2025/09/10 by Taryn Stokowski, Pram Thennakoonwela, Rebecca Brassington +6 · 1 voice · 1 citation
Medicine · Biochemistry, Genetics and Molecular Biology · #Peptidase Inhibition and Analysis #Cell Adhesion Molecules Research #Signaling Pathways in Disease
paper · pdf · doi:10.1016/j.ekir.2025.09.007
openalex publication_date 2025/09/10 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/23
Prolidase deficiency (PD) is a rare disorder caused by a recessive mutation in the gene encoding prolidase D, PEPD, which disrupts the metabolism of collagen and other proline-containing proteins.1 This defective pathway is responsible for the chronic skin ulcers, defective wound healing, facial and skeletal abnormalities, and developmental delay (from disorganization of the pial basement membrane in the cerebral cortex) that are often seen in PD.