Glutathione modulates the extracellular matrix organization of craniofacial neural crest cells in Type 3 POLR1C Treacher Collins syndrome

该项目应用polr1c斑马鱼突变体来研究Tracher Collins综合征(TCS)。在突变体中发现了过多的活性氧化物种，我们已经筛选出几种抗氧化剂用于潜在的治疗。在过去的一年里，我们定制了用于斑马鱼骨密度测量的面部微CT分析(Liao et al.2022年)。此外，我们还分析了TCS的基因-表型相关性(Ulhaq等人。2022)和Nager综合征(Ulhaq等人在印刷中)。此外，我们应用开发的方法来研究斑马鱼的运动缺陷(Ulhaq等人。2023年)。最后，发表了一篇关于去泛素酸酯的综述论文(Liu等人。2022年)。

The project applied the polr1c zebrafish mutant to study the Tracher Collins syndrome (TCS). Excessive reactive oxidative species were found in the mutant, and we have screened several anti-oxidants for potential treatment. In the past year, we have customized the facial micro-CT analysis in zebrafish for bone mineral density measurement (Liao et al. 2022). Besides, we analyzed the genotype-phenotype correlations in TCS (Ulhaq et al. 2022) and Nager syndrome (Ulhaq et al. In Press). Furthermore, we applied the developed methodologies to study the motor deficits in zebrafish (Ulhaq et al. 2023). Lastly, a review paper on deubiquitinates has been published (Liu et al. 2022).