Fibrillin-containing microfibrils: structure and function in health and disease.
Fibrillin-containing microfibrils are a unique class of connective tissue macromolecules whose critical contribution to the establishment and maintenance of diverse extracellular matrices was underlined by the recent linkage of their principal structural component fibrillin to Marfan syndrome, a heritable disorder with pleiotrophic connective tissue manifestations. The complexity of the structure: function relationships of these macromolecules was highlighted by the recent elucidation of the primary structure of fibrillin and characterisation of fibrillin mutations in Marfan patients. This review examines current understanding of the expression and assembly of fibrillin and describes new approaches which are now being applied to elucidate the many outstanding structural, organisational and functional aspects of the fibrillin-containing microfibrils.
Kielty
C M
CM
School of Biological Sciences, University of Manchester, U.K.
Shuttleworth
C A
CA
D003238:Connective Tissue / Q000737:chemistry*; D016326:Extracellular Matrix Proteins / Q000032:analysis*; D000071837:Fibrillins; D005838:Genotype; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000032:analysis*; D010641:Phenotype; D012016:Reference Values; D013329:Structure-Activity Relationship
D016326:Extracellular Matrix Proteins; D000071837:Fibrillins; D008840:Microfilament Proteins