Detalhe da pesquisa
1.
Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.
Proc Natl Acad Sci U S A
; 119(49): e2208707119, 2022 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36445968
2.
Emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa.
Expert Opin Emerg Drugs
; 27(4): 431-443, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36562395
3.
HIF-1α stabilization reduces retinal degeneration in a mouse model of retinitis pigmentosa.
FASEB J
; 32(5): 2438-2451, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29295858
4.
Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa.
Mol Ther
; 25(8): 1854-1865, 2017 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28549772
5.
Response: 'letter to the editor: emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa'.
Expert Opin Emerg Drugs
; 27(4): 449-450, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36562394
6.
Infliximab reduces Zaprinast-induced retinal degeneration in cultures of porcine retina.
J Neuroinflammation
; 11: 172, 2014 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25301432
7.
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping.
Ophthalmic Genet
; 45(2): 210-217, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38273808
8.
Phosphodiesterase inhibition induces retinal degeneration, oxidative stress and inflammation in cone-enriched cultures of porcine retina.
Exp Eye Res
; 111: 122-33, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23578797
9.
Is RPGR-related retinal dystrophy associated with systemic disease? A case series.
Ophthalmic Genet
; 44(6): 577-584, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36602268
10.
Developmental Expression of the Cell Cycle Regulator p16INK4a in Retinal Glial Cells: A Novel Marker for Immature Ocular Astrocytes?
J Histochem Cytochem
; 71(6): 301-320, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37350564
11.
Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center.
Biomolecules
; 13(10)2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37892166
12.
Accurate Quantification of AAV Vector Genomes by Quantitative PCR.
Genes (Basel)
; 12(4)2021 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33921790
13.
Characterizing the cellular immune response to subretinal AAV gene therapy in the murine retina.
Mol Ther Methods Clin Dev
; 22: 52-65, 2021 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34485594
14.
Mirtron-mediated RNA knockdown/replacement therapy for the treatment of dominant retinitis pigmentosa.
Nat Commun
; 12(1): 4934, 2021 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400638
15.
RPGR gene therapy presents challenges in cloning the coding sequence.
Expert Opin Biol Ther
; 20(1): 63-71, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31612744
16.
Inclusion of PF68 Surfactant Improves Stability of rAAV Titer when Passed through a Surgical Device Used in Retinal Gene Therapy.
Mol Ther Methods Clin Dev
; 17: 99-106, 2020 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31890744
17.
Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.
Nat Med
; 26(3): 354-359, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32094925
18.
Molecular Strategies for RPGR Gene Therapy.
Genes (Basel)
; 10(9)2019 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31487940
19.
A Quantitative Chloride Channel Conductance Assay for Efficacy Testing of AAV.BEST1.
Hum Gene Ther Methods
; 30(2): 44-52, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30963787
20.
Gene therapy for the treatment of X-linked retinitis pigmentosa.
Expert Opin Orphan Drugs
; 6(3): 167-177, 2018 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057863