The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification.
Cross SH. et al, (2020), PLoS Genet, 16
Enhancement of Adeno-Associated Virus-Mediated Gene Therapy Using Hydroxychloroquine in Murine and Human Tissues.
Chandler LC. et al, (2019), Mol Ther Methods Clin Dev, 14, 77 - 89
Filtration of Short-Wavelength Light Provides Therapeutic Benefit in Retinitis Pigmentosa Caused by a Common Rhodopsin Mutation.
Orlans HO. et al, (2019), Invest Ophthalmol Vis Sci, 60, 2733 - 2742
Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia.
Xue K. et al, (2018), Nat Med, 24, 1507 - 1512
Differential roles for cryptochromes in the mammalian retinal clock.
Wong JCY. et al, (2018), FASEB J, 32, 4302 - 4314
Choroideremia: molecular mechanisms and development of AAV gene therapy.
Patrício MI. et al, (2018), Expert Opin Biol Ther, 18, 807 - 820
Vector shedding and immunology results from a gene therapy clinical trial for choroideremia
Barnard AR. et al, (2018), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 59
The Biological Activity of AAV Vectors for Choroideremia Gene Therapy Can Be Measured by In Vitro Prenylation of RAB6A.
Patrício MI. et al, (2018), Mol Ther Methods Clin Dev, 9, 288 - 295
A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies.
Banks G. et al, (2018), Mol Psychiatry, 23, 713 - 722
A clinical-grade gene therapy vector for pharmacoresistant epilepsy successfully overexpresses NPY in a human neuronal cell line.
Patrício MI. et al, (2018), Seizure, 55, 25 - 29
Vector Shedding and Immunogenicity Sampling for Retinal Gene Therapy.
Barnard AR. et al, (2018), Methods Mol Biol, 1715, 359 - 371
Tropism of engineered and evolved recombinant AAV serotypes in the rd1 mouse and ex vivo primate retina.
Hickey DG. et al, (2017), Gene Ther, 24, 787 - 800
Long-term restoration of visual function in end-stage retinal degeneration using subretinal human melanopsin gene therapy.
De Silva SR. et al, (2017), Proc Natl Acad Sci U S A, 114, 11211 - 11216
Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa.
Fischer MD. et al, (2017), Mol Ther, 25, 1854 - 1865
Impact of Vital Dyes on Cell Viability and Transduction Efficiency of AAV Vectors Used in Retinal Gene Therapy Surgery: An In Vitro and In Vivo Analysis.
Salvetti AP. et al, (2017), Transl Vis Sci Technol, 6
Prenylation of Rab6a as a Potency Assay for Choroideremia Gene Therapy
Patricio MI. et al, (2017), MOLECULAR THERAPY, 25, 142 - 143
Inclusion of the Woodchuck Hepatitis Virus Posttranscriptional Regulatory Element Enhances AAV2-Driven Transduction of Mouse and Human Retina.
Patrício MI. et al, (2017), Mol Ther Nucleic Acids, 6, 198 - 208
Transplanted photoreceptor precursors transfer proteins to host photoreceptors by a mechanism of cytoplasmic fusion.
Singh MS. et al, (2016), Nat Commun, 7
Single residue AAV capsid mutation improves transduction of photoreceptors in the Abca4-/- mouse and bipolar cells in the rd1 mouse and human retina ex vivo.
De Silva SR. et al, (2016), Gene Ther, 23, 767 - 774