Ontology highlight
ABSTRACT:
SUBMITTER: Murugan E
PROVIDER: S-EPMC4814907 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
Murugan Elavazhagan E Venkatraman Anandalakshmi A Lei Zhou Z Mouvet Victoria V Rui Yi Lim Rayne R Muruganantham Nandhakumar N Goh Eunice E Swee Lim Peh Gary G Beuerman Roger W RW Chaurasia Shyam S SS Rajamani Lakshminarayanan L Mehta Jodhbir S JS
Scientific reports 20160331
Most stromal corneal dystrophies are associated with aggregation and deposition of the mutated transforming growth factor-β induced protein (TGFβIp). The 4(th)_FAS1 domain of TGFβIp harbors ~80% of the mutations that forms amyloidogenic and non-amyloidogenic aggregates. To understand the mechanism of aggregation and the differences between the amyloidogenic and non-amyloidogenic phenotypes, we expressed the 4(th)_FAS1 domains of TGFβIp carrying the mutations R555W (non-amyloidogenic) and H572R ( ...[more]