[HTML][HTML] Molecular consequences of the SERPINH1/HSP47 mutation in the dachshund natural model of osteogenesis imperfecta
U Lindert, MA Weis, J Rai, F Seeliger, I Hausser… - Journal of Biological …, 2015 - ASBMB
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 in dachshunds (L326P) as well as in humans …
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 in dachshunds (L326P) as well as in humans …
