Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy

Author:

Courtney David G.1,Toftgaard Poulsen Ebbe2,Kennedy Susan3,Moore Johnny E.4,Atkinson Sarah D.5,Maurizi Eleonora5,Nesbit M. Andrew5,Moore C. B. Tara5,Enghild Jan J.2

Affiliation:

1. School of Biomedical Sciences, Centre for Molecular Biosciences (CMB), University of Ulster, Coleraine, Northern Ireland, United Kingdom 2Department of Molecular Biology and Genetics, Science Park, Aarhus University, Aarhus, Denmark

2. Department of Molecular Biology and Genetics, Science Park, Aarhus University, Aarhus, Denmark 3Interdisciplinary Nanoscience Center (iNANO) and Center for Insoluble Protein Structures (inSPIN), Aarhus University, Aarhus, Denmark

3. Department of Histopathology, Royal Victoria Eye and Ear Hospital, Dublin 2, Ireland

4. School of Biomedical Sciences, Centre for Molecular Biosciences (CMB), University of Ulster, Coleraine, Northern Ireland, United Kingdom 5Cathedral Eye Clinic, Belfast, Northern Ireland, United Kingdom

5. School of Biomedical Sciences, Centre for Molecular Biosciences (CMB), University of Ulster, Coleraine, Northern Ireland, United Kingdom

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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1. Classic lattice corneal dystrophy: a brief review and summary of treatment modalities;Graefe's Archive for Clinical and Experimental Ophthalmology;2023-11-07

2. Analysis of a Homozygous TGFBI Variant in a Pakistani Family with Granular Corneal Dystrophy Type 2: Implications for Genotype-Phenotype Correlation and Inheritance Patterns;2023-03-27

3. Mutation effects on FAS1 domain 4 based on structure and solubility;Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics;2022-03

4. Gene editing for the cornea;CRISPR Genome Surgery in Stem Cells and Disease Tissues;2022

5. Clusterin, other extracellular chaperones, and eye disease;Progress in Retinal and Eye Research;2021-12

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