NIH R01 · 2025
ENPP1 regulation of mammalian bone mass
Inactivating including Ligament early-onset mutations in human ENPP1 results in aberrant soft tissue and skeletal mineralization disorders, Autosomal Recessive Hypophosphatemic Rickets (ARHR2) Ossification of the Posterior Longitudinal (OPLL), and Generalized Arterial Calcification of Infancy (GACI) in homozygous deficiency, and osteoporosis (EOOP) in , ENPP1 haploinsufficiency. ENPP1 deficienct patients therefore exhibit paradoxical mineralization, with concurrent low bone mass and progressive calcifications in kidneys, tendons, and vasculature. Paradoxical mineralization is also present in the general medical population in aging patients, and in patients with chronic kidney disease…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.