Walker Bridget M, Zimmerman Caryn N, Caruth Katherine M, Knutson Bruce A, Palumbo Ryan J
Department of Biochemistry & Molecular Biology, SUNY Upstate Medical University, Syracuse, New York, United States.
MicroPubl Biol. 2025 Jun 12;2025. doi: 10.17912/micropub.biology.001634. eCollection 2025.
is a versatile platform for small-molecule screening across many disease models. Here, we utilized a model carrying a clinically relevant mutation in Polr1D to test the antioxidant N-acetyl- -cysteine (NAC) for therapeutic potential. Treating heterozygous mothers with NAC partially suppressed the developmental defects of their homozygous mutant larvae. These findings are consistent with antioxidant rescue effects observed in zebrafish and mouse models of Treacher Collins Syndrome (TCS). Our results demonstrate the value of a mutant model for identifying chemical suppressors and accelerating the discovery of promising therapeutics in disorders like TCS.
是一个适用于多种疾病模型中小分子筛选的多功能平台。在此，我们利用一个在Polr1D中携带临床相关突变的模型来测试抗氧化剂N-乙酰半胱氨酸（NAC）的治疗潜力。用NAC处理杂合子母亲可部分抑制其纯合子突变幼虫的发育缺陷。这些发现与在特雷彻·柯林斯综合征（TCS）的斑马鱼和小鼠模型中观察到的抗氧化剂拯救效应一致。我们的结果证明了一个突变模型在识别化学抑制剂和加速发现TCS等疾病中有前景的治疗方法方面的价值。
