Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy

2011 ◽  
Vol 52 (8) ◽  
pp. 5618 ◽  
Author(s):  
Francesco Testa ◽  
Enrico Maria Surace ◽  
Settimio Rossi ◽  
Elena Marrocco ◽  
Annagiusi Gargiulo ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Leber Congenital Amaurosis ◽  
Potential Applicability

scholarly journals Replacement Gene Therapy with a HumanRPGRIP1Sequence Slows Photoreceptor Degeneration in a Murine Model of Leber Congenital Amaurosis

2010 ◽  
Vol 21 (8) ◽  
pp. 993-1004 ◽  
Author(s):  
Basil S. Pawlyk ◽  
Oleg V. Bulgakov ◽  
Xiaoqing Liu ◽  
Xiaoyun Xu ◽  
Michael Adamian ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Murine Model ◽  
Photoreceptor Degeneration ◽  
Leber Congenital Amaurosis

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 Leber Congenital Amaurosis gene therapy clinical trial

2009 ◽  
Vol 9 (14) ◽  
pp. 27-27 ◽  
Author(s):  
W. W. Hauswirth ◽  
A. V. Cideciyan ◽  
T. S. Aleman ◽  
S. Kaushal ◽  
B. J. Byrne ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Gene Therapy ◽  
Leber Congenital Amaurosis ◽  
Therapy Clinical Trial

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 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

Gene therapy for Leber congenital amaurosis due to RPE65 mutation: prospects for human application

2019 ◽  
pp. 770-775
Author(s):  
Keiser Nicholas W ◽  
Dejneka Nadine S ◽  
Maguire Albert M ◽  
Bennett Jean
Keyword(s):  
Gene Therapy ◽  
Leber Congenital Amaurosis
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