0961 - a Mutation in Cartilage Oligomeric Matrix Protein (comp) Associated with Pseudoachondroplasia (psach) Alters the Properties of the Type Iii Domain
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چکیده
+*Maddox, B Kerry (A-Shriners Hospital for Children); *Mokashi, A (A-Department of Biochemistry and Molecular Biology, Oregon Health Sciences University, Portland, OR); *Keene, D R. (A-Shriners Hospital for Children); *Bachinger, H Peter (A-Shriners Hospital for Children) +*Shriners Hospital for Children, Portland, OR. Research Department/Shriners Hospital for Children/3101 SW Sam Jackson Pk Rd/Portland, OR 97201, 503-221-3448, Fax: 503-221-3451, [email protected]
منابع مشابه
A Novel Form of Chondrocyte Stress is Triggered by a COMP Mutation Causing Pseudoachondroplasia
Pseudoachondroplasia (PSACH) results from mutations in cartilage oligomeric matrix protein (COMP) and the p.D469del mutation within the type III repeats of COMP accounts for approximately 30% of PSACH. To determine disease mechanisms of PSACH in vivo, we introduced the Comp D469del mutation into the mouse genome. Mutant animals were normal at birth but grew slower than their wild-type littermat...
متن کاملDecreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation
Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). Accurate clinical diagnosis of PSACH is sometimes difficult. Here, we identified a novel COMP mutation (c.1675G>A, p.Glu559Lys) in a Chinese PSACH family. We detected the plasma levels of COMP and type II collagen (CTX-II) in the four a...
متن کاملPseudoachondroplasia/COMP — translating from the bench to the bedside
Pseudoachondroplasia (PSACH) is a skeletal dysplasia characterized by disproportionate short stature, small hands and feet, abnormal joints and early onset osteoarthritis. PSACH is caused by mutations in thrombospondin-5 (TSP-5, also known as cartilage oligomeric matrix protein or COMP), a pentameric extracellular matrix protein primarily expressed in chondrocytes and musculoskeletal tissues. T...
متن کاملCOMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype.
While pseudoachondroplasia (PSACH) is almost exclusively caused by cartilage oligomeric matrix protein (COMP) mutations, many patients identified with the PSACH phenotype do not have this mutation, suggesting gene and locus heterogeneity. In order to further characterize this entity, we studied 32 clinically and radiographically diagnosed PSACH patients, among 19 families. COMP and collagen (Co...
متن کاملA cartilage oligomeric matrix protein mutation associated with pseudoachondroplasia changes the structural and functional properties of the type 3 domain.
Cartilage oligomeric matrix protein (COMP) is a member of the thrombospondin family of extracellular matrix glycoproteins. All members of the family contain a highly conserved region of thrombospondin type 3 sequence repeats that bind calcium. A mutation in COMP previously identified in a patient with pseudoachondroplasia resulted in abnormal sequestration of COMP in distinctive rER vesicles. T...
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تاریخ انتشار 2000