C-terminal propeptide is required for fibrillin-1 secretion and blocks premature assembly through linkage to domains cbEGF41-43

Early Fibrillin-1 Assembly Monitored through a Modifiable Recombinant Cell Approach

(2014) Dirk Hubmacher et al.   BIOMACROMOLECULES

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3′ end of FBN1 gene

(2014) Adeline Jacquinet et al.   European Journal of Medical Genetics

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon ofFBN1causing a recognizable phenotype

(2013) Toshiki Takenouchi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Structure of the Fibrillin-1 N-Terminal Domains Suggests that Heparan Sulfate Regulates the Early Stages of Microfibril Assembly

(2013) David A. Yadin et al.   STRUCTURE

Structural basis of fibrillar collagen trimerization and related genetic disorders

(2012) Jean-Marie Bourhis et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The Evolution of Extracellular Fibrillins and Their Functional Domains

(2012) Adam Piha-Gossack et al.   PLoS One

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene

(2011) Denise Horn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3′ end of the FBN1 gene

(2011) Jack Goldblatt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TB domain proteins: evolutionary insights into the multifaceted roles of fibrillins and LTBPs

(2010) Ian Robertson et al.   BIOCHEMICAL JOURNAL

In VivoStudies of Mutant Fibrillin-1 Microfibrils

(2010) Noe L. Charbonneau et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Biophysical Characterisation of Fibulin-5 Proteins Associated with Disease

(2010) Ralf Schneider et al.   JOURNAL OF MOLECULAR BIOLOGY

Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

(2010) B. L. Loeys et al.   Science Translational Medicine

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

(2009) Chantal Stheneur et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Heparan Sulfate Regulates Fibrillin-1 N- and C-terminal Interactions

(2008) Stuart A. Cain et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Fibrillin Assembly Requires Fibronectin

(2008) Laetitia Sabatier et al.   MOLECULAR BIOLOGY OF THE CELL

Analysis of Uromodulin Polymerization Provides New Insights into the Mechanisms Regulating ZP Domain-mediated Protein Assembly

(2008) Céline Schaeffer et al.   MOLECULAR BIOLOGY OF THE CELL

Biogenesis of extracellular microfibrils: Multimerization of the fibrillin-1 C terminus into bead-like structures enables self-assembly

(2008) D. Hubmacher et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA