A Muscleblind Knockout Model for Myotonic Dystrophy
- R. Kanadia, K. Johnstone, M. Swanson
- BiologyScience
- 12 December 2003
It is shown that disruption of the mouse Mbnl1 gene leads to muscle, eye, and RNAsplicing abnormalities that are characteristic of DM disease.
DICER1 Loss and Alu RNA Induce Age-Related Macular Degeneration via the NLRP3 Inflammasome and MyD88
- V. Tarallo, Yoshio Hirano, J. Ambati
- BiologyCell
- 11 May 2012
Gene therapy restores vision in a canine model of childhood blindness
- G. Acland, G. Aguirre, J. Bennett
- Biology, MedicineNature Genetics
- 1 May 2001
The results indicate that visual function was restored in this large animal model of childhood blindness, and gene therapy directed at photoreceptors and RPE in a large-animal model of human disease has not been reported.
DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration
Findings reveal a miRNA-independent cell survival function for DICER1 involving retrotransposon transcript degradation, show that Alu RNA can directly cause human pathology, and identify new targets for a major cause of blindness.
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.
- W. Hauswirth, T. Aleman, S. Jacobson
- MedicineHuman Gene Therapy
- 7 October 2008
A recombinant adeno-associated virus serotype 2 vector, altered to carry the human RPE65 gene (rAAV2-CBSB-hRPE65) restored vision in animal models with R PE65 deficiency, and Comparisons are drawn between the present work and two other studies of ocular gene therapy for RPE 65-LCA that were carried out contemporaneously and reported.
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.
- S. Jacobson, A. Cideciyan, W. Hauswirth
- MedicineA M A Archives of Ophthalmology
- 9 January 2012
Gene therapy for Leber congenital amaurosis caused by RPE65 mutations is sufficiently safe and substantially efficacious in the extrafoveal retina and the results point to specific treatment strategies for subsequent phases.
Gene therapy rescues cone function in congenital achromatopsia.
- A. Komáromy, J. Alexander, G. Aguirre
- Biology, MedicineHuman Molecular Genetics
- 1 July 2010
It is demonstrated that rAAV-mediated gene replacement therapy with different forms of the human red cone opsin promoter led to the restoration of cone function and day vision in two canine models of CNGB3 achromatopsia, a neuronal channelopathy that is the most common form of achrom atopsia in man.
A "humanized" green fluorescent protein cDNA adapted for high-level expression in mammalian cells
- S. Zolotukhin, M. Potter, W. Hauswirth, J. Guy, N. Muzyczka
- BiologyJournal of Virology
- 1 July 1996
Gfph, a synthetic version of the jellyfish Aequorea victoria green fluorescent protein cDNA that is adapted for high-level expression in mammalian cells, can be readily sorted by fluorescence-activated cell sorting, suggesting that the newly designed gfph gene could be widely used as a reporter in many gene delivery technologies, including human gene therapy.
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
- A. Cideciyan, T. Aleman, W. Hauswirth
- Biology, MedicineProceedings of the National Academy of Sciences
- 30 September 2008
It is found that the intervention could overcome nearly all of the loss of light sensitivity resulting from the biochemical blockade, however, this reconstituted retinoid cycle was not completely normal.
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
- A. Cideciyan, S. Jacobson, G. Aguirre
- Biology, MedicineProceedings of the National Academy of Sciences
- 22 January 2013
It is shown that gene therapy improves vision for at least 3 y, but photoreceptor degeneration progresses unabated in humans, and in the canine model, the same result occurs when treatment is at the disease stage equivalent to humans.
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