TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.
Julia EtichOliver SemlerNicola L StevensonAlice StephanRoberta BesioNadia GaribaldiNadine ReintjesClaudia DafingerMax Christoph LiebauUlrich BaumannMatthias MörgelinAntonella ForlinoDavid J StephensChristian NetzerFrank ZauckeMirko RehbergPublished in: EMBO molecular medicine (2023)
Osteogenesis imperfecta (OI) is a hereditary skeletal disorder primarily affecting collagen type I structure and function, causing bone fragility and occasionally versatile extraskeletal symptoms. This study expands the spectrum of OI-causing TAPT1 mutations and links extracellular matrix changes to signaling regulation.