Article
Early Events in the Amyloid Formation of the A546T Mutant of Transforming Growth Factor β-Induced Protein in Corneal Dystrophies Compared to the Nonfibrillating R555W and R555Q Mutants.
Biochemistry - 15 Sept 2015
Koldsø Heidi, Andersen Ole Juul, Nikolajsen Camilla Lund, Scavenius Carsten, Sørensen Charlotte S, Underhaug Jarl, Runager Kasper, Nielsen Niels Chr, Enghild Jan J, Schiøtt Birgit
Abstract excerpt
The human transforming growth factor β-induced protein (TGFBIp) is involved in several types of corneal dystrophies where protein aggregation and amyloid fibril formation severely impair vision. Most disease-causing mutations are located in the last of four homologous fasciclin-1 (FAS1) domains of the protein, and it has been shown that when isolated, the fourth FAS1 domain (FAS1-4) mimics the behavior of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.