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Prospective Application of Activity-Based Proteomic Profiling in Vision Research-Potential Unique Insights into Ocular Protease Biology and Pathology.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 16, p. 3855, doi. 10.3390/ijms20163855
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- Article
A trimethoprim derivative impedes antibiotic resistance evolution.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23191-z
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- Article
Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration.
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- FASEB Journal, 2015, v. 29, n. 2, p. 565, doi. 10.1096/fj.14-255414
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- Article
Translational attenuation differentially alters the fate of disease-associated fibulin proteins.
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- FASEB Journal, 2012, v. 26, n. 11, p. 4548, doi. 10.1096/fj.11-202861
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- Article
A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa.
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- Molecular Vision, 2021, v. 27, p. 179
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- Article
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
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- Molecular Vision, 2016, v. 22, p. 1
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- Article
Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-79570-x
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- Article
Evidence of Alternative Cystatin C Signal Sequence Cleavage Which Is Influenced by the A25T Polymorphism.
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- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0147684
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- Article
The Role of Vimentin in Human Corneal Fibroblast Spreading and Myofibroblast Transformation.
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- Cells (2073-4409), 2024, v. 13, n. 13, p. 1094, doi. 10.3390/cells13131094
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- Article
Deducing the presence of proteins and proteoforms in quantitative proteomics.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04411-5
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- Article
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
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- Human Mutation, 2022, v. 43, n. 12, p. 2170, doi. 10.1002/humu.24482
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- Article
A loss‐of‐function cysteine mutant in fibulin‐3 (EFEMP1) forms aberrant extracellular disulfide‐linked homodimers and alters extracellular matrix composition.
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- Human Mutation, 2022, v. 43, n. 12, p. 1945, doi. 10.1002/humu.24452
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- Article
Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity.
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- Journal of Molecular Medicine, 2020, v. 98, n. 11, p. 1639, doi. 10.1007/s00109-020-01974-z
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- Article
Mechanisms of DJ-1 neuroprotection in a cellular model of Parkinson’s disease.
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- Journal of Neurochemistry, 2008, v. 105, n. 6, p. 2435, doi. 10.1111/j.1471-4159.2008.05333.x
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- Article
Forward genetic screening using fundus spot scale identifies an essential role for Lipe in murine retinal homeostasis.
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- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-04870-7
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- Article
Two C-terminal sequence variations determine differential neurotoxicity between human and mouse α-synuclein.
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- Molecular Neurodegeneration, 2020, v. 15, n. 1, p. N.PAG, doi. 10.1186/s13024-020-00380-w
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- Article