Comparison of Alternative pre-mRNA Splicing and Gene Expression Patterns in Midbrain Lineage Cells Carrying Familial Parkinson's Disease Mutations
This study analyzes global gene expression and pre-mRNA splicing patterns in midbrain lineage cells derived from human pluripotent stem cells carrying 12 distinct familial Parkinson's disease mutations, revealing mutation-specific splicing changes linked to key cellular defects that overlap with postmortem brain findings and may serve as diagnostic biomarkers or therapeutic targets.