Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Pedro R.L. Perdigão"'
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:
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:
Pedro R.L. Perdigão, Catarina Cunha-Santos, Carlos F. Barbas, III, Mariana Santa-Marta, Joao Goncalves
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 18, Iss , Pp 145-158 (2020)
Despite efforts to develop effective treatments for eradicating HIV-1, a cure has not yet been achieved. Whereas antiretroviral drugs target an actively replicating virus, latent, nonreplicative forms persist during treatment. Pharmacological strateg
Externí odkaz:
https://doaj.org/article/ad59ae7f6a2f4b18b663137ff8b65092
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:
David Rufino-Ramos, Kevin Leandro, Pedro R.L. Perdigão, Killian O'Brien, Maria Manuel Pinto, Magda M. Santana, Thomas S. van Solinge, Shadi Mahjoum, Xandra O. Breakefield, Koen Breyne, Luís Pereira de Almeida
Publikováno v:
Molecular Therapy.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8de8756a2ee1db7684e1af53fc73f529
https://doi.org/10.1016/j.ymthe.2023.05.012
https://doi.org/10.1016/j.ymthe.2023.05.012
Autor:
David Rufino-Ramos, Kevin Leandro, Pedro R.L. Perdigão, Killian O’Brien, Maria Manuel Pinto, Magda M. Santana, Thomas S van Solinge, Shadi Mahjoum, Xandra O Breakefield, Koen Breyne, Luís Pereira de Almeida
1ABSTRACTIn the central nervous system (CNS), the crosstalk between neural cells is mediated by extracellular mechanisms, including brain-derived extracellular vesicles (bdEVs).To study endogenous communication across the brain and periphery, we expl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::062badc0508799e14609b4179479cdcd
https://doi.org/10.1101/2023.01.29.525937
https://doi.org/10.1101/2023.01.29.525937
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
Publikováno v:
Retinal Degenerative Diseases ISBN: 9783030273774
Leber congenital amaurosis (LCA) caused by AIPL1 mutations is one of the most severe forms of inherited retinal degeneration (IRD). The rapid and extensive photoreceptor degeneration challenges the development of potential treatments. Nevertheless, p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0739d77453b5541f574dc7b0008f7faf
https://doi.org/10.1007/978-3-030-27378-1_16
https://doi.org/10.1007/978-3-030-27378-1_16
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