PXD068278 is an
original dataset announced via ProteomeXchange.
Dataset Summary
| Title | Transcriptomic and proteomic insights into progressive myoclonus epilepsy, EPM1 |
| Description | Progressive myoclonus epilepsy EPM1 is a rare neurodegenerative disorder resulting from the partial loss of function of cystatin B (CSTB), a cysteine protease inhibitor with neuroprotective roles. The disease's mechanisms are not fully understood, and no treatments exist to manage the severe myoclonus associated with EPM1. Analyses of proteome and transcriptome data in CSTB-deficient (Cstb-/-) mouse brains—specifically the cerebellum, cerebral cortex, and hippocampus—during disease progression revealed three critical pathways as potential therapeutic targets: 1) an upregulation of immune response genes indicating increased immune activity across all brain regions, 2) a downregulation of the oxidative phosphorylation pathway suggesting impaired energy metabolism, and 3) lysosomal dysfunction, evidenced by upregulated genes necessary for lysosomal function and downregulated genes for lysosomal acidification. Additionally, clusterin, apolipoprotein E, peroxiredoxin 6, cathepsin D, and aldolase C were identified as potential biomarkers for disease progression. |
| HostingRepository | PRIDE |
| AnnounceDate | 2026-04-27 |
| AnnouncementXML | Submission_2026-04-27_13:37:24.870.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Unsupported dataset by repository |
| PrimarySubmitter | Ingrid Maria Erika Ekman Stensland |
| SpeciesList | scientific name: Mus musculus (Mouse); NCBI TaxID: NEWT:10090; |
| ModificationList | No PTMs are included in the dataset |
| Instrument | Q Exactive HF |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|
| 0 | 2025-09-11 00:36:35 | ID requested | |
| ⏵ 1 | 2026-04-27 13:37:25 | announced | |
Publication List
| 10.1242/dmm.052681; |
| Malyutina A, Lund C, Tegelberg S, Hakala P, Nyman TA, Lehesjoki AE, Joensuu T, Transcriptomic and proteomic insights into progressive myoclonus epilepsy type 1. Dis Model Mech, 19(4):(2026) [pubmed] |
Keyword List
| submitter keyword: proteomics, brain, Cstb-/- mouse, cystatin B, transcriptomics,EPM1 |
Contact List
| Tuula Nyman |
|---|
| contact affiliation | Oslo University Hospital |
| contact email | t.a.nyman@medisin.uio.no |
| lab head | |
| Ingrid Maria Erika Ekman Stensland |
|---|
| contact affiliation | Oslo University hospital |
| contact email | maria.stensland@medisin.uio.no |
| dataset submitter | |
Full Dataset Link List
Dataset FTP location
NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD068278 |
| PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD068278
- Label: PRIDE project
- Name: Transcriptomic and proteomic insights into progressive myoclonus epilepsy, EPM1
