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ProteomicsProtein accumulation post-LASIK surgery in granular corneal dystrophy type II patients involves altered proteolytic processing of transforming growth factor beta-induced protein (TGFBIp)
his study present the protein profile of diseased cornea from granular corneal dystrophy patients developing protein accumulation after LASIK surgery. Extracted ion chromatography (XIC) label free quantification was perform using Mascot Distiller software. In addition, 2D-PAGE followed by western bl...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2016-10-04 | MSV000080219 | MassIVE
ProteomicsProtein composition of TGFBI-R124C and TGFBI-R555W associated aggregates suggests multiple mechanisms leading to Lattice and Granular corneal dystrophy
Transforming Growth Factor Beta-induced (TGFBI)-related dystrophies constitute the most common heritable forms of corneal dystrophy worldwide. However, other than the underlying genotypes of these conditions, a limited knowledge exists of the exact pathomechanisms of these disorders. This study expa...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2016-07-22 | MSV000079985 | MassIVE
ProteomicsProtein composition of TGFBI-R124C and TGFBI-R555W associated aggregates suggests multiple mechanisms leading to Lattice and Granular corneal dystrophy
Transforming Growth Factor Beta-induced (TGFBI)-related dystrophies constitute the most common heritable forms of corneal dystrophy worldwide. However, other than the underlying genotypes of these conditions, a limited knowledge exists of the exact pathomechanisms of these disorders. This study expa...
ORGANISM(S): Homo sapiens (Human) 
2015-11-18 | PXD002236 | Pride
Granular corneal dystrophy Lattice corneal dystrophy Human cornea 
ProteomicsProtein accumulation post-LASIK surgery in granular corneal dystrophy type II patients involves altered proteolytic processing of transforming growth factor beta-induced protein (TGFBIp)
his study present the protein profile of diseased cornea from granular corneal dystrophy patients developing protein accumulation after LASIK surgery. Extracted ion chromatography (XIC) label free quantification was perform using Mascot Distiller software. In addition, 2D-PAGE followed by western bl...
ORGANISM(S): Homo sapiens (Human) 
2016-02-19 | PXD001997 | Pride
Cornea Tripletof 5600+ Xic quantification 2d-page Granular corneal dystrophy 
UnknownReduced OPA1, Mitochondrial Fragmentation and Increased Susceptibility to Apoptosis in Granular Corneal Dystrophy Type 2 Corneal Fibroblasts.
Not available
S-EPMC10048436 | biostudies-literature
ProteomicsThe structures of R124H and R555W TGFBIp suggest a direct role of the mutated residues in the aggregation of TGFBIp in granular corneal dystrophy
Protein aggregation in the outermost layers of the cornea, leading to cloudy vision and in severe cases blindness, is linked to mutations in the extracellular matrix protein, transforming growth factor-β-induced protein (TGFBIp). Among the most frequent disease-causing mutations are R124H and R555W,...
ORGANISM(S): Homo sapiens (Human) 
2021-09-08 | PXD022976 | Pride
Tgfbip X‐ray crystallography Extracellular matrix protein Lattice corneal dystrophy Granular corneal dystrophy Protein cross‐linking Tgfbi Protein aggregation 
UnknownLysosomal dysfunction of corneal fibroblasts underlies the pathogenesis of Granular Corneal Dystrophy Type 2 and can be rescued by TFEB.
Not available
S-EPMC7521267 | biostudies-literature
UnknownCompound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2.
Not available
S-EPMC7997986 | biostudies-literature
UnknownDecreased catalase expression and increased susceptibility to oxidative stress in primary cultured corneal fibroblasts from patients with granular corneal dystrophy type II.
Not available
S-EPMC2708811 | biostudies-literature
UnknownGenome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosome 3q26.3.
Not available
S-EPMC3158498 | biostudies-literature
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