Patrizia Rizzu

The paper investigates how the H1/H1 risk allele at the MAPT locus increases susceptibility to mild chronic oxidative stress in iNeurons and identifies FDA-approved compounds that rescue this vulnerability.

This study identifies Piccolo's role in astrocytic ECM secretion, showing its impact on synapse formation and neuronal network activity in PCH3.

The paper shows that an ATTTC repeat insertion in an Alu element enhances a DAB1 enhancer, leading to neuronal dysfunction in SCA37.

The paper presents a multi-omics dataset for genetic subtypes of frontotemporal dementia to identify molecular mechanisms disrupted in the disease.

This study examines epigenetic age acceleration in FTLD patients using DNA methylation clocks in blood and brain tissues, finding significant acceleration in blood samples of FTD and PSP patients.

This study identifies DNA methylation changes in FTLD subtypes, finding OTUD4 as a key gene with consistent expression dysregulation across subtypes.

The paper presents a multi-layered molecular dataset from iPSC-derived dopaminergic neurons to model Parkinson's disease genetic risk and provides a data browser for accessing these resources.

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

The paper functionally annotates human long non-coding RNAs by systematically knocking down 285 lncRNAs and analyzing molecular phenotypes using CAGE sequencing.

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.