Oriol Busquets

iSCORE-PD: an isogenic stem cell collection to research Parkinson Disease

The paper generates a collection of 65 isogenic human stem cell lines with PD-associated mutations to study Parkinson's disease, revealing that most genetic variation comes from cell culture rather than genome editing.

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.

Familial Parkinson's Disease Mutations Converge on Alternative Splicing Programs Linked to Lysosomal, Autophagic and Vesicle Trafficking Pathways

The paper investigates how familial Parkinson's disease mutations affect pre-mRNA splicing in dopaminergic neurons, identifying five functional classes of splicing changes and potential biomarkers and therapeutic targets.

Highly efficient generation of isogenic pluripotent stem cell models using prime editing

This paper compares prime editing efficiency to conventional methods in human pluripotent stem cells, showing higher efficiency with optimized mRNA delivery for mutation correction and introduction.