TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.

EMBO molecular medicine 2023 Jul 10

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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. © 2023 The Authors. Published under the terms of the CC BY 4.0 license.

Citation

Julia Etich, Oliver Semler, Nicola L Stevenson, Alice Stephan, Roberta Besio, Nadia Garibaldi, Nadine Reintjes, Claudia Dafinger, Max Christoph Liebau, Ulrich Baumann, Matthias Mörgelin, Antonella Forlino, David J Stephens, Christian Netzer, Frank Zaucke, Mirko Rehberg. TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta. EMBO molecular medicine. 2023 Jul 10;15(7):e17528