المؤلفون: Sai, Hali, Ollington, Bethany, Rezek, Farah O, Chai, Niuzheng, Lane, Amelia, Georgiadis, Tassos, Bainbridge, James, Michaelides, Michel, Sacristan-Reviriego, Almudena, Perdigão, Pedro RL, Leung, Amy, van der Spuy, Jacqueline

المصدر: Molecular Therapy - Nucleic Acids , 35 (1) , Article 102148. (2024)

مصطلحات موضوعية: MT: Delivery strategies, Leber congenital amaurosis, retinal organoid, aryl hydrocarbon receptor, interacting protein-like 1adeno-associated virus, inherited retinal degeneration, gene therapy, induced pluripotent stem cells

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10188446/1/OMTN102148_proof.pdf; https://discovery.ucl.ac.uk/id/eprint/10188446/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10188446/1/OMTN102148_proof.pdf
https://discovery.ucl.ac.uk/id/eprint/10188446/

المؤلفون: Perdigão, Pedro RL, Ollington, Bethany, Sai, Hali, Leung, Amy, Sacristan-Reviriego, Almudena, van der Spuy, Jacqueline

المصدر: International Journal of Molecular Sciences , 24 (6) , Article 5912. (2023)

مصطلحات موضوعية: AIPL1, CRISPR/Cas9 gene editing, Leber congenital amaurosis, inherited retinal dystrophy, retinal organoid, Child, Preschool, Humans, Carrier Proteins, Adaptor Proteins, Signal Transducing, CRISPR-Cas Systems, Cell Line, Organoids, Eye Proteins

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10168444/1/van%20der%20Spuy_ijms-24-05912.pdf; https://discovery.ucl.ac.uk/id/eprint/10168444/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10168444/1/van%20der%20Spuy_ijms-24-05912.pdf
https://discovery.ucl.ac.uk/id/eprint/10168444/

المؤلفون: Corral-Serrano, Julio C, Sladen, Paul E, Ottaviani, Daniele, Rezek, Olivia F, Athanasiou, Dimitra, Jovanovic, Katarina, Van der Spuy, Jacqueline, Mansfield, Brian C, Cheetham, Michael E

المصدر: Cells , 12 (12) , Article 1575. (2023)

مصطلحات موضوعية: CEP290, Leber congenital amaurosis (LCA), retina, ciliopathy, photoreceptor, cilium, eupatilin, retinal organoid

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10172581/1/cells-12-01575.pdf; https://discovery.ucl.ac.uk/id/eprint/10172581/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10172581/1/cells-12-01575.pdf
https://discovery.ucl.ac.uk/id/eprint/10172581/

المؤلفون: Afanasyeva, Tess A.V., Athanasiou, Dimitra, Perdigao, Pedro R.L., Whiting, Kae R., Duijkers, Lonneke, Astuti, Galuh D.N., Bennett, Jean, Garanto, Alejandro, van der Spuy, Jacqueline, Roepman, Ronald, Cheetham, Michael E., Collin, Rob W.J.

المصدر: Molecular Therapy - Methods & Clinical Development ; volume 29, page 522-531 ; ISSN 2329-0501

الاتاحة: http://dx.doi.org/10.1016/j.omtm.2023.05.012
https://api.elsevier.com/content/article/PII:S2329050123000748?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2329050123000748?httpAccept=text/plain

المؤلفون: Benati, Daniela, Leung, Amy, Perdigao, Pedro, Toulis, Vasileios, van der Spuy, Jacqueline, Recchia, Alessandra

المساهمون: Benati, Daniela, Leung, Amy, Perdigao, Pedro, Toulis, Vasileio, van der Spuy, Jacqueline, Recchia, Alessandra

مصطلحات موضوعية: CRISPR/Ca, induced pluripotent stem cell, retinal disorders

Relation: info:eu-repo/semantics/altIdentifier/pmid/36499601; info:eu-repo/semantics/altIdentifier/wos/WOS:000897335300001; volume:23; issue:23; firstpage:15276; lastpage:15297; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11380/1299300; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85143606445

الاتاحة: https://hdl.handle.net/11380/1299300
https://doi.org/10.3390/ijms232315276

المؤلفون: Leung, Amy, Sacristan-Reviriego, Almudena, Perdigão, Pedro RL, Sai, Hali, Georgiou, Michalis, Kalitzeos, Angelos, Carr, Amanda-Jayne F, Coffey, Peter J, Michaelides, Michel, Bainbridge, James, Cheetham, Michael E, van der Spuy, Jacqueline

المصدر: Stem Cell Reports (2022) (In press).

