Pathogenesis and treatments of TGFBI corneal dystrophies

KE Han, S Choi, YS Maeng, RD Stulting, YW Ji… - Progress in retinal and …, 2016 - Elsevier
Transforming growth factor beta-induced (TGFBI) corneal dystrophies are a group of
inherited progressive corneal diseases. Accumulation of transforming growth factor beta …

Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies

NS Nielsen, ET Poulsen, MV Lukassen… - Progress in Retinal and …, 2020 - Elsevier
Transforming growth factor-β-induced protein (TGFBIp), an extracellular matrix protein, is the
second most abundant protein in the corneal stroma. In this review, we summarize the …

Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-β signaling

U Friedrich, S Datta, T Schubert, K Plössl… - Human molecular …, 2015 - academic.oup.com
High-temperature requirement A1 (HTRA1) is a secreted serine protease reported to play a
role in the development of several cancers and neurodegenerative diseases. Still, the …

Clusterin in the eye: an old dog with new tricks at the ocular surface

ME Fini, A Bauskar, S Jeong, MR Wilson - Experimental eye research, 2016 - Elsevier
The multifunctional protein clusterin (CLU) was first described in 1983 as a secreted
glycoprotein present in ram rete testis fluid that enhanced aggregation ('clustering') of a …

Proteomic profiling of TGFBI‐null mouse corneas reveals only minor changes in matrix composition supportive of TGFBI knockdown as therapy against TGFBI …

ET Poulsen, K Runager, NS Nielsen… - The FEBS …, 2018 - Wiley Online Library
TGFBI p is a constituent of the extracellular matrix in many human tissues including the
cornea, where it is one of the most abundant proteins expressed. TGFBI p interacts with …

Structural and functional implications of human transforming growth factor β-induced protein, TGFBIp, in corneal dystrophies

R García-Castellanos, NS Nielsen, K Runager… - Structure, 2017 - cell.com
A major cause of visual impairment, corneal dystrophies result from accumulation of protein
deposits in the cornea. One of the proteins involved is transforming growth factor β-induced …

Conservation of the amyloid interactome across diverse fibrillar structures

DW Juhl, MW Risør, C Scavenius, CB Rasmussen… - Scientific Reports, 2019 - nature.com
Several human proteins cause disease by misfolding and aggregating into amyloid fibril
deposits affecting the surrounding tissues. Multiple other proteins co-associate with the …

[HTML][HTML] Protein composition of TGFBI-R124C-and TGFBI-R555W-associated aggregates suggests multiple mechanisms leading to lattice and granular corneal …

DG Courtney, ET Poulsen, S Kennedy… - … & visual science, 2015 - arvojournals.org
Purpose: Transforming growth factor beta-induced (TGFBI)–related dystrophies constitute
the most common heritable forms of corneal dystrophy worldwide. However, other than the …

Proteomic Analysis of Amyloid Corneal Aggregates from TGFBI-H626R Lattice Corneal Dystrophy Patient Implicates Serine-Protease HTRA1 in Mutation-Specific …

A Venkatraman, B Dutta, E Murugan… - Journal of Proteome …, 2017 - ACS Publications
TGFBI-associated corneal dystrophies are inherited disorders caused by TGFBI gene
variants that promote deposition of mutant protein (TGFBIp) as insoluble aggregates in the …

Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene

ET Poulsen, K Runager, MW Risør… - PROTEOMICS …, 2014 - Wiley Online Library
Purpose In this study, we investigated whether the phenotypic difference observed between
two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D …