NIH R01 · 2025
Restoring Ocrl1 function in Lowe Syndrome and Dent-2 disease
Lowe Syndrome (LS) is a disease caused by mutations in the OCRL1 gene that unfortunately leads to the early death of affected children and has no cure. However, this project aims to change such scenario. Further, since OCRL1 mutations also cause a related renal condition known as Dent-2 (D2) disease, this proposal will also benefit D2 patients. LS patients display mental retardation, ocular (e.g., glaucoma, cataracts) and renal (e.g., kidney stones, LMW proteinuria) abnormalities, while D2 patients show renal symptoms almost exclusively. Although most OCRL1 missense mutations found in patients alter the phosphatase domain of the encoded protein Ocrl1, about half of these changes do not…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.