Fibrillins: From Biogenesis of Microfibrils to Signaling Functions

Dirk Hubmacher, Kerstin Tiedemann, Dieter P. Reinhardt

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

100 Scopus citations

Abstract

Fibrillins are large proteins that form extracellular microfibril suprastructures ubiquitously found in elastic and nonelastic tissues. Mutations in fibrillin-1 and -2 lead to a number of heritable connective tissue disorders generally termed fibrillinopathies. Clinical symptoms in fibrillinopathies manifest in the skeletal, ocular, and cardiovascular systems and highlight the importance of fibrillins in development and homeostasis of tissues and organs, including blood vessels, bone, and eye. Microfibrils appear to have dual roles in (1) conferring mechanical stability and limited elasticity to tissues, and (2) modulating the activity of growth factors of the transforming growth factor beta (TGF-β) superfamily. This chapter's focus is on the biogenesis of microfibrils, developmental expression patterns of fibrillins, signaling functions of microfibrils, and mouse models deficient in fibrillins.

Original languageEnglish
Title of host publicationCurrent Topics in Developmental Biology
EditorsGerald Schatten
Pages93-123
Number of pages31
DOIs
StatePublished - 2006
Externally publishedYes

Publication series

NameCurrent Topics in Developmental Biology
Volume75
ISSN (Print)0070-2153

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