Evidence map›Paper›PMID 41298695›Full record

ArticleScientific reports2025

Multiomics approach identifies SERPINB1 as candidate biomarker for spinocerebellar ataxia type 2.

Luis E Almaguer-Mederos, Jana Key, Nesli-Ece Sen, Julia Canet-Pons, Claudia Döring, David Meierhofer, Suzana Gispert-Sánchez, Dany Cuello-Almarales, Dennis Almaguer-Gotay, Lidia M Osorio-González and 3 more

Abstract read
In one paragraph

Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Article
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

13 authors.

Luis E Almaguer-MederosUniversity Hospital, Clinic of Neurology, Exp. Neurology, Goethe University, Frankfurt am Main, Germany.
Jana KeyUniversity Hospital, Clinic of Neurology, Exp. Neurology, Goethe University, Frankfurt am Main, Germany.
Nesli-Ece SenUniversity Hospital, Clinic of Neurology, Exp. Neurology, Goethe University, Frankfurt am Main, Germany.
Julia Canet-PonsUniversity Hospital, Clinic of Neurology, Exp. Neurology, Goethe University, Frankfurt am Main, Germany.
Claudia DöringMedical Faculty, Dr. Senckenberg Institute of Pathology, Goethe University, Frankfurt am Main, Germany.
David MeierhoferMax Planck Institute for Molecular Genetics, Berlin, Germany.
Suzana Gispert-SánchezUniversity Hospital, Clinic of Neurology, Exp. Neurology, Goethe University, Frankfurt am Main, Germany.
Dany Cuello-AlmaralesCenter for the Investigation and Rehabilitation of Hereditary Ataxias, Holguín, Cuba.
Dennis Almaguer-GotayCenter for the Investigation and Rehabilitation of Hereditary Ataxias, Holguín, Cuba.
Lidia M Osorio-GonzálezCenter for the Investigation and Rehabilitation of Hereditary Ataxias, Holguín, Cuba.
Raúl Aguilera-RodríguezCenter for the Investigation and Rehabilitation of Hereditary Ataxias, Holguín, Cuba.
Jacqueline Medrano-MonteroCenter for the Investigation and Rehabilitation of Hereditary Ataxias, Holguín, Cuba.
Georg AuburgerUniversity Hospital, Clinic of Neurology, Exp. Neurology, Goethe University, Frankfurt am Main, Germany. auburger@em.uni-frankfurt.de.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinocerebellar ataxia type 2 (SCA2) is a polyglutamine disorder, and variants in its disease protein Ataxin-2 act as modifiers in the progression of Amyotrophic Lateral Sclerosis. There are no reliable molecular biomarkers for SCA2. The aim of this study was to define novel molecular biomarker candidates for SCA2. Using cerebellar and cervicothoracic spinal cord RNA/protein from Atxn2-CAG100-KnockIn (KIN) and wildtype mice, a multi-omics study was conducted based on the integration of global transcriptomic, proteomic, and phosphoproteomic data, followed by validation in mice and humans. Venn diagram comparisons across all OMICS datasets indicated that only Serpinb1a-transcript, SERPINB1A-protein and -phosphopeptides were consistently downregulated at terminal stage in 14-month-old KIN mice. Expression studies in cerebellum and spinal cord from 10 weeks (pre-manifest), 6-month-old (early ataxic), and 14-month-old (late ataxic stage) mice confirmed this progressive decrease at mRNA and protein level. SERPINB1 plasma levels were significantly lower in early-stage SCA2 patients, and displayed a significant association with the CAG repeat length at expanded ATXN2 alleles, the age at onset and INAS count. However, these human data from this SCA2 founder population were not robust, so reappraisal in large international studies and at later disease stages of SCA2 is needed. SERPINB1 was identified as novel candidate progression biomarker for SCA2 pathomechanisms.

Indexed as

SerpinsSpinocerebellar AtaxiasAnimalsAtaxin-2BiomarkersCerebellumDisease Models, AnimalFemaleHumansMaleMiceMiddle AgedMultiomicsProteomicsSpinal CordAtaxin-2BiomarkersSerpinsBiomarkersPolyglutamineProteostasisSERPINB1Spinocerebellar ataxias

Identifiers

PMID41298695
PMCPMC12663351

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.