NIH R01 · 2024
IMPDH1 in photoreceptor function and disease
PROJECT SUMMARY Although purine nucleotide homeostasis is critical to photoreceptor health, basic aspects of purine metabo- lism and its regulation in photoreceptors are unknown. Here, we analyze the critical role of inosine monophos- phate dehydrogenase 1 (IMDPH1) in retinal function and disease. IMPDH1 catalyzes and regulates a critical step in metabolic flow through the parallel de novo adenine and guanine nucleotide biosynthesis pathways. At least a dozen dominant missense mutations in IMPDH1 cause photoreceptor degeneration. We will leverage the recent advances we made with initial support from a two-year R21 award. We combined in vitro biochemical analyses of the human and zebrafish…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.