Ontology highlight
ABSTRACT:
SUBMITTER: Pokidysheva E
PROVIDER: S-EPMC3570717 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Pokidysheva Elena E Tufa Sara S Bresee Chris C Brigande John V JV Bächinger Hans Peter HP
Matrix biology : journal of the International Society for Matrix Biology 20121124 1
Prolyl 3-hydroxylase1 (P3H1) is a collagen modifying enzyme which hydroxylates certain prolines in the Xaa position of conventional GlyXaaYaa triple helical sequence. Recent investigations have revealed that mutations in the LEPRE1 (gene encoding for P3H1) cause severe osteogenesis imperfecta (OI) in humans. Similarly LEPRE1 knockout mice display an OI-like phenotype. Significant hearing loss is a common problem for people with osteogenesis imperfecta. Here we report that hearing of the P3H1 nul ...[more]