Search Results - "Aguilà, Mònica"

The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy by Athanasiou, Dimitra, Aguila, Monica, Bellingham, James, Li, Wenwen, McCulley, Caroline, Reeves, Philip J., Cheetham, Michael E.

“…Inherited mutations in the rod visual pigment, rhodopsin, cause the degenerative blinding condition, retinitis pigmentosa (RP). Over 150 different mutations in…”
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The cell stress machinery and retinal degeneration by Athanasiou, Dimitra, Aguilà, Monica, Bevilacqua, Dalila, Novoselov, Sergey S., Parfitt, David A., Cheetham, Michael E.

“…Retinal degenerations are a group of clinically and genetically heterogeneous disorders characterised by progressive loss of vision due to neurodegeneration…”
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Hsp90 as a Potential Therapeutic Target in Retinal Disease by Aguilà, Mònica, Cheetham, Michael E

“…The molecular chaperone heat shock protein 90 (Hsp90) is a pivotal cellular regulator involved in the folding, activation and assembly of a wide range of…”
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Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells by Schwarz, Nele, Carr, Amanda-Jayne, Lane, Amelia, Moeller, Fabian, Chen, Li Li, Aguilà, Mònica, Nommiste, Britta, Muthiah, Manickam N