Donald C. Rio

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.

An isogenic single-cell atlas of familial Parkinson's disease mutations reveals convergent changes in dopamine neurons

This study creates an isogenic single-cell atlas of familial Parkinson's disease mutations, revealing shared transcriptional changes in dopamine neurons across diverse genetic backgrounds.

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.

Splicing accuracy varies across human introns, tissues and age

The paper examines mis-splicing across human introns, tissues, and age using RNA-sequencing data, finding correlations with spliceosome components and age-related neurodegenerative disease genes.

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.

The Junction Usage Model (JUM): A method for comprehensive annotation-free analysis of alternative pre-mRNA splicing patterns

The paper introduces JUM, a method for analyzing alternative pre-mRNA splicing without prior annotations, showing improved detection of novel splicing events and reduced false positives.