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Page 1
Pathogenesis and treatments of TGFBI corneal dystrophies.
Han KE, Choi SI, Kim TI, Maeng YS, Stulting RD, Ji YW, Kim EK. Han KE, et al. Prog Retin Eye Res. 2016 Jan;50:67-88. doi: 10.1016/j.preteyeres.2015.11.002. Epub 2015 Nov 28. Prog Retin Eye Res. 2016. PMID: 26612778 Review.
We review our current understanding of the molecular mechanisms of granular corneal dystrophy type 2 (GCD2) and studies of other TGFBI corneal dystrophies. In GCD2 corneal fibroblasts, alterations of morphological characteristics of corneal fibroblasts, incre …
We review our current understanding of the molecular mechanisms of granular corneal dystrophy type 2 (GCD2) and studies …
Oxidative Stress, Ocular Disease and Diabetes Retinopathy.
Tangvarasittichai O, Tangvarasittichai S. Tangvarasittichai O, et al. Curr Pharm Des. 2018;24(40):4726-4741. doi: 10.2174/1381612825666190115121531. Curr Pharm Des. 2018. PMID: 30644339 Review.
Significantly higher levels of these products in comparison with the controls were observed. Oxidative stress induced changes to ocular cells and tissues. ...It is involved in ocular diseases, including keratoconus, Fuchs endothelial corneal dystrophy, and granular …
Significantly higher levels of these products in comparison with the controls were observed. Oxidative stress induced changes to ocul …
Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2.
Jun I, Ji YW, Choi SI, Lee BR, Min JS, Kim EK. Jun I, et al. Sci Rep. 2021 Mar 26;11(1):6986. doi: 10.1038/s41598-021-86414-9. Sci Rep. 2021. PMID: 33772078 Free PMC article.
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 transforming growth factor-beta-induced (TGFBI) gene. ...Multiple, extensive discoid …
We investigated the clinical and genetic features of patients with severe phenotype of granular corneal dystrophy type …
Exacerbation of Granular Corneal Dystrophy Type 2 After Small Incision Lenticule Extraction.
Kwak JJ, Yoon SH, Seo KY, Kim TI, Lee HK, Stulting RD, Kim EK. Kwak JJ, et al. Cornea. 2021 Apr;40(4):519-524. doi: 10.1097/ICO.0000000000002655. Cornea. 2021. PMID: 33560675 Free PMC article.
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 Fourier domain optical coherence tomography were used to document the clini …
PURPOSE: To report the outcome of unilateral small incision lenticule extraction (SMILE) in a patient with granular corneal …
The Oskar Fehr Lecture.
Weiss JS. Weiss JS. Klin Monbl Augenheilkd. 2016 Jun;233(6):708-12. doi: 10.1055/s-0042-100735. Epub 2016 Jun 17. Klin Monbl Augenheilkd. 2016. PMID: 27315290 English.
Fehr escaped to Great Britain, where he practiced ophthalmology into his eighties. He was the first to distinguish between granular corneal dystrophy, lattice corneal dystrophy and macular corneal dystrophy. ...The impact of systemic cholesterol metabolism on …
Fehr escaped to Great Britain, where he practiced ophthalmology into his eighties. He was the first to distinguish between granular …
Torin 1 alleviates impairment of TFEB-mediated lysosomal biogenesis and autophagy in TGFBI (p.G623_H626del)-linked Thiel-Behnke corneal dystrophy.
Wang L, Zhao C, Zheng T, Zhang Y, Liu H, Wang X, Tang X, Zhao B, Liu P. Wang L, et al. Autophagy. 2022 Apr;18(4):765-782. doi: 10.1080/15548627.2021.1955469. Epub 2021 Aug 17. Autophagy. 2022. PMID: 34403298 Free PMC article.
Lysosomal dysfunction and downregulation of differential expression protein CTSD (cathepsin D) were observed using LysoTracker Green DND-26 and proteomic analysis, respectively. ...Amelioration of lysosome dysfunction may therefore have therapeutic efficacy in the treatmen …
Lysosomal dysfunction and downregulation of differential expression protein CTSD (cathepsin D) were observed using LysoTracker Green …
Reduced OPA1, Mitochondrial Fragmentation and Increased Susceptibility to Apoptosis in Granular Corneal Dystrophy Type 2 Corneal Fibroblasts.
Choi SI, Lee GH, Woo JH, Jun I, Kim EK. Choi SI, et al. Genes (Basel). 2023 Feb 24;14(3):566. doi: 10.3390/genes14030566. Genes (Basel). 2023. PMID: 36980838 Free PMC article.
The progressive degeneration of granular corneal dystrophy type 2 (GCD2) corneal fibroblasts is associated with altered mitochondrial function, but the underlying mechanisms are incompletely understood. ...A decrease in the mitochondrial biogenesis-related tr …
The progressive degeneration of granular corneal dystrophy type 2 (GCD2) corneal fibroblasts is associated with altered …
Corneal Dystrophy Mutations Drive Pathogenesis by Targeting TGFBIp Stability and Solubility in a Latent Amyloid-forming Domain.
Stenvang M, Schafer NP, Malmos KG, Pérez AW, Niembro O, Sormanni P, Basaiawmoit RV, Christiansen G, Andreasen M, Otzen DE. Stenvang M, et al. J Mol Biol. 2018 Apr 13;430(8):1116-1140. doi: 10.1016/j.jmb.2018.03.001. Epub 2018 Mar 7. J Mol Biol. 2018. PMID: 29524512
Here we elucidate the molecular origins underlying TGFBIp's mutation-induced increase in aggregation propensity through comprehensive biophysical and bioinformatic analyses of mutations associated with every major subtype of TGFBIp-linked CDs including lattice corneal dystrophy ( …
Here we elucidate the molecular origins underlying TGFBIp's mutation-induced increase in aggregation propensity through comprehensive biophy …
Mutation effects on FAS1 domain 4 based on structure and solubility.
Kim D, Chong SH, Shin S, Ham S. Kim D, et al. Biochim Biophys Acta Proteins Proteom. 2022 Mar 1;1870(3):140746. doi: 10.1016/j.bbapap.2021.140746. Epub 2021 Dec 20. Biochim Biophys Acta Proteins Proteom. 2022. PMID: 34942360
Here, we performed molecular dynamics simulations followed by solvation thermodynamic analyses of the FAS1-4 domain and its three mutants-R555W, R555Q, and A546T-linked to granular corneal dystrophy type 1, Thiel-Behnke corneal dystrophy and lattice corneal d …
Here, we performed molecular dynamics simulations followed by solvation thermodynamic analyses of the FAS1-4 domain and its three mutants-R5 …
A unique TGFBI protein in granular corneal dystrophy types 1 and 2.
Han YP, Sim AJ, Vora SC, Huang AJ. Han YP, et al. Curr Eye Res. 2012 Nov;37(11):990-6. doi: 10.3109/02713683.2012.700752. Epub 2012 Jun 29. Curr Eye Res. 2012. PMID: 22746317 Free PMC article.
RESULTS: WT and TGFBIp mutants showed differential reactivities with these antibodies. In contrast to our prior observation in purified WT and TGFBIp mutants, TGFBIp from cell lysates were less prone to polymerize. ...CONCLUSIONS: Monomeric and polymeric WT and TGFBIp muta …
RESULTS: WT and TGFBIp mutants showed differential reactivities with these antibodies. In contrast to our prior observation in purifi …
57 results