Evidence map›Paper›PMID 42824267›Full record

ArticleFrontiers in molecular neuroscience2026

Assessment of microexon-associated junction usage in Parkinson's disease and spinocerebellar Ataxia type 3.

Kira Mehnert, Jeannette Hübener-Schmid, Jakob Admard, Vladislav Lysenkov, German Demidov, Chrisovalantou Huridou, Jonasz Jeremiasz Weber, Olaf Riess, Nicolas Casadei

Abstract read
In one paragraph

Article in Frontiers in molecular neuroscience, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Kira MehnertInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Jeannette Hübener-SchmidInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Jakob AdmardInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Vladislav LysenkovInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
German DemidovInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Chrisovalantou HuridouDepartment of Human Genetics, Ruhr University Bochum, Bochum, Germany.
Jonasz Jeremiasz WeberDepartment of Human Genetics, Ruhr University Bochum, Bochum, Germany.
Olaf RiessInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Nicolas CasadeiInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Microexons are short exonic sequences of 3-30 nucleotides that undergo alternative splicing and have been implicated in several neurodevelopmental disorders. However, their contribution to neurodegenerative diseases remains insufficiently characterized. Methods: We analyzed microexon-associated junction usage in the frontal cortex of Parkinson's disease (PD) patients and in 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 with false discovery rate (FDR) correction for multiple testing and visualization using Sashimi plots. Selected candidate events in the cellular datasets were assessed by PCR. Results: Across all datasets, 19 microexon-associated junction candidate events were identified but did not survive FDR correction. Human brain tissue exhibited substantially more detectable microexons compared to cellular models, which may reflect 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 expressed in both systems. PCR confirmed detection of the selected microexons but did not validate differences in microexon-associated junction usage between experimental groups. Conclusion: Our findings provide an overview of microexon landscapes in PD and SCA3 and an exploratory statistical analysis. Although large and consistent disease-specific patterns of microexon-associated junction usage were not observed, our findings suggest that microexon regulation in neurodegeneration may involve subtle and context-dependent alterations that warrant further investigation in larger cohorts.

Indexed as

exon skippingmicroexonsneurodegenerationParkinson’s diseasespinocerebellar ataxia type 3

Identifiers

PMID42824267
PMCPMC13627293

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.