Propionic Acidemia Research
Propionic Acidemia is a rare disorder with an estimated incidence of 1:35,000 – 1:70,000 births. There are over 70 identified gene mutations that can cause PA. Different mutations lead to different amounts of enzyme activity. The amount of enzyme activity determines the body’s ability to break down parts of protein and certain fats. 这与每个人的个体基因化妆组合意味着每个受影响的个体都会有一个个性化的治疗方案和饮食,en. It also means that the cure may vary depending on the mutation.
Research is critical to gathering more information on PA and how it effects the body and organs. In order to encourage new research and help continue funding current researchers, funds are needed for both basic research in the laboratory and clinical research on the individuals. Long term studies are needed to track how PA effects the various organs in the body.
There is a lot to be done…. If you are interested in becoming more involved with PAF, please contact us at [email protected]
Previously awarded project titles:
- 丙酸血症的详细心脏功能和电表型分析
- 丙酸血症中异常的蛋白质丙酰化和明显的组蛋白标记: 心脏病的新疾病机制和危险因素
- 减少底物是丙酸血症的一种新型治疗策略
- 化学伴侣处理以恢复丙酰辅酶A羧化酶折叠突变中的酶活性。: 丙酸血症的个性化治疗策略 (PA)
- 优化医疗食品中的氨基酸以控制丙酸血症
- 丙酰辅酶A和丙酰肉碱介导丙酸血症患者的心脏并发症
- 诱导性多能干细胞衍生的心肌细胞作为丙酸血症治疗发展的新模型
- Diversion of Isoleucine and Valine Oxidative Pathway to Reduce the Propionogenic Load in Propionic Acidemia
- Serine and Thiol Metabolism in Propionic Acidemia
- Novel RX for propionic acidemia
- 丙酸血症的酶替代疗法
- Genotype-phenotype correlations in propionic acidemia
- Crystallization and structure determination of human propionyl CoA carboxylase
- 神经表型及治疗中的丙酸血症小鼠
- 翻译丙酰辅酶A羧化酶基因治疗的可行性 (PCCA) 不足
- Biomarkers for Neurological Injury in Propionic Acidemia
- 丙酸血症患者和他们的载波父母的基因表达概况
- 丙酸血症能量不足?
- 丙酸血症对脑星形胶质细胞的影响,,en,关于更多信息,,en,批过程,,en: 在体外模型，以测试线粒体在PA治疗
- A prospective study of biochemical parameters reflective of metabolic control in propionic acidemia
More information on the grant process.