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@ARTICLE{GonzlezGallego:285049,
author = {González-Gallego, Judit and Todorov-Völgyi, Katalin and
Müller, Stephan A and Antesberger, Sophie and Todorov,
Mihail Ivilinov and Malik, Rainer and Grimalt-Mirada, Rita
and Gonçalves, Carolina Cardoso and Schifferer, Martina and
Kislinger, Georg and Weisheit, Isabel and Lindner, Barbara
and Crusius, Dennis and Kroeger, Joseph and Borri, Mila and
Erturk, Ali and Nelson, Mark and Misgeld, Thomas and
Lichtenthaler, Stefan F and Dichgans, Martin and Paquet,
Dominik},
title = {{A} fully i{PS}-cell-derived 3{D} model of the human
blood-brain barrier for exploring neurovascular disease
mechanisms and therapeutic interventions.},
journal = {Nature neuroscience},
volume = {29},
number = {2},
issn = {1097-6256},
address = {New York, NY},
publisher = {Nature America},
reportid = {DZNE-2026-00173},
pages = {479 - 492},
year = {2026},
abstract = {Blood-brain barrier (BBB) integrity is critical for brain
homeostasis, with malfunctions contributing to neurovascular
and neurodegenerative disorders. Mechanistic studies on BBB
function have been mostly conducted in rodent and in vitro
models, which recapitulate some disease features, but have
limited translatability to humans and pose challenges for
drug discovery. Here we report on a fully human induced
pluripotent stem (iPS)-cell-derived, microfluidic
three-dimensional (3D) BBB model consisting of endothelial
cells (ECs), mural cells and astrocytes. Our model expresses
typical fate markers, forms a barrier in vessel-like tubes
and enables perfusion, including with human blood. Deletion
of FOXF2 in ECs, a major risk gene for cerebral small vessel
disease, induced key features of BBB dysfunction, including
compromised cell junction integrity and enhanced caveolae
formation. Proteomic analysis revealed dysregulated
endocytosis and cell junction pathways. Disease features
phenocopied those seen in mice with EC-specific Foxf2
deficiency. Moreover, lipid-nanoparticle-based treatment
with Foxf2 mRNA rescued BBB deficits, demonstrating the
potential for drug development.},
keywords = {Blood-Brain Barrier: physiology / Humans / Induced
Pluripotent Stem Cells: physiology / Animals / Forkhead
Transcription Factors: genetics / Endothelial Cells:
physiology / Mice / Astrocytes: physiology / Cells, Cultured
/ Forkhead Transcription Factors (NLM Chemicals)},
cin = {AG Lichtenthaler / AG Misgeld / AG Dichgans},
ddc = {610},
cid = {I:(DE-2719)1110006 / I:(DE-2719)1110000-4 /
I:(DE-2719)5000022},
pnm = {352 - Disease Mechanisms (POF4-352) / 351 - Brain Function
(POF4-351) / 353 - Clinical and Health Care Research
(POF4-353)},
pid = {G:(DE-HGF)POF4-352 / G:(DE-HGF)POF4-351 /
G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41398476},
pmc = {pmc:PMC12880921},
doi = {10.1038/s41593-025-02123-w},
url = {https://pub.dzne.de/record/285049},
}