking LRRK2 dysfunction to Parkinson's disease pathology.