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 …

Genotype-phenotype correlation for TGFBI corneal dystrophies identifies p.(G623D) as a novel cause of epithelial basement membrane dystrophy

CJ Evans, AE Davidson, N Carnt… - … & visual science, 2016 - iovs.arvojournals.org
Purpose: The majority of anterior corneal dystrophies are caused by dominant mutations in
TGFBI (transforming growth factor β-induced) collectively known as the epithelial-stromal …

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 …

Lithium chloride (LiCl) induced autophagy and downregulated expression of transforming growth factor β-induced protein (TGFBI) in granular corneal dystrophy

D Nie, Y Peng, M Li, X Liu, M Zhu, L Ye - Experimental Eye Research, 2018 - Elsevier
This study evaluated whether lithium chloride (LiCl) prevents cytoplasmic accumulation of
mutant-transforming growth factor β-induced protein (Mut-TGFBI) in granular corneal …

The serine protease HtrA1 cleaves misfolded transforming growth factor β–induced protein (TGFBIp) and induces amyloid formation

ET Poulsen, NS Nielsen, C Scavenius… - Journal of Biological …, 2019 - ASBMB
The serine protease high-temperature requirement protein A1 (HtrA1) is associated with
protein-misfolding disorders such as Alzheimer's disease and transforming growth factor β …

Long-term clinical outcomes of phototherapeutic keratectomy in corneas with granular corneal dystrophy type 2 exacerbated after LASIK

I Jun, JW Jung, YJ Choi, T Kim… - Journal of Refractive …, 2018 - journals.healio.com
PURPOSE: To investigate the long-term clinical outcomes and recurrence patterns of
phototherapeutic keratectomy (PTK) in patients with granular corneal dystrophy type 2 …

Matrix‐assisted laser desorption ionization mass spectrometry imaging of key proteins in corneal samples from lattice dystrophy patients with TGFBI‐H626R and …

A Venkatraman, G Hochart, D Bonnel… - PROTEOMICS …, 2019 - Wiley Online Library
Scope The purpose of this study is to identify and visualize the spatial distribution of proteins
present in amyloid corneal deposits of TGFBI‐CD patients using Mass Spectrometry Imaging …

[HTML][HTML] Prevalence of granular corneal dystrophy type 2-related TGFBI p. R124H variant in a South Korean population

JE Park, SA Yun, EY Roh, JH Yoon, S Shin… - Molecular vision, 2021 - ncbi.nlm.nih.gov
Purpose Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant disorder and
is associated with the arginine to histidine substitution at codon 124 (p. R124H) of the TGFBI …

Exacerbation of granular corneal dystrophy type 2 after small incision lenticule extraction

JJ Kwak, SH Yoon, KY Seo, HK Lee, RD Stulting… - Cornea, 2021 - journals.lww.com
Purpose: To report the outcome of unilateral small incision lenticule extraction (SMILE) in a
patient with granular corneal dystrophy type 2 (GCD2). Methods: Slit-lamp photography and …

[HTML][HTML] Pharmaceutical modulation of the proteolytic profile of Transforming Growth Factor Beta induced protein (TGFBIp) offers a new avenue for treatment of TGFBI …

A Venkatraman, MD Duong-Thi, K Pervushin… - Journal of Advanced …, 2020 - Elsevier
Corneal dystrophies are a group of genetically inherited disorders with mutations in the
TGFBI gene affecting the Bowman's membrane and the corneal stroma. The mutant TGFBIp …