Plastin 3 in X-Linked Osteoporosis: Imbalance of Ca²⁺-Dependent Regulation Is Equivalent to Protein Loss.

ABSTRACT: Osteogenesis imperfecta is a genetic disorder disrupting bone development and remodeling. The primary causes of osteogenesis imperfecta are pathogenic variants of collagen and collagen processing genes. However, recently variants of the actin bundling protein plastin 3 have been identified as another source of osteogenesis imperfecta. Plastin 3 is a highly conserved protein involved in several important cellular structures and processes and is controlled by intracellular Ca²⁺ which potently inhibits its actin-bundling activity. The precise mechanisms by which plastin 3 causes osteogenesis imperfecta remain unclear, but recent advances have contributed to our understanding of bone development and the actin cytoskeleton. Here, we review the link between plastin 3 and osteogenesis

SUBMITTER: Schwebach CL 

PROVIDER: S-EPMC7859272 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature