NIH R01 · 2024
Decoding reno-protective mechanisms in mouse Pkhd1 models: Implications for ARPKD therapeutics
PROJECT SUMMARY There are ~1,500 patients in the United States with autosomal recessive polycystic kidney disease (ARPKD; MIM 173900), a hepatorenal fibrocystic disorder characterized by enlarged kidneys with innumerable collecting duct cysts and progressive loss of renal function. Essentially all cases of ARPKD can be attributed to mutations in PKHD1, which encodes a single-pass transmembrane protein, fibrocystin/polyductin (FPC). We currently have very little insight into the pathogenesis of human ARPKD and thus, treatment is largely supportive. Striking species-specific differences in the PKHD1/Pkhd1 renal phenotype may offer important insights into disease mechanisms. While human…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.