| http://purl.uniprot.org/citations/20188343 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20188343 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20188343 | http://www.w3.org/2000/01/rdf-schema#comment | "Osteogenesis imperfecta (OI) is characterized by bone fragility and fractures that may be accompanied by bone deformity, dentinogenesis imperfecta, short stature, and shortened life span. About 90% of individuals with OI have dominant mutations in the type I collagen genes COL1A1 and COL1A2. Recessive forms of OI resulting from mutations in collagen-modifying enzymes and chaperones CRTAP, LEPRE1, PPIB, and FKBP10 have recently been identified. We have identified an autosomal-recessive missense mutation (c.233T>C, p.Leu78Pro) in SERPINH1, which encodes the collagen chaperone-like protein HSP47, that leads to a severe OI phenotype. The mutation results in degradation of the endoplasmic reticulum resident HSP47 via the proteasome. Type I procollagen accumulates in the Golgi of fibroblasts from the affected individual and a population of the secreted type I procollagen is protease sensitive. These findings suggest that HSP47 monitors the integrity of the triple helix of type I procollagen at the ER/cis-Golgi boundary and, when absent, the rate of transit from the ER to the Golgi is increased and helical structure is compromised. The normal 3-hydroxylation of the prolyl residue at position 986 of the triple helical domain of proalpha1(I) chains places the role of HSP47 downstream from the CRTAP/P3H1/CyPB complex that is involved in prolyl 3-hydroxylation. Identification of this mutation in SERPINH1 gives further insight into critical steps of the collagen biosynthetic pathway and the molecular pathogenesis of OI."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2010.01.034"xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2010.01.034"xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Byers P.H."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Byers P.H."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Pepin M.G."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Pepin M.G."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Eyre D.R."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Eyre D.R."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Schwarze U."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Schwarze U."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Alrasheed S."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Alrasheed S."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Pyott S.M."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Pyott S.M."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Weis M.A."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Weis M.A."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Al Balwi M."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Al Balwi M."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Christiansen H.E."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "Christiansen H.E."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "AlSwaid A."xsd:string |
| http://purl.uniprot.org/citations/20188343 | http://purl.uniprot.org/core/author | "AlSwaid A."xsd:string |