PXD064202

PXD064202 is an original dataset announced via ProteomeXchange.

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

Revision	Datetime	Status	ChangeLog Entry
0	2025-05-22 10:47:11	ID requested
⏵ 1	2026-06-07 23:14:30	announced

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;

submitter keyword: Batten disease

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

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/2026/06/PXD064202

PRIDE project URI

• PRIDE
  1. PXD064202
     1. Label: PRIDE project
     2. Name: Modeling CLN3 Batten disease in astrocytes reveals dysfunctions in mitochondria, fatty acid metabolism and chromatin dynamics