EMBO Molecular Medicine (Jun 2023)
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
Affiliations
- Julia Etich
- Dr. Rolf M. Schwiete Research Unit for Osteoarthritis, Department of Orthopedics (Friedrichsheim), University Hospital Frankfurt, Goethe University Frankfurt/Main
- Oliver Semler
- Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne
- Nicola L Stevenson
- Cell Biology Laboratories, School of Biochemistry, Faculty of Life Sciences, University Walk, University of Bristol
- Alice Stephan
- Dr. Rolf M. Schwiete Research Unit for Osteoarthritis, Department of Orthopedics (Friedrichsheim), University Hospital Frankfurt, Goethe University Frankfurt/Main
- Roberta Besio
- Biochemistry Unit, Department of Molecular Medicine, University of Pavia
- Nadia Garibaldi
- Biochemistry Unit, Department of Molecular Medicine, University of Pavia
- Nadine Reintjes
- Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne
- Claudia Dafinger
- Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne
- Max Christoph Liebau
- Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne
- Ulrich Baumann
- Institute of Biochemistry, University of Cologne
- Matthias Mörgelin
- Colzyx AB
- Antonella Forlino
- Biochemistry Unit, Department of Molecular Medicine, University of Pavia
- David J Stephens
- Cell Biology Laboratories, School of Biochemistry, Faculty of Life Sciences, University Walk, University of Bristol
- Christian Netzer
- Center for Rare Diseases, University Hospital Cologne, University of Cologne
- Frank Zaucke
- Dr. Rolf M. Schwiete Research Unit for Osteoarthritis, Department of Orthopedics (Friedrichsheim), University Hospital Frankfurt, Goethe University Frankfurt/Main
- Mirko Rehberg
- Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne
- DOI
- https://doi.org/10.15252/emmm.202317528
- Journal volume & issue
-
Vol. 15,
no. 7
pp. 1 – 5
Abstract
Graphical Abstract 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.
