120 related articles for article (PubMed ID: 27777122)
1. Mapping wild-type and R345W fibulin-3 intracellular interactomes.
Hulleman JD; Genereux JC; Nguyen A
Exp Eye Res; 2016 Dec; 153():165-169. PubMed ID: 27777122
[TBL] [Abstract][Full Text] [Related]
2. Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration.
Hulleman JD; Kelly JW
FASEB J; 2015 Feb; 29(2):565-75. PubMed ID: 25389134
[TBL] [Abstract][Full Text] [Related]
3. Differential tolerance of 'pseudo-pathogenic' tryptophan residues in calcium-binding EGF domains of short fibulin proteins.
Nguyen A; Hulleman JD
Exp Eye Res; 2015 Jan; 130():66-72. PubMed ID: 25481286
[TBL] [Abstract][Full Text] [Related]
4. Aberrant accumulation of fibulin-3 in the endoplasmic reticulum leads to activation of the unfolded protein response and VEGF expression.
Roybal CN; Marmorstein LY; Vander Jagt DL; Abcouwer SF
Invest Ophthalmol Vis Sci; 2005 Nov; 46(11):3973-9. PubMed ID: 16249470
[TBL] [Abstract][Full Text] [Related]
5. Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies.
Hulleman JD
Adv Exp Med Biol; 2016; 854():153-8. PubMed ID: 26427406
[TBL] [Abstract][Full Text] [Related]
6. Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity.
Daniel S; Renwick M; Chau VQ; Datta S; Maddineni P; Zode G; Wade EM; Robertson SP; Petroll WM; Hulleman JD
J Mol Med (Berl); 2020 Nov; 98(11):1639-1656. PubMed ID: 32964303
[TBL] [Abstract][Full Text] [Related]
7. Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization.
Woodard DR; Nakahara E; Hulleman JD
Sci Rep; 2021 Feb; 11(1):2998. PubMed ID: 33542268
[TBL] [Abstract][Full Text] [Related]
8. The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.
Fu L; Garland D; Yang Z; Shukla D; Rajendran A; Pearson E; Stone EM; Zhang K; Pierce EA
Hum Mol Genet; 2007 Oct; 16(20):2411-22. PubMed ID: 17666404
[TBL] [Abstract][Full Text] [Related]
9. A high-throughput cell-based Gaussia luciferase reporter assay for identifying modulators of fibulin-3 secretion.
Hulleman JD; Brown SJ; Rosen H; Kelly JW
J Biomol Screen; 2013 Jul; 18(6):647-58. PubMed ID: 23230284
[TBL] [Abstract][Full Text] [Related]
10. Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.
Michaelides M; Jenkins SA; Brantley MA; Andrews RM; Waseem N; Luong V; Gregory-Evans K; Bhattacharya SS; Fitzke FW; Webster AR
Invest Ophthalmol Vis Sci; 2006 Jul; 47(7):3085-97. PubMed ID: 16799055
[TBL] [Abstract][Full Text] [Related]
11. Malattia Leventinese: EFEMP1 R345W Variant Is a Hot Spot Mutation, Not a Founder Mutation.
Vaclavik V; Tran HV; Schorderet Md PhD DF
Ophthalmol Retina; 2020 Oct; 4(10):1023. PubMed ID: 33019987
[No Abstract] [Full Text] [Related]
12. Translational attenuation differentially alters the fate of disease-associated fibulin proteins.
Hulleman JD; Balch WE; Kelly JW
FASEB J; 2012 Nov; 26(11):4548-60. PubMed ID: 22872678
[TBL] [Abstract][Full Text] [Related]
13. GSK3 inhibition reduces ECM production and prevents age-related macular degeneration-like pathology.
DiCesare SM; Ortega AJ; Collier GE; Daniel S; Thompson KN; McCoy MK; Posner BA; Hulleman JD
bioRxiv; 2023 Dec; ():. PubMed ID: 38168310
[TBL] [Abstract][Full Text] [Related]
14. Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration.
Hulleman JD; Kaushal S; Balch WE; Kelly JW
Mol Biol Cell; 2011 Dec; 22(24):4765-75. PubMed ID: 22031286
[TBL] [Abstract][Full Text] [Related]
15. SEMA4A mutations lead to susceptibility to light irradiation, oxidative stress, and ER stress in retinal pigment epithelial cells.
Tsuruma K; Nishimura Y; Kishi S; Shimazawa M; Tanaka T; Hara H
Invest Ophthalmol Vis Sci; 2012 Sep; 53(10):6729-37. PubMed ID: 22956603
[TBL] [Abstract][Full Text] [Related]
16. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
Stone EM; Lotery AJ; Munier FL; Héon E; Piguet B; Guymer RH; Vandenburgh K; Cousin P; Nishimura D; Swiderski RE; Silvestri G; Mackey DA; Hageman GS; Bird AC; Sheffield VC; Schorderet DF
Nat Genet; 1999 Jun; 22(2):199-202. PubMed ID: 10369267
[TBL] [Abstract][Full Text] [Related]
17. Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.
Hu Q; Loeys BL; Coucke PJ; De Paepe A; Mecham RP; Choi J; Davis EC; Urban Z
Hum Mol Genet; 2006 Dec; 15(23):3379-86. PubMed ID: 17035250
[TBL] [Abstract][Full Text] [Related]
18. Expression of R345W-Fibulin-3 Induces Epithelial-Mesenchymal Transition in Retinal Pigment Epithelial Cells.
Zhou M; Weber SR; Zhao Y; Chen H; Barber AJ; Grillo SL; Wills CA; Wang HG; Hulleman JD; Sundstrom JM
Front Cell Dev Biol; 2020; 8():469. PubMed ID: 32637411
[TBL] [Abstract][Full Text] [Related]
19. First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia.
Sheyanth IN; Lolas IB; Okkels H; Kiruparajan LP; Abildgaard SK; Petersen MB
Mol Genet Genomic Med; 2021 Apr; 9(4):e1652. PubMed ID: 33689237
[TBL] [Abstract][Full Text] [Related]
20. EFEMP1 is not associated with sporadic early onset drusen.
Sauer CG; White K; Kellner U; Rudolph G; Jurklies B; Pauleikhoff D; Weber BH
Ophthalmic Genet; 2001 Mar; 22(1):27-34. PubMed ID: 11262647
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]