scholarly journals Long-Term Preservation of Cones and Improvement in Visual Function Following Gene Therapy in a Mouse Model of Leber Congenital Amaurosis Caused by Guanylate Cyclase-1 Deficiency

2011 ◽  
Vol 22 (10) ◽  
pp. 1179-1190 ◽  
Author(s):  
Marija Mihelec ◽  
Rachael A. Pearson ◽  
Scott J. Robbie ◽  
Prateek K. Buch ◽  
Selina A. Azam ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Guanylate Cyclase ◽  
Visual Function ◽  
Leber Congenital Amaurosis ◽  
Long Term Preservation

scholarly journals Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy

2011 ◽  
Vol 20 (16) ◽  
pp. 3161-3175 ◽  
Author(s):  
L. S. Carvalho ◽  
J. Xu ◽  
R. A. Pearson ◽  
A. J. Smith ◽  
J. W. Bainbridge ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Visual Function ◽  
Age Dependent

scholarly journals AAV-Mediated Gene Therapy in the Guanylate Cyclase (RetGC1/RetGC2) Double Knockout Mouse Model of Leber Congenital Amaurosis

2013 ◽  
Vol 24 (2) ◽  
pp. 189-202 ◽  
Author(s):  
Sanford L. Boye ◽  
Igor V. Peshenko ◽  
Wei Chieh Huang ◽  
Seok Hong Min ◽  
Issam McDoom ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Guanylate Cyclase ◽  
Knockout Mouse ◽  
Double Knockout ◽  
Knockout Mouse Model ◽  
Leber Congenital Amaurosis ◽  
Double Knockout Mouse

scholarly journals Gene Therapy Fully Restores Vision to the All-Cone Nrl−/−Gucy2e−/− Mouse Model of Leber Congenital Amaurosis-1

2015 ◽  
Vol 26 (9) ◽  
pp. 575-592 ◽  
Author(s):  
Sanford L. Boye ◽  
James J. Peterson ◽  
Shreyasi Choudhury ◽  
Seok Hong Min ◽  
Qing Ruan ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Leber Congenital Amaurosis

scholarly journals Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis

2018 ◽  
Vol 26 (1) ◽  
pp. 256-268 ◽  
Author(s):  
Guylène Le Meur ◽  
Pierre Lebranchu ◽  
Fanny Billaud ◽  
Oumeya Adjali ◽  
Sébastien Schmitt ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Leber Congenital Amaurosis ◽  
Term Efficacy

scholarly journals Long-Term Improvement of Neurological Signs and Metabolic Dysfunction in a Mouse Model of Krabbe’s Disease after Global Gene Therapy

2018 ◽  
Vol 26 (3) ◽  
pp. 874-889 ◽  
Author(s):  
Michael S. Marshall ◽  
Yazan Issa ◽  
Benas Jakubauskas ◽  
Monika Stoskute ◽  
Vince Elackattu ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Metabolic Dysfunction ◽  
Krabbe's Disease ◽  
Neurological Signs ◽  
Krabbe’S Disease

scholarly journals Deletion of M-opsin prevents “M cone” degeneration in a mouse model of Leber congenital amaurosis

2019 ◽  
Author(s):  
Hui Xu ◽  
Nduka Enemchukwu ◽  
Xiaoyue Zhong ◽  
Olivia Zhang ◽  
Yingbin Fu
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
General Mechanism ◽  
Mouse Line ◽  
Photoreceptor Degeneration ◽  
Multiple Forms ◽  
Leber Congenital Amaurosis ◽  
Reporter Mouse ◽  
Therapy Strategy ◽  
Gene Therapy Strategy

AbstractMutations in RPE65 or lecithin-retinol acyltransferase (LRAT) disrupt 11-cis-retinal synthesis and cause Leber congenital amaurosis (LCA). In Lrat−/− mouse model, mislocalized medium (M)-wavelength sensitive opsin was degraded whereas mislocalized short (S)-wavelength sensitive opsin accumulated before the onset of cone degeneration. The mechanism for the foveal medium (M)/long (L)-wavelength-sensitive cone degeneration in LCA is unknown. By crossing Lrat−/− mice with a proteasome reporter mouse line, we showed that M-opsin enriched dorsal cones in Lrat−/− mice exhibit proteasome stress due to the degradation of large amounts of M-opsin. Deletion of M-opsin relieves the proteasome stress and completely prevents “M cone” degeneration in Lrat−/−Opn1sw−/− mice (a pure “M cone” LCA model, Opn1sw−/− encoding S-opsin) for at least 12 months. Our results suggest that M-opsin degradation associated proteasome stress plays a major role in “M cone” degeneration in Lrat−/− model. This finding may represent a general mechanism for “M cone” degeneration for multiple forms of cone degeneration due to M-opsin mislocalization and degradation. Our results have important implications for the current gene therapy strategy for LCA that emphasizes the need for a combinatorial therapy to both improve vision and slow photoreceptor degeneration.

scholarly journals Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy

2019 ◽  
Vol 30 (5) ◽  
pp. 632-650 ◽  
Author(s):  
Anil Chekuri ◽  
Bhubanananda Sahu ◽  
Venkata Ramana Murthy Chavali ◽  
Marina Voronchikhina ◽  
Angel Soto-Hermida ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Long Term Effects
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