國家衛生研究院 NHRI:Item 3990099045/16138
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    题名: Fgf8 contributes to the pathogenesis of Nager syndrome
    作者: Ulhaq, ZS;You, MS;Yabe, T;Takada, S;Chen, JK;Ogino, Y;Jiang, YJ;Tse, WKF
    贡献者: Institute of Molecular and Genomic Medicine;Institute of Biomedical Engineering and Nanomedicine
    摘要: Nager syndrome (NS, OMIM 154400) is a rare disease characterized by craniofacial and limb malformations due to variants in the gene encoding splicing factor 3B subunit 4 (SF3B4). Although various noncanonical functions of SF3B4 unrelated to splicing have been previously described, limited studies elucidate molecular mechanisms underlying NS pathogenesis. Here we showed that sf3b4-deficient fish displayed craniofacial and segmentation defects associated with suppression of fgf8 levels, which perturbed FGF signaling and neural crest cell (NCC) expression. Our finding also pointed out that oxidative stress-induced apoptosis was prominently detected in sf3b4-deficient fish and may further exaggerate the bone remodeling process. Notably, injection of exogenous FGF8 significantly rescued the demonstrated defects in sf3b4-deficient fish, which further supported the participation of Fgf8 in NS pathogenesis. Overall, our study provides valuable insights into the molecular mechanism underlying developmental abnormalities observed in NS and suggests future therapeutic strategies to protect against the pathogenesis of NS and possibilities for preventing severe outcomes.
    日期: 2024-11
    關聯: International Journal of Biological Macromolecules. 2024 Nov;280(Part 3):Article number 135692.
    Link to: http://dx.doi.org/10.1016/j.ijbiomac.2024.135692
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0141-8130&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:001333482200001
    Cited Times(Scopus): https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85205437771
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