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@ARTICLE{TodorovVlgyi:285050,
author = {Todorov-Völgyi, Katalin and González-Gallego, Judit and
Müller, Stephan A and Todorov, Mihail Ivilinov and Seker,
Fatma Burcu and Frerich, Simon and Cernilogar, Filippo M and
Schröger, Luise and Malik, Rainer and Cao, Jiayu and
Llovera, Gemma and Roth, Stefan and Schillinger, Ulrike and
Schifferer, Martina and Reyahi, Azadeh and Crusius, Dennis
and Pedro, Liliana D and Simons, Mikael and Carlsson, Peter
and Ertürk, Ali and Liesz, Arthur and Schotta, Gunnar and
Plesnila, Nikolaus and Lichtenthaler, Stefan F and Paquet,
Dominik and Dichgans, Martin},
title = {{T}he stroke risk gene {F}oxf2 maintains brain endothelial
cell function via {T}ie2 signaling.},
journal = {Nature neuroscience},
volume = {29},
number = {2},
issn = {1097-6256},
address = {New York, NY},
publisher = {Nature America},
reportid = {DZNE-2026-00174},
pages = {325 - 336},
year = {2026},
abstract = {Cerebral small vessel disease (SVD) is a common chronic
cerebrovascular disorder with poorly understood
pathomechanisms. Genetic studies have identified FOXF2 as a
major risk gene for both SVD and stroke. FOXF2 encodes a
transcription factor primarily expressed in brain pericytes
and endothelial cells (ECs); however, its mechanistic role
in cerebrovascular disease remains unknown. Here we show
that Foxf2 maintains EC function through Tie2 signaling. RNA
and chromatin sequencing identified FOXF2 as a
transcriptional activator of Tie2 and other endothelial
lineage-specific genes. The deletion of EC-specific Foxf2 in
adult mice resulted in blood-brain barrier leakage, which
worsened after experimental stroke. Proteomic analyses of
Foxf2-deficient mouse brain-derived and human-induced
pluripotent stem cell-derived ECs that lack FOXF2 revealed a
downregulation of multiple proteins involved in Tie2
signaling. Endothelial Foxf2 deficiency impaired functional
hyperemia, reduced NO production and increased infarct size
through disrupted Tie2 signaling, effects that were rescued
by pharmacological activation of Tie2 with AKB-9778.
Collectively, our results highlight the critical role of
Foxf2-regulated Tie2 signaling in SVD and stroke, suggesting
new avenues for therapeutic interventions.},
keywords = {Animals / Forkhead Transcription Factors: genetics /
Forkhead Transcription Factors: metabolism / Endothelial
Cells: metabolism / Endothelial Cells: physiology /
Receptor, TIE-2: metabolism / Receptor, TIE-2: genetics /
Mice / Signal Transduction: physiology / Signal
Transduction: genetics / Stroke: genetics / Stroke:
metabolism / Brain: metabolism / Humans / Blood-Brain
Barrier: metabolism / Mice, Knockout / Male / Cerebral Small
Vessel Diseases: genetics / Cerebral Small Vessel Diseases:
metabolism / Mice, Inbred C57BL / Forkhead Transcription
Factors (NLM Chemicals) / Receptor, TIE-2 (NLM Chemicals) /
Tek protein, mouse (NLM Chemicals) / Foxf2 protein, mouse
(NLM Chemicals)},
cin = {AG Dichgans / AG Lichtenthaler / AG Misgeld / AG Simons},
ddc = {610},
cid = {I:(DE-2719)5000022 / I:(DE-2719)1110006 /
I:(DE-2719)1110000-4 / I:(DE-2719)1110008},
pnm = {353 - Clinical and Health Care Research (POF4-353) / 352 -
Disease Mechanisms (POF4-352) / 351 - Brain Function
(POF4-351)},
pid = {G:(DE-HGF)POF4-353 / G:(DE-HGF)POF4-352 /
G:(DE-HGF)POF4-351},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41398477},
pmc = {pmc:PMC12880920},
doi = {10.1038/s41593-025-02136-5},
url = {https://pub.dzne.de/record/285050},
}