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1.
Ocular Amyloid, Condensates, and Aggregates - Higher-Order Protein Assemblies Participate in Both Retinal Degeneration and Function.
Adv Exp Med Biol
; 1415: 263-267, 2023.
Article
in English
| MEDLINE | ID: mdl-37440043
2.
A loss-of-function cysteine mutant in fibulin-3 (EFEMP1) forms aberrant extracellular disulfide-linked homodimers and alters extracellular matrix composition.
Hum Mutat
; 43(12): 1945-1955, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35998264
3.
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Hum Mutat
; 43(12): 2170-2186, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36217948
4.
A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa.
Mol Vis
; 27: 179-190, 2021.
Article
in English
| MEDLINE | ID: mdl-33907372
5.
Small Molecule-Based Inducible Gene Therapies for Retinal Degeneration.
Adv Exp Med Biol
; 1185: 65-69, 2019.
Article
in English
| MEDLINE | ID: mdl-31884590
6.
Prospective Application of Activity-Based Proteomic Profiling in Vision Research-Potential Unique Insights into Ocular Protease Biology and Pathology.
Int J Mol Sci
; 20(16)2019 Aug 08.
Article
in English
| MEDLINE | ID: mdl-31398819
7.
A High-Throughput Assay for Collagen Secretion Suggests an Unanticipated Role for Hsp90 in Collagen Production.
Biochemistry
; 57(19): 2814-2827, 2018 05 15.
Article
in English
| MEDLINE | ID: mdl-29676157
8.
An inducible form of Nrf2 confers enhanced protection against acute oxidative stresses in RPE cells.
Exp Eye Res
; 164: 31-36, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28782506
9.
Unfolded protein response activation reduces secretion and extracellular aggregation of amyloidogenic immunoglobulin light chain.
Proc Natl Acad Sci U S A
; 111(36): 13046-51, 2014 Sep 09.
Article
in English
| MEDLINE | ID: mdl-25157167
10.
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
Mol Vis
; 22: 73-81, 2016.
Article
in English
| MEDLINE | ID: mdl-26900326
11.
Mapping wild-type and R345W fibulin-3 intracellular interactomes.
Exp Eye Res
; 153: 165-169, 2016 Dec.
Article
in English
| MEDLINE | ID: mdl-27777122
12.
Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration.
FASEB J
; 29(2): 565-75, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25389134
13.
Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies.
Adv Exp Med Biol
; 854: 153-8, 2016.
Article
in English
| MEDLINE | ID: mdl-26427406
14.
Differential tolerance of 'pseudo-pathogenic' tryptophan residues in calcium-binding EGF domains of short fibulin proteins.
Exp Eye Res
; 130: 66-72, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25481286
15.
Effect of single amino acid substitution on oxidative modifications of the Parkinson's disease-related protein, DJ-1.
Mol Cell Proteomics
; 11(2): M111.010892, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22104028
16.
Exploring ocular fibulin-3 (EFEMP1): Anatomical, age-related, and species perspectives.
Biochim Biophys Acta Mol Basis Dis
; 1870(6): 167239, 2024 May 14.
Article
in English
| MEDLINE | ID: mdl-38750770
17.
Protocol for HiBiT tagging endogenous proteins using CRISPR-Cas9 gene editing.
STAR Protoc
; 5(2): 103000, 2024 Apr 09.
Article
in English
| MEDLINE | ID: mdl-38598333
18.
E3 ubiquitin ligase Herc3 deficiency leads to accumulation of subretinal microglia and retinal neurodegeneration.
Sci Rep
; 14(1): 3010, 2024 02 06.
Article
in English
| MEDLINE | ID: mdl-38321224
19.
Translational attenuation differentially alters the fate of disease-associated fibulin proteins.
FASEB J
; 26(11): 4548-60, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22872678
20.
GSK3 inhibition reduces ECM production and prevents age-related macular degeneration-like pathology.
bioRxiv
; 2023 Dec 15.
Article
in English
| MEDLINE | ID: mdl-38168310