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

doi:10.15252/emmm.202317528

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

EMBO Mol Med. 2023 Jul 10;15(7):e17528. doi: 10.15252/emmm.202317528. Epub 2023 Jun 9.

Authors

Julia Etich^{1

2}, Oliver Semler^{2

3

4}, Nicola L Stevenson⁵, Alice Stephan^{1

2}, Roberta Besio⁶, Nadia Garibaldi^{6

7}, Nadine Reintjes⁸, Claudia Dafinger^{2

9}, Max Christoph Liebau^{2

3

4

9

10}, Ulrich Baumann¹¹, Matthias Mörgelin¹², Antonella Forlino⁶, David J Stephens⁵, Christian Netzer^{3

8}, Frank Zaucke¹, Mirko Rehberg^{2

4}

Affiliations

¹ Dr. Rolf M. Schwiete Research Unit for Osteoarthritis, Department of Orthopedics (Friedrichsheim), University Hospital Frankfurt, Goethe University Frankfurt/Main, Frankfurt, Germany.
² Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
³ Center for Rare Diseases, University Hospital Cologne, University of Cologne, Cologne, Germany.
⁴ Center for Family Health, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
⁵ Cell Biology Laboratories, School of Biochemistry, Faculty of Life Sciences, University Walk, University of Bristol, Bristol, UK.
⁶ Biochemistry Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.
⁷ Department of Biomedical Engineering, The City College of New York, New York, NY, USA.
⁸ Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
⁹ Department II of Internal Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
¹⁰ Center for Molecular Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
¹¹ Institute of Biochemistry, University of Cologne, Cologne, Germany.
¹² Colzyx AB, Lund, Sweden.

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.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Collagen Type I / genetics
Extracellular Matrix
Humans
Mutation
Osteogenesis Imperfecta* / diagnosis
Osteogenesis Imperfecta* / genetics
Signal Transduction

Substances

Collagen Type I

Grants and funding

BB/T001984/1/BB_/Biotechnology and Biological Sciences Research Council/United Kingdom