Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Jacqueline, van der Spuy"'
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:
Tess A.V. Afanasyeva, Dimitra Athanasiou, Pedro R.L. Perdigao, Kae R. Whiting, Lonneke Duijkers, Galuh D.N. Astuti, Jean Bennett, Alejandro Garanto, Jacqueline van der Spuy, Ronald Roepman, Michael E. Cheetham, Rob W.J. Collin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 29, Iss , Pp 522-531 (2023)
Mutations in the lebercilin-encoding gene LCA5 cause one of the most severe forms of Leber congenital amaurosis, an early-onset retinal disease that results in severe visual impairment. Here, we report on the generation of a patient-specific cellular
Externí odkaz:
https://doaj.org/article/638b92cd785044729f1ee8d162702be3
Autor:
Paul E. Sladen, Pedro R.L. Perdigão, Grace Salsbury, Tatiana Novoselova, Jacqueline van der Spuy, J. Paul Chapple, Patrick Yu-Wai-Man, Michael E. Cheetham
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 26, Iss , Pp 432-443 (2021)
Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy in the United Kingdom. DOA has an insidious onset in early childhood, typically presenting with bilateral, central visual loss caused by the preferential loss of ret
Externí odkaz:
https://doaj.org/article/d52d4e05c1eb45a79497e28aa0a85bf6
Autor:
Julio C. Corral-Serrano, Paul E. Sladen, Daniele Ottaviani, Olivia F. Rezek, Dimitra Athanasiou, Katarina Jovanovic, Jacqueline van der Spuy, Brian C. Mansfield, Michael E. Cheetham
Publikováno v:
Cells, Vol 12, Iss 12, p 1575 (2023)
The photoreceptor outer segment is a highly specialized primary cilium that is essential for phototransduction and vision. Biallelic pathogenic variants in the cilia-associated gene CEP290 cause non-syndromic Leber congenital amaurosis 10 (LCA10) and
Externí odkaz:
https://doaj.org/article/1016abdbffcb4d30924bf3e03055d4a3
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:
Daniela Benati, Amy Leung, Pedro Perdigao, Vasileios Toulis, Jacqueline van der Spuy, Alessandra Recchia
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 23, p 15276 (2022)
Inherited retinal disorders (IRDs) affect millions of people worldwide and are a major cause of irreversible blindness. Therapies based on drugs, gene augmentation or transplantation approaches have been widely investigated and proposed. Among gene t
Externí odkaz:
https://doaj.org/article/41adeaac9b5c489ab1bc37bfcfdc2c87
Publikováno v:
Biomolecules, Vol 12, Iss 7, p 978 (2022)
Photoreceptors are sensitive neuronal cells with great metabolic demands, as they are responsible for carrying out visual phototransduction, a complex and multistep process that requires the exquisite coordination of a large number of signalling prot
Externí odkaz:
https://doaj.org/article/2716c6d697e04e2c9ab8d69dd16e2c57
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
Autor:
Cheetham, Julio C. Corral-Serrano, Paul E. Sladen, Daniele Ottaviani, Olivia F. Rezek, Dimitra Athanasiou, Katarina Jovanovic, Jacqueline van der Spuy, Brian C. Mansfield, Michael E.
Publikováno v:
Cells; Volume 12; Issue 12; Pages: 1575
The photoreceptor outer segment is a highly specialized primary cilium that is essential for phototransduction and vision. Biallelic pathogenic variants in the cilia-associated gene CEP290 cause non-syndromic Leber congenital amaurosis 10 (LCA10) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::d3cc10089c21c6ecca5dca71e6454ac0
Autor:
Michael E. Cheetham, Patrick Yu-Wai-Man, Tatiana V. Novoselova, J. Paul Chapple, Grace Salsbury, Jacqueline van der Spuy, Pedro R.L. Perdigão, Paul Edward Sladen
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 26, Iss, Pp 432-443 (2021)
Molecular Therapy. Nucleic Acids
Molecular Therapy. Nucleic Acids
Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy in the United Kingdom. DOA has an insidious onset in early childhood, typically presenting with bilateral, central visual loss caused by the preferential loss of ret
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12ac57991f6567a0b0f735d22c87eee3
http://www.sciencedirect.com/science/article/pii/S2162253121002092
http://www.sciencedirect.com/science/article/pii/S2162253121002092