Eleonora Aronica

This paper evaluates combining expression-based surrogate variables and genotype-based principal components in differential expression analysis, finding the combined approach improves replicability and biological recall in ALS datasets.

This study performs phosphoproteomic analysis of TSC brain lesions, finding strong mTORC1 activation and widespread mRNA splicing changes in SEGAs but not tubers.

The paper identifies unique transcriptional profiles of immature neurons in aged human hippocampus across healthy, Alzheimer's disease, and resilient conditions, linking them to homeostasis and cognitive resilience.

The paper identifies RIG-I-mediated innate immune activation in FUS-ALS spinal motor neurons due to mitochondrial dsRNA accumulation, which can be targeted by JAK-STAT inhibition, offering potential biomarker-driven treatment options.

This study investigates TrkB-FL cleavage and TrkB-ICD formation during epileptogenesis in a rat model and human samples, finding a correlation with seizure severity and memory impairment.

The paper uses single-cell Mendelian randomisation to identify cell-type specific genetic effects on brain disease and behaviour, revealing 118 genes with causal associations to 16 brain phenotypes.

The paper uses single-nucleus RNA sequencing to analyze cortical tubers in TSC, finding preserved neuronal subtypes and metabolic reorganization in neurons.

The paper shows SorLA restricts TNFα release from microglia, reducing their anti-tumor response and promoting glioma growth.

The paper maps morpho-electric and computational properties of human hippocampal CA1 pyramidal neurons and identifies three distinct cell types with unique biophysical features.

The paper shows TSPO expression increases in activated microglia in rodent models but not in human neurodegenerative diseases, indicating species-specific differences in TSPO function.

SpliPath identifies pathogenic splice-altering variants in ALS by integrating SpliceAI predictions with transcriptomics data, revealing hidden heritability in rare variant disorders.

This study uses cryo-EM to show that tau filaments in ALS/PDC share the CTE fold, suggesting environmental causes for the disease.

The paper compares TDP-43's transcriptional and splicing effects in muscle and neuronal cells, showing tissue-specific roles in disease.

This study shows that C1q mediates chronic neuron loss and inflammation after brain injury by targeting the corticothalamic circuit in mice.

The paper compares proteomic and transcriptomic profiles of hippocampus and cortex in SUDEP and high-risk SUDEP cases, finding no proteomic differences but 55 differentially expressed genes in hippocampus.

This paper describes a novel Ataxin-3 knock-in mouse model that replicates key neuropathological, behavioral, and transcriptional features of human SCA3 disease.

The paper identifies a recurrent start codon mutation in UGP2 causing a severe epileptic encephalopathy, showing that isoform-specific expression loss of an essential gene can lead to disease.

The paper uses unsupervised machine learning to identify three molecular subtypes in ALS cortex samples, associated with oxidative stress, retrotransposon activation, and glial activation.

This study identifies SorCS2 as a regulator of EAAT3 trafficking that protects neurons from oxidative stress and epilepsy-induced damage.