PXD064202 is an
original dataset announced via ProteomeXchange.
Dataset Summary
| Title | Modeling CLN3 Batten disease in astrocytes reveals dysfunctions in mitochondria, fatty acid metabolism and chromatin dynamics |
| Description | CLN3 Batten disease is a severe pediatric neurodegenerative disorder caused by mutations in the CLN3 gene, most commonly a 1 kb deletion affecting exons 7 and 8. While research has focused on neuronal dysfunction, glial cells are increasingly recognized as key contributors to disease pathology. Among them, astrocytes, the most abundant glial cell type in the brain, are essential for neuron health and may play critical roles in disease progression. Here, we present the first iPSC-derived astrocyte model from a patient with the 1 kb deletion. Transcriptomic and proteomic analyses during astrocyte differentiation revealed significant disruptions in mitochondrial function, fatty acid metabolism, and oxidative stress, with minimal impact on lysosomal homeostasis. These findings prompt the hypothesis that mitochondrial dysfunction may precede lysosomal defects in CLN3-deficient astrocytes. Restoring mitochondrial health could improve brain metabolism, inflammation control, neurotransmitter regulation, and neuronal survival, highlighting mitochondria as promising therapeutic targets in CLN3 Batten disease. |
| HostingRepository | PRIDE |
| AnnounceDate | 2026-06-08 |
| AnnouncementXML | Submission_2026-06-07_23:14:29.310.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Unsupported dataset by repository |
| PrimarySubmitter | Animesh Sharma |
| SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606; |
| ModificationList | deamidated residue |
| Instrument | timsTOF Pro |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|
| 0 | 2025-05-22 10:47:11 | ID requested | |
| ⏵ 1 | 2026-06-07 23:14:30 | announced | |
Publication List
| Yang M, Wang W, C, á, mara-Qu, í, lez M, Farsund BH, Andersen NN, Garten K, Sharma A, Lin X, Å, mellem I, Ravlo E, Ye J, Bj, ø, r, å, s M, de Sousa MML, Modeling CLN3 Batten disease in astrocytes reveals alterations in mitochondria homeostasis, fatty acid metabolism and oxidative stress response. J Biomed Sci, 33(1):(2026) [pubmed] |
| 10.1186/s12929-026-01253-y; |
Keyword List
| submitter keyword: Batten disease |
Contact List
| Mirta Mittelstedt Leal de Sousa |
|---|
| contact affiliation | Senior Forsker Institutt for klinisk og molekylær medisin Laboratoriesenteret, 231.05.032, Øya, Erling Skjalgssons g 1 Department of Cancer Research and Molecular Medicine, NTNU, Norway. |
| contact email | mirta.de.sousa@ntnu.no |
| lab head | |
| Animesh Sharma |
|---|
| contact affiliation | Engineer at NTNU, Norway |
| contact email | sharma.animesh@gmail.com |
| dataset submitter | |
Full Dataset Link List
Dataset FTP location
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| PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD064202
- Label: PRIDE project
- Name: Modeling CLN3 Batten disease in astrocytes reveals dysfunctions in mitochondria, fatty acid metabolism and chromatin dynamics
