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Mutations in GFAP Alter Early Lineage Commitment of Organoids

W. Dykstra, Z. Matusova, RA. Battaglia, P. Abaffy, N. Goya-Iglesias, D. Pérez-Sala, H. Ahlenius, M. Kubista, RJ. Pasterkamp, L. Li, J. Chao, Y. Shi, L. Valihrach, M. Pekny, EM. Hol

. 2025 ; 73 (11) : 2167-2188. [pub] 20250730

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc25021385

Grantová podpora
LCF/PR/HR21/52410002 'la Caixa' Foundation
EJP RD 2019 ALEXANDER European Joint Programme on Rare Diseases
FO02021-0082 Svenska Sällskapet för Medicinsk Forskning
FO2022-1032 Svenska Sällskapet för Medicinsk Forskning
2018-02695 Vetenskapsrådet
2020-01148 Vetenskapsrådet
2019-00284 Vetenskapsrådet
Söderberg's Foundations
146051 ALF Gothenburg
965939 ALF Gothenburg
M-2019-1026 Petrus och Augusta Hedlunds Stiftelse
M2018-0803 Petrus och Augusta Hedlunds Stiftelse
24-11364S Czech science foundation
24-12028S Czech science foundation
Amlöv's Foundation
10.13039/501100011033 Agencia Estatal de Investigación
RVO 86652036 Institute of Biotechnology of the Czech Academy of Sciences (IBT CAS) institutional support
463002004 ZonMw - Netherlands
PID2021-126827OB-I00 MICIN and ERDF
RTI2018-097624-B-I00 MICIN and ERDF
PIPF-2022/SAL-GL-25771 Comunidad Autónoma de Madrid
463002004 ZonMw - Netherlands

Glial fibrillary acidic protein (GFAP) is a type-3 intermediate filament protein mainly expressed in astrocytes in the central nervous system. Mutations in GFAP cause Alexander disease (AxD), a rare and fatal neurological disorder. How exactly mutant GFAP eventually leads to white and gray matter deterioration in AxD remains unknown. GFAP is known to be expressed also in neural precursor cells in the developing brain. Here, we used AxD patient-derived induced pluripotent stem cells (iPSCs) to explore the impact of mutant GFAP during neurodifferentiation. Our results show that GFAP is already expressed in iPSCs. Moreover, we have found that mutations in GFAP can severely affect neural organoid development through altering lineage commitment in embryoid bodies. Together, these results support the notion that GFAP plays a role as an early modulator of neurodevelopment.

Citace poskytuje Crossref.org

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