Literature DB >> 25596619

Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy.

Jonathan Aboshiha1, Adam M Dubis1, Jacqueline van der Spuy2, Koji M Nishiguchi1, Edward W Cheeseman3, Carmen Ayuso4, Miriam Ehrenberg5, Francesca Simonelli6, James W Bainbridge1, Michel Michaelides7.   

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Year:  2015        PMID： 25596619     DOI： 10.1016/j.ophtha.2014.11.019

Source DB:  PubMed          Journal:  Ophthalmology        ISSN： 0161-6420            Impact factor:   12.079


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  12 in total

1.  NMNAT1 variants cause cone and cone-rod dystrophy.

Authors:  Benjamin M Nash; Richard Symes; Himanshu Goel; Marcel E Dinger; Bruce Bennetts; John R Grigg; Robyn V Jamieson
Journal:  Eur J Hum Genet       Date:  2017-11-28       Impact factor: 4.246

2.  Near-infrared light-guided miniaturized indirect ophthalmoscopy for nonmydriatic wide-field fundus photography.

Authors:  Devrim Toslak; Changgeng Liu; Minhaj Nur Alam; Xincheng Yao
Journal:  Opt Lett       Date:  2018-06-01       Impact factor: 3.776

Review 3.  Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.

Authors:  Neruban Kumaran; Anthony T Moore; Richard G Weleber; Michel Michaelides
Journal:  Br J Ophthalmol       Date:  2017-07-08       Impact factor: 4.638

4.  The genetic profile of Leber congenital amaurosis in an Australian cohort.

Authors:  Jennifer A Thompson; John N De Roach; Terri L McLaren; Hannah E Montgomery; Ling H Hoffmann; Isabella R Campbell; Fred K Chen; David A Mackey; Tina M Lamey
Journal:  Mol Genet Genomic Med       Date:  2017-08-22       Impact factor: 2.183

5.  Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1.

Authors:  Dunja Lukovic; Ana Artero Castro; Koray Dogan Kaya; Daniella Munezero; Linn Gieser; Carlota Davó-Martínez; Marta Corton; Nicolás Cuenca; Anand Swaroop; Visvanathan Ramamurthy; Carmen Ayuso; Slaven Erceg
Journal:  Sci Rep       Date:  2020-03-25       Impact factor: 4.379

6.  Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.

Authors:  Almudena Sacristan-Reviriego; Hoang Mai Le; Michalis Georgiou; Isabelle Meunier; Beatrice Bocquet; Anne-Françoise Roux; Chrisostomos Prodromou; James Bainbridge; Michel Michaelides; Jacqueline van der Spuy
Journal:  Sci Rep       Date:  2020-10-16       Impact factor: 4.379

7.  The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.

Authors:  Graeme C Black; Panagiotis Sergouniotis; Andrea Sodi; Bart P Leroy; Caroline Van Cauwenbergh; Petra Liskova; Karen Grønskov; Artur Klett; Susanne Kohl; Gita Taurina; Marius Sukys; Lonneke Haer-Wigman; Katarzyna Nowomiejska; João Pedro Marques; Dorothée Leroux; Frans P M Cremers; Elfride De Baere; Hélène Dollfus
Journal:  Orphanet J Rare Dis       Date:  2021-03-20       Impact factor: 4.123

8.  Retinal imaging in inherited retinal diseases.

Authors:  Michalis Georgiou; Kaoru Fujinami; Michel Michaelides
Journal:  Ann Eye Sci       Date:  2020-09-15

Review 9.  Voretigene Neparvovec and Gene Therapy for Leber's Congenital Amaurosis: Review of Evidence to Date.

Authors:  Srikanta Kumar Padhy; Brijesh Takkar; Raja Narayanan; Pradeep Venkatesh; Subhadra Jalali
Journal:  Appl Clin Genet       Date:  2020-11-25

10.  The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.

Authors:  Almudena Sacristan-Reviriego; James Bellingham; Chrisostomos Prodromou; Annika N Boehm; Neruban Kumaran; James Bainbridge; Michel Michaelides; Jacqueline van der Spuy
Journal:  Hum Mol Genet       Date:  2017-11-15       Impact factor: 6.150
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