Low molecular weight proteinuria caused by a mutation of the Vesicle Associated Protein (VAP) (A07)

囊泡相关蛋白 (VAP) 突变引起的低分子量蛋白尿 (A07)

• 批准号: 415846735
• 金额: --
• 依托单位: Lehrstuhl Medizinische Zellbiologie
• 依托单位国家: 德国
• 项目类别: Collaborative Research Centres
• 财政年份: 2019
• 资助国家: 德国
• 起止时间: 2018-12-31 至 2021-12-31
• 项目状态: 已结题
• 来源: https://gepris.dfg.de/gepris/projekt/415846735?language=en
• 关键词: Low; molecular; weight; proteinuria; caused

The project deals with a previously unknown autosomal recessive disease, in which a mutation in the gene of the "vesicle-associated protein" (VAP) leads to reduced protein uptake in the proximal tubule and to “low-molecular-weight” proteinuria. The role of VAP in the kidney is unknown and will be investigated with the help of genetically modified mice and cell models. The expected results will contribute to a better understanding of protein resorption in the kidney and provide insights into the pathogenesis and tubular signaling in this unknown disease.

该项目涉及一种以前未知的常染色体隐性遗传病，其中“囊泡相关蛋白”（VAP）基因突变导致近端小管蛋白质摄取减少和“低分子量”蛋白尿。VAP在肾脏中的作用尚不清楚，将在转基因小鼠和细胞模型的帮助下进行研究。预期的结果将有助于更好地了解肾脏中的蛋白质吸收，并为这种未知疾病的发病机制和小管信号传导提供见解。