[HTML][HTML] Domain-specific mutations of a transforming growth factor (TGF)-β1 latency-associated peptide cause Camurati-Engelmann disease because of the formation …
T Saito, A Kinoshita, K Yoshiura, Y Makita… - Journal of Biological …, 2001 - ASBMB
Transforming growth factor (TGF)-β1 is secreted as a latent form, which consists of its mature
form and a latency-associated peptide (β1-LAP) in either the presence or the absence of
additional latent TGF-β1-binding protein. We recently reported that three different missense
mutations (R218H, R218C, and C225R) of β1-LAP cause the Camurati-Engelmann disease
(CED), an autosomal dominant disorder characterized by hyperosteosis and sclerosis of the
diaphysis of the long bones. Pulse-chase experiments using fibroblasts from CED patients …
form and a latency-associated peptide (β1-LAP) in either the presence or the absence of
additional latent TGF-β1-binding protein. We recently reported that three different missense
mutations (R218H, R218C, and C225R) of β1-LAP cause the Camurati-Engelmann disease
(CED), an autosomal dominant disorder characterized by hyperosteosis and sclerosis of the
diaphysis of the long bones. Pulse-chase experiments using fibroblasts from CED patients …