Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments

Human Genetics

Volumn 107, Issue 3, 2000, Pages 216-224

  Booms, P ^a   Tiecke, F ^a   Rosenberg, T ^b   Hagemeier, C ^a   Robinson, P N ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CYSTEINE; FIBRILLIN; TRYPSIN;

ADULT; ARTICLE; CALCIUM BINDING; CASE REPORT; GENE; GENE MUTATION; GENOTYPE; HUMAN; IN VITRO STUDY; MALE; MARFAN SYNDROME; MISSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION;

ADOLESCENT; CALCIUM; CASE REPORT; ECTOPIA LENTIS; ENDOPEPTIDASES; FEMALE; HUMAN; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGE; MODELS, MOLECULAR; MUTATION; PEPTIDE FRAGMENTS; RECOMBINANT PROTEINS; SUPPORT, NON-U.S. GOV'T;

EID: 0033780943     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000368     Document Type: Article

References (45)

1. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms
2. Fibrillin degradation by matrix metalloproteinases: Implications for connective tissue remodelling
3. Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome
4. Metal ion dependency of microfibrils supports a rod-like conformation for fibrillin-1 calcium-binding epidermal growth factor-like domains
5. Marfan database (third edition): New mutations and new routines for the software
6. 2+ binding of latent transforming growth factor-β1 binding protein
7. Expression and localization of macrophage elastase (matrix metalloproteinase-12) in abdominal aortic aneurysms
8. Pharmacologic suppression of experimental abdominal aortic aneurysms: A comparison of doxycycline and four chemically modified tetracyclines
9. Revised diagnostic criteria for the Marfan syndrome
10. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
11. Solution structure of a pair of calcium-binding epidermal growth factor-like domains: Implications for the Marfan syndrome and other genetic disorders
12. A Gly 1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection
13. Marfan syndrome
14. Site-directed mutagenesis using a uracil-containing phagemid template
15. Key residues involved in calcium-binding motifs in EGF-like domains
16. The calcium binding properties and molecular organization of epidermal growth factor-like domains in human fibrillin-1
17. Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
18. Regulation of chondrocyte gene expression
19. Fibrillin degradation by matrix metalloproteinases: Identification of amino- and carboxy-terminal cleavage sites
20. Potential regulation of cartilage metabolism in osteoarthritis by fibronectin fragments
21. Recombinant latent transforming growth factor β-binding protein 2 assembles to fibroblast extracellular matrix and is susceptible to proteolytic processing and release
22. The role of calcium in the organization of fibrillin microfibrils
23. Catabolism of intact fibrillin microfibrils by neutrophil elastase, chymotrypsin and trypsin
24. Extracellular calcium-binding proteins
25. Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation
26. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome
27. Targeting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome
28. Pathogenetic sequence for aneurysm revealed in mice underex-pressing fibrillin-1
29. The Marfan syndrome
30. Marfan syndrome: New clues to genotype-phenotype correlations
31. Calcium determines the shape of fibrillin
32. Calcium stabilizes fibrillin-1 against proteolytic degradation
33. The spectrum of cardiovascular disease in the Marfan syndrome: A clinico-morphologic study of 18 necropsy patients and comparison to 151 previously reported necropsy patients
34. The molecular genetics of Marfan syndrome and related microfibrillopathies
35. Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene
36. Different susceptibilities of fibulin-1 and fibulin-2 to cleavage by matrix metalloproteinases and other tissue proteases
37. Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: Distinct effects on biochemical and clinical phenotypes
38. Immunohistochemistry of matrix metalloproteinases and their inhibitors in thoracic aortic aneurysms and aortic valves of patients with Marfan's syndrome
39. 2-terminal EGF-like domain in coagulation factor X
40. β-Hydroxyasparagine in domains homologous to the epidermal growth factor precursor in vitamin K-dependent protein S
41. Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis
42. Mutation screening of complete fibrillin-1 coding sequence: Report of five new mutations, including two in 8-cysteine domains
43. Three novel fibrillin mutations in exons 25 and 27: Classic versus neonatal Marfan syndrome
44. A consensus model for molecular packing of type I collagen
45. A Gly →Ser change causes defective folding in vitro of calcium-binding epidermal growth factor-like domains from factor IX and fibrillin-1