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@MISC{Mller:279493,
author = {Müller, Stephan A and Lichtenthaler, Stefan},
title = {{D}ataset: {P}roteomics of {CLN}3-deficient murine
microglia identifies a disease associated phenotype with
lysosomal alterations},
publisher = {PRoteomics IDEntifications Database},
reportid = {DZNE-2025-00820},
year = {2024},
abstract = {Loss-of-function mutations in CLN3 cause juvenile Batten
disease, featuring neurodegeneration and early-stage
neuroinflammation. How loss of CLN3 function leads to early
neuroinflammation is not yet understood. Here, we have
comprehensively studied microglia from Cln3∆ex7/8 mice, a
genetically accurate disease model. Loss of CLN3 function in
microglia leads to lysosomal storage material accumulation
and abnormal morphology of subcellular organelles. We also
discovered pathological proteomic signatures consistent with
defects in lysosomal function and indicative of abnormal
lipid metabolism. CLN3-deficient microglia were unable to
efficiently turnover myelin and metabolize the associated
lipids, showing defects in lipid droplet formation and
cholesterol accumulation.},
cin = {AG Lichtenthaler},
cid = {I:(DE-2719)1110006},
pnm = {352 - Disease Mechanisms (POF4-352)},
pid = {G:(DE-HGF)POF4-352},
typ = {PUB:(DE-HGF)32},
url = {https://pub.dzne.de/record/279493},
}