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

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

EMBO molecular medicine（2023）

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摘要

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.

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extracellular matrix

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