مصطلحات موضوعية: CRISPR-Cas9, LCA, Leber congenital amaurosis, ROs, TRID, gene editing, induced pluripotent stem cells, inherited retinal degeneration, renal epithelial cell reprogramming, retinal organoids, translation readthrough-inducing drug

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10155654/1/1-s2.0-S2213671122004143-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10155654/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10155654/1/1-s2.0-S2213671122004143-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10155654/

المؤلفون: Sladen, Paul E, Perdigão, Pedro RL, Salsbury, Grace, Novoselova, Tatiana, van der Spuy, Jacqueline, Chapple, J Paul, Yu-Wai-Man, Patrick, Cheetham, Michael E

مصطلحات موضوعية: CRISPR, OPA1, apoptosis, bioenergetics, gene correction, gene editing, iPSC, mitochondria, optic atrophy, retinal ganglion cell

وصف الملف: Electronic-eCollection; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/330150

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/330150
https://doi.org/10.17863/CAM.77593

المؤلفون: Sladen, Paul E., Perdigão, Pedro R.L., Salsbury, Grace, Novoselova, Tatiana, van der Spuy, Jacqueline, Chapple, J. Paul, Yu-Wai-Man, Patrick, Cheetham, Michael E.

المساهمون: Wellcome Trust, Medical Research Council, Fight for Sight, Isaac Newton Trust, NIHR Moorfields Biomedical Research Centre, Moorfields Eye Charity

المصدر: Molecular Therapy - Nucleic Acids ; volume 26, page 432-443 ; ISSN 2162-2531

الاتاحة: http://dx.doi.org/10.1016/j.omtn.2021.08.015
https://api.elsevier.com/content/article/PII:S2162253121002092?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2162253121002092?httpAccept=text/plain

المؤلفون: Boehm, Annika N., Bialas, Johanna, Catone, Nicola, Sacristan-Reviriego, Almudena, van der Spuy, Jacqueline, Gröttrup, Marcus, Aichem, Annette

المصدر: The Journal of Biological Chemistry (JBC). American Society for Biochemistry and Molecular Biology. 2020, 295(42), pp. 14402-14418. ISSN 0021-9258. eISSN 1083-351X. Available under: doi:10.1074/jbc.RA120.013873

مصطلحات موضوعية: ddc:570

وصف الملف: application/pdf

Relation: http://nbn-resolving.de/urn:nbn:de:bsz:352-2-kld8415xjaa97; http://dx.doi.org/10.1074/jbc.RA120.013873

الاتاحة: http://nbn-resolving.de/urn:nbn:de:bsz:352-2-kld8415xjaa97
https://doi.org/10.1074/jbc.RA120.013873

المؤلفون: Sacristan-Reviriego, Almudena, Le, Hoang Mai, Georgiou, Michalis, Meunier, Isabelle, Bocquet, Beatrice, Roux, Anne-Françoise, Prodromou, Chrisostomos, Bainbridge, James, Michaelides, Michel, van der Spuy, Jacqueline

المساهمون: Retina UK, Medical Research Council

المصدر: Scientific Reports ; volume 10, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-020-74516-9
https://www.nature.com/articles/s41598-020-74516-9.pdf
https://www.nature.com/articles/s41598-020-74516-9

المؤلفون: Prodromou, Chrisostomos, Aran Guiu, Xavi, Oberoi, Jasmeen, Perna, Laura, Chapple, J Paul, van der Spuy, Jacqueline

المساهمون: Edkins, Adrienne L, Blatch, Gregory L

Relation: Prodromou, Chrisostomos, Aran Guiu, Xavi, Oberoi, Jasmeen, Perna, Laura, Chapple, J Paul and van der Spuy, Jacqueline (2022) HSP70-HSP90 chaperone networking in protein-misfolding disease. In: Edkins, Adrienne L and Blatch, Gregory L (eds.) The Networking of Chaperones by Co-Chaperones. Springer International Publishing, pp. 389-425. ISBN 9783031147401

الاتاحة: http://sro.sussex.ac.uk/id/eprint/112418/
https://doi.org/10.1007/978-3-031-14740-1_13

المؤلفون: Sacristan-Reviriego, Almudena, Bellingham, James, Prodromou, Chrisostomos, Boehm, Annika N, Aichem, Annette, Kumaran, Neruban, Bainbridge, James, Michaelides, Michel, van der Spuy, Jacqueline

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/106476/1/The%20integrity%20and%20organization%20of%20the%20human%20AIPL1%20functional%20domains%20is%20critical%20for%20its%20role%20as%20a%20HSP90-dependent%20co-chaper.pdf; Sacristan-Reviriego, Almudena, Bellingham, James, Prodromou, Chrisostomos, Boehm, Annika N, Aichem, Annette, Kumaran, Neruban, Bainbridge, James, Michaelides, Michel and van der Spuy, Jacqueline (2018) Corrigendum: The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6. Human Molecular Genetics, 27 (7). p. 1309. ISSN 0964-6906

الاتاحة: http://sro.sussex.ac.uk/id/eprint/106476/
http://sro.sussex.ac.uk/id/eprint/106476/1/The%20integrity%20and%20organization%20of%20the%20human%20AIPL1%20functional%20domains%20is%20critical%20for%20its%20role%20as%20a%20HSP90-dependent%20co-chaper.pdf
https://doi.org/10.1093/hmg/ddy024

المؤلفون: Corral-Serrano, Julio C., Sladen, Paul E., Ottaviani, Daniele, Rezek, Olivia F., Athanasiou, Dimitra, Jovanovic, Katarina, van der Spuy, Jacqueline, Mansfield, Brian C., Cheetham, Michael E.

المصدر: Cells (2073-4409); Jun2023, Vol. 12 Issue 12, p1575, 16p

مصطلحات موضوعية: CILIOPATHY, CILIA & ciliary motion, PHOTORECEPTORS, RETINAL diseases, GENE expression, RHODOPSIN, ANTISENSE RNA

المؤلفون: Sacristan-Reviriego, Almudena, Bellingham, James, Prodromou, Chrisostomos, Boehm, Annika N, Aichem, Annette, Kumaran, Neruban, Bainbridge, James, Michaelides, Michel, van der Spuy, Jacqueline

المساهمون: Rosetrees Trust

المصدر: Human Molecular Genetics ; volume 26, issue 22, page 4465-4480 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddx334
http://academic.oup.com/hmg/article-pdf/26/22/4465/24339420/ddx334.pdf

المؤلفون: Aboelnour, Asmaa, Van der Spuy, Jacqueline, Powner, Michael, Jeffery, Glen

المساهمون: BBBSRC, Egyptian Government Mission, Faculty of Veterinary Medicine, Damanhour University, Egypt

المصدر: Experimental Eye Research ; volume 165, page 105-108 ; ISSN 0014-4835

الاتاحة: http://dx.doi.org/10.1016/j.exer.2017.09.013
https://api.elsevier.com/content/article/PII:S001448351730605X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S001448351730605X?httpAccept=text/plain

المؤلفون: Hidalgo-de-Quintana, Juan, Schwarz, Nele, Meschede, Ingrid P., Stern-Schneider, Gabriele, Powner, Michael B., Morrison, Ewan E., Futter, Clare E., Wolfrum, Uwe, Cheetham, Michael E., van der Spuy, Jacqueline

المساهمون: Li, Tiansen

المصدر: PLOS ONE ; volume 10, issue 3, page e0121440 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0121440
http://dx.plos.org/10.1371/journal.pone.0121440

المؤلفون: Bett, John S., Kanuga, Naheed, Richet, Emma, Schmidtke, Gunter, Groettrup, Marcus, Cheetham, Michael E., van der Spuy, Jacqueline

وصف الملف: text

Relation: https://eprints.gla.ac.uk/102883/1/102883.pdf; Bett, J. S. , Kanuga, N., Richet, E., Schmidtke, G., Groettrup, M., Cheetham, M. E. and van der Spuy, J. (2012) The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathway. PLoS ONE , 7(2), e30866. (doi:10.1371/journal.pone.0030866 ) (PMID:22347407) (PMCID:PMC3274541)

الاتاحة: https://eprints.gla.ac.uk/102883/
https://eprints.gla.ac.uk/102883/1/102883.pdf

المؤلفون: Richet, Emma, Pooler, Amy M, Rodriguez, Teresa, Novoselov, Sergey S, Schmidtke, Gunter, Groettrup, Marcus, Hanger, Diane P, Cheetham, Michael E, van der Spuy, Jacqueline

مصطلحات موضوعية: Article

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/dds376v2; http://dx.doi.org/10.1093/hmg/dds376

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/dds376v2
https://doi.org/10.1093/hmg/dds376

المؤلفون: Ziaka, Kalliopi¹ (AUTHOR) kalliopi.ziaka.16@ucl.ac.uk, van der Spuy, Jacqueline¹ (AUTHOR) j.spuy@ucl.ac.uk

المصدر: Biomolecules (2218-273X). Jul2022, Vol. 12 Issue 7, pN.PAG-N.PAG. 20p.

مصطلحات موضوعية: *PHOTORECEPTORS, *HEAT shock proteins, *RETINAL diseases

المؤلفون: Perdigao, Pedro R. L., van der Spuy, Jacqueline

المصدر: Retinal Degenerative Diseases ; Advances in Experimental Medicine and Biology ; page 97-101 ; ISSN 0065-2598 2214-8019 ; ISBN 9783030273774 9783030273781

الاتاحة: http://dx.doi.org/10.1007/978-3-030-27378-1_16
http://link.springer.com/content/pdf/10.1007/978-3-030-27378-1_16