Clusterin, other extracellular chaperones, and eye disease

MR Wilson, S Satapathy, S Jeong, ME Fini - Progress in Retinal and eye …, 2022 - Elsevier
Proteostasis refers to all the processes that maintain the correct expression level, location,
folding and turnover of proteins, essential to organismal survival. Both inside cells and in …

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 …

Classic lattice corneal dystrophy: a brief review and summary of treatment modalities

E Milovanova, S Gomon, G Rocha - Graefe's Archive for Clinical and …, 2024 - Springer
Purpose To provide a brief summary and comparison of the most recent literature on
available and theorized treatment modalities for classic lattice corneal dystrophy (LCD). This …

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 …

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 …

Review of proteomics approach to eye diseases affecting the anterior segment

H Aghamollaei, S Parvin, A Shahriary - Journal of proteomics, 2020 - Elsevier
Visual impairment and blindness is a major health burden worldwide, and major ocular
diseases causing visual impairment pertain to the anterior segment of the eye. Anterior …

Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2

I Jun, YW Ji, S Choi, BR Lee, JS Min, EK Kim - Scientific reports, 2021 - nature.com
We investigated the clinical and genetic features of patients with severe phenotype of
granular corneal dystrophy type 2 (GCD2) associated with compound heterozygosity in the …

LASIK surgery of granular corneal dystrophy type 2 patients leads to accumulation and differential proteolytic processing of transforming growth factor beta‐induced …

ET Poulsen, NS Nielsen, MM Jensen, E Nielsen… - …, 2016 - Wiley Online Library
More than 60 mutations in transforming growth factor beta‐induced protein (TGFBIp) have
been reported in humans causing a variety of phenotypic protein aggregates in the cornea …

Effect of position-specific single-point mutations and biophysical characterization of amyloidogenic peptide fragments identified from lattice corneal dystrophy patients

V Anandalakshmi, E Murugan, EGT Leng… - Biochemical …, 2017 - portlandpress.com
Corneal stromal dystrophies are a group of genetic disorders that may be caused by
mutations in the transforming growth factor β-induced (TGFBI) gene which results in the …

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 …