Nature Communications (Jul 2016)
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
- Uschi Lindert,
- Wayne A. Cabral,
- Surasawadee Ausavarat,
- Siraprapa Tongkobpetch,
- Katja Ludin,
- Aileen M. Barnes,
- Patra Yeetong,
- Maryann Weis,
- Birgit Krabichler,
- Chalurmpon Srichomthong,
- Elena N. Makareeva,
- Andreas R. Janecke,
- Sergey Leikin,
- Benno Röthlisberger,
- Marianne Rohrbach,
- Ingo Kennerknecht,
- David R. Eyre,
- Kanya Suphapeetiporn,
- Cecilia Giunta,
- Joan C. Marini,
- Vorasuk Shotelersuk
Affiliations
- Uschi Lindert
- Division of Metabolism, Connective Tissue Unit and Children’s Research Center, University Children’s Hospital Zurich
- Wayne A. Cabral
- Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, National Institutes of Health
- Surasawadee Ausavarat
- Department of Pediatrics, Center of Excellence for Medical Genetics, Faculty of Medicine, Chulalongkorn University
- Siraprapa Tongkobpetch
- Department of Pediatrics, Center of Excellence for Medical Genetics, Faculty of Medicine, Chulalongkorn University
- Katja Ludin
- Department of Medical Genetics, Center for Laboratory Medicine
- Aileen M. Barnes
- Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, National Institutes of Health
- Patra Yeetong
- Department of Pediatrics, Center of Excellence for Medical Genetics, Faculty of Medicine, Chulalongkorn University
- Maryann Weis
- Department of Orthopedics and Sports Medicine, University of Washington
- Birgit Krabichler
- Division of Human Genetics, Medical University of Innsbruck
- Chalurmpon Srichomthong
- Department of Pediatrics, Center of Excellence for Medical Genetics, Faculty of Medicine, Chulalongkorn University
- Elena N. Makareeva
- Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health
- Andreas R. Janecke
- Division of Human Genetics, Medical University of Innsbruck
- Sergey Leikin
- Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health
- Benno Röthlisberger
- Department of Medical Genetics, Center for Laboratory Medicine
- Marianne Rohrbach
- Division of Metabolism, Connective Tissue Unit and Children’s Research Center, University Children’s Hospital Zurich
- Ingo Kennerknecht
- Institute of Human Genetics, Westfälische Wilhelms University
- David R. Eyre
- Department of Orthopedics and Sports Medicine, University of Washington
- Kanya Suphapeetiporn
- Department of Pediatrics, Center of Excellence for Medical Genetics, Faculty of Medicine, Chulalongkorn University
- Cecilia Giunta
- Division of Metabolism, Connective Tissue Unit and Children’s Research Center, University Children’s Hospital Zurich
- Joan C. Marini
- Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, National Institutes of Health
- Vorasuk Shotelersuk
- Department of Pediatrics, Center of Excellence for Medical Genetics, Faculty of Medicine, Chulalongkorn University
- DOI
- https://doi.org/10.1038/ncomms11920
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 12
Abstract
Osteogenesis imperfecta (OI) is genetically linked to autosomal dominant or autosomal recessive mutations. Here, Marini et al. describe two families with X-chromosome-linked OI with mutations in MBTPS2 that alter regulated intramembrane proteolysis and subsequent defects in collagen crosslinking and osteoblast function.
