Hélène Plun‐Favreau

Glucose concentration of neuronal media formulations influences PINK1-dependent mitophagy in human iNeurons

This study shows that glucose levels in neuronal culture media affect PINK1-dependent mitophagy in human iNeurons, with BrainPhys medium reducing mitophagy compared to N2B27.

The Structured RNA-binding Domains and Condensation Capacity of FUS Shape its RNA-binding Landscape and Function.

This study shows how FUS's RNA-binding and condensation properties shape its function in nuclear organization and DNA damage response through distinct and synergistic mechanisms.

The SNCA A53T mutation sensitizes human neurons and microglia to ferroptosis

This study shows that the SNCA A53T mutation increases vulnerability to ferroptosis in neurons and microglia, suggesting 15-LO inhibition as a potential therapeutic target for Parkinson's disease.

TDP-43 loss of function drives aberrant splicing in Parkinson's disease

The paper identifies splicing dysregulation in Parkinson's disease linked to TDP-43 loss of function and shows its association with genetic mutations and cellular models.

A CRISPR-CAS9 high throughput machine-learning platform for modulation of genes involved in Parkinson's disease-associated PINK1-mitophagy in iPSC-derived dopaminergic neurons

The paper develops a CRISPR-CAS9 platform with machine learning to study PINK1-mitophagy in Parkinson's disease using iPSC-derived neurons, identifying key genes and validating their roles.

17q21.31 locus regulates Parkinson's disease relevant pathways through KANSL1 activity

The paper investigates how the 17q21.31 locus influences Parkinson's disease through KANSL1 activity, showing haplotype-specific effects on key biological processes.

KAT8 compound inhibition inhibits the initial steps of PINK1-dependant mitophagy

This study shows that KAT8 inhibition via MG149 blocks PINK1-dependent mitophagy initiation but promotes mitochondrial delivery to lysosomes without toxins.

The chromatin modulating NSL complex regulates genes and pathways genetically linked to Parkinsons disease

The paper investigates the regulatory role of the NSL complex in Parkinson's disease by analyzing gene expression and regulatory networks in brain tissues.

Protein network analysis links the NSL complex to Parkinson's disease and mitochondrial biology

The paper identifies the NSL complex's role in Parkinson's disease by analyzing its mitochondrial interactome and linking it to PD-associated genes and pathways.

Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at Chr16q11.2 and on the MAPT H1 allele

The paper identifies KAT8 and KANSL1 as regulators of PINK1-mitophagy linked to Parkinson's disease risk, suggesting a novel pathway for therapeutic targeting.

Human-lineage-specific genomic elements: relevance to neurodegenerative disease and APOE transcript usage

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.

Transcriptomic analysis of dystonia-associated genes reveals functional convergence within specific cell types and shared neurobiology with psychiatric disorders

This study identifies cell-type-specific expression of dystonia-associated genes and links them to shared genetic and biological mechanisms with psychiatric disorders.

Regulatory sites for known and novel splicing in human basal ganglia are enriched for disease-relevant information

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.

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

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.