Article
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
The New England journal of medicine - 28 Dec 2006
Barnes Aileen M, Chang Weizhong, Morello Roy, Cabral Wayne A, Weis MaryAnn, Eyre David R, Leikin Sergey, Makareeva Elena, Kuznetsova Natalia, Uveges Thomas E, Ashok Aarthi, Flor Armando W, Mulvihill John J, Wilson Patrick L, Sundaram Usha T, Lee Brendan, Marini Joan C
Abstract excerpt
Classic osteogenesis imperfecta, an autosomal dominant disorder associated with osteoporosis and bone fragility, is caused by mutations in the genes for type I collagen. A recessive form of the disorder has long been suspected. Since the loss of cartilage-associated protein (CRTAP), which is required for post-translational prolyl 3-hydroxylation of collagen, causes severe osteoporosis in mice, we investigated...
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