Associated Papers
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Sorsby Fundus Dystrophy in an Asian Pedigree: Pathogenic Timp3 P.Y191c Variant Impairs Its Binding with Mmp2/9 and Cellular Localization.
Li M et al.
Clinical Ophthalmology (auckland, N.z.), 2025
Human iPSC-based disease modeling studies identify a common mechanistic defect and potential therapies for AMD and related macular dystrophies.
Dalvi S et al.
Developmental Cell, 2024
Tissue Inhibitor of Metalloproteinase 3 (TIMP3) mutations increase glycolytic activity and dysregulate glutamine metabolism in RPE cells.
Grenell A et al.
Molecular Metabolism, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.
Vergaro A et al.
International Journal of Molecular Sciences, 2024
Review: Mechanisms of TIMP-3 accumulation and pathogenesis in Sorsby fundus dystrophy.
Betts JHJ et al.
Molecular Vision, 2024
Cells Special Issue: "The Molecular and Cellular Basis of Retinal Diseases".
Pittler SJ et al.
Cells, 2023
Deglycosylation Increases the Aggregation and Angiogenic Properties of Mutant Tissue Inhibitor of Metalloproteinase 3 Protein: Implications for Sorsby Fundus Dystrophy.
Qi JH et al.
International Journal of Molecular Sciences, 2022
Extracellular matrix dysfunction in Sorsby patient-derived retinal pigment epithelium.
Engel AL et al.
Experimental Eye Research, 2022
In vitro stem cell modelling demonstrates a proof-of-concept for excess functional mutant TIMP3 as the cause of Sorsby fundus dystrophy.
Hongisto H et al.
The Journal of Pathology, 2020
A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype.
DeBenedictis MJ et al.
Ophthalmic Genetics, 2020
The retinal pigment epithelium in Sorsby Fundus Dystrophy shows increased sensitivity to oxidative stress-induced degeneration.
Wolk A et al.
Redox Biology, 2020
Role of FGF and Hyaluronan in Choroidal Neovascularization in Sorsby Fundus Dystrophy.
Wolk A et al.
Cells, 2020
Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism.
Qi JH et al.
Scientific Reports, 2019
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
Naessens S et al.
Human Mutation, 2019
Sorsby fundus dystrophy: Insights from the past and looking to the future.
Anand-Apte B et al.
Journal of Neuroscience Research, 2019
Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.
Gliem M et al.
Investigative Ophthalmology & Visual Science, 2015