Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Sacristan-Reviriego A"'
Autor:
Hali Sai, Bethany Ollington, Farah O. Rezek, Niuzheng Chai, Amelia Lane, Anastasios Georgiadis, James Bainbridge, Michel Michaelides, Almudena Sacristan-Reviriego, Pedro R.L. Perdigão, Amy Leung, Jacqueline van der Spuy
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 1, Pp 102148- (2024)
Biallelic variations in the aryl hydrocarbon receptor interacting protein-like 1 (AIPL1) gene cause Leber congenital amaurosis subtype 4 (LCA4), an autosomal recessive early-onset severe retinal dystrophy that leads to the rapid degeneration of retin
Externí odkaz:
https://doaj.org/article/b9beb1ebaa5940b7aa0820f78cbd3d1d
Autor:
Sai, Hali, Ollington, Bethany, Rezek, Farah O., Chai, Niuzheng, Lane, Amelia, Georgiadis, Anastasios, Bainbridge, James, Michaelides, Michel, Sacristan-Reviriego, Almudena, Perdigão, Pedro R.L., Leung, Amy, van der Spuy, Jacqueline
Publikováno v:
In Molecular Therapy - Nucleic Acids 12 March 2024 35(1)
Autor:
Leung, Amy, Sacristan-Reviriego, Almudena, Perdigão, Pedro R.L., Sai, Hali, Georgiou, Michalis, Kalitzeos, Angelos, Carr, Amanda-Jayne F., Coffey, Peter J., Michaelides, Michel, Bainbridge, James, Cheetham, Michael E., van der Spuy, Jacqueline
Publikováno v:
In Stem Cell Reports 11 October 2022 17(10):2187-2202
Autor:
Pedro R. L. Perdigão, Bethany Ollington, Hali Sai, Amy Leung, Almudena Sacristan-Reviriego, Jacqueline van der Spuy
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 6, p 5912 (2023)
Aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) is expressed in photoreceptors where it facilitates the assembly of phosphodiesterase 6 (PDE6) which hydrolyses cGMP within the phototransduction cascade. Genetic variations in AIPL1 cause
Externí odkaz:
https://doaj.org/article/242063cb310a49cba5915f4cac077a1c
Autor:
Amy Leung, Almudena Sacristan-Reviriego, Pedro R.L. Perdigão, Hali Sai, Michalis Georgiou, Angelos Kalitzeos, Amanda-Jayne F. Carr, Peter J. Coffey, Michel Michaelides, James Bainbridge, Michael E. Cheetham, Jacqueline van der Spuy
Publikováno v:
Stem Cell Reports. 17:2187-2202
Leber congenital amaurosis type 4 (LCA4), caused by AIPL1 mutations, is characterized by severe sight impairment in infancy and rapidly progressing degeneration of photoreceptor cells. We generated retinal organoids using induced pluripotent stem cel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd48dd7e79bd2b59428b7b1ce5139f43
https://doi.org/10.1016/j.stemcr.2022.08.005
https://doi.org/10.1016/j.stemcr.2022.08.005
Akademický článek
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Autor:
Sacristan-Reviriego, Almudena1, Le, Hoang Mai1, Georgiou, Michalis1,2, Meunier, Isabelle3, Bocquet, Beatrice3, Roux, Anne-Françoise4, Prodromou, Chrisostomos5, Bainbridge, James1,2, Michaelides, Michel1,2, van der Spuy, Jacqueline1 j.spuy@ucl.ac.uk
Publikováno v:
Scientific Reports. 10/16/2020, Vol. 10 Issue 1, p1-15. 15p.
Autor:
Amy Leung, Almudena Sacristan-Reviriego, Pedro R. L. Perdigão, Hali Sai, Michalis Georgiou, Angelos Kalitzeos, Amanda-Jayne F. Carr, Peter J. Coffey, Michel Michaelides, James Bainbridge, Michael E. Cheetham, Jacqueline van der Spuy
SummaryLeber Congenital Amaurosis type 4 (LCA4), caused by AIPL1 mutations, is characterised by severe sight impairment in infancy and rapidly progressive degeneration of photoreceptor cells. We generated retinal organoids using induced pluripotent s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b81792357e65ced4c9e93af4514cf9ee
https://doi.org/10.1101/2021.12.17.473147
https://doi.org/10.1101/2021.12.17.473147
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Publikováno v:
Advances in experimental medicine and biology. 1074
Mutations in the photoreceptor/pineal-expressed gene, aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1), are mainly associated with autosomal recessive Leber congenital amaurosis (LCA), the most severe form of inherited retinopathy that oc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1fabd4aea3511b1471d720ff0de3cd81
https://pubmed.ncbi.nlm.nih.gov/29721967
https://pubmed.ncbi.nlm.nih.gov/29721967