GEOapplication/xmlftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE329nnn/GSE329154/primary200OKTranscriptomicsHomo sapiensExpression profiling by high throughput sequencinghttps://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE329154GEOGSEfalseLimited Evidence of Microexon Skipping in Parkinson’s Disease and Spinocerebellar Ataxia Type 3Background: Microexons are short exonic sequences of 3–30 nucleotides that undergo alternative splicing and have been implicated in several neurodevelopmental disorders. However, their potential contribution to neurodegenerative diseases remains insufficiently characterized. Methods: We performed a systematic analysis of microexon skipping in the frontal cortex of Parkinson’s disease (PD) patients and the cerebellum of Spinocerebellar Ataxia Type 3 (SCA3) patients using deep RNA-Sequencing of human postmortem brain tissue and corresponding SH-SY5Y cellular models. Microexon-associated junction usage was quantified based on splice junction reads derived from STAR alignments, followed by statistical testing and p-value calculation, with visualization using Sashimi plots. Results: Across all datasets, 17 microexon-associated junction events showed statistically significant differential usage. Human brain tissue exhibited a substantially higher number of detectable microexons compared to cellular models, underscoring differences in splicing complexity between differentiated tissue and neuroblastoma-derived cells. While visual inspection suggested that effect sizes were generally small and variable across samples, the majority of microexon-containing genes were robustly expressed in both systems. Conclusion: Our findings present an overview of microexon landscapes in PD and SCA3 and provide a systematic statistical analysis. Although large and consistent disease-specific skipping patterns were not observed under the present conditions, the data indicate that microexon regulation in neurodegeneration may involve subtle and context-dependent alterations that warrant further investigation in larger cohorts and more physiologically relevant cell models.2026/09/22GSE329154GSM9698370GSM10065798GSM9698369GSM9698368GSM10065797GSM9698367GSM10065800GSM10065799GSM10065802GSM10065801GSM10065804GSM9698374GSM9698373GSM10065803GSM9698372GSM969837124676329154Homo sapiens