Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.

@article{Lindert2015MolecularCO,
  title={Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.},
  author={Uschi Lindert and Mary Ann Weis and Jyoti Rai and Frank Seeliger and Ingrid Hausser and Tosso Leeb and David R Eyre and Marianne Rohrbach and Cecilia Giunta},
  journal={The Journal of biological chemistry},
  year={2015},
  volume={290 29},
  pages={17679-89}
}
Osteogenesis imperfecta (OI) is a heritable connective tissue disease characterized by bone fragility and increased risk of fractures. Up to now, mutations in at least 18 genes have been associated with dominant and recessive forms of OI that affect the production or post-translational processing of procollagen or alter bone homeostasis. Among those, SERPINH1 encoding heat shock protein 47 (HSP47), a chaperone exclusive for collagen folding in the ER, was identified to cause a severe form of OI… CONTINUE READING
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