[HTML][HTML] Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva

T Fukuda, M Kohda, K Kanomata, J Nojima… - Journal of Biological …, 2009 - ASBMB
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder
characterized by congenital malformation of the great toes and by progressive heterotopic
bone formation in muscle tissue. Recently, a mutation involving a single amino acid
substitution in a bone morphogenetic protein (BMP) type I receptor, ALK2, was identified in
patients with FOP. We report here that the identical mutation, R206H, was observed in 19
Japanese patients with sporadic FOP. This mutant receptor, ALK2 (R206H), activates BMP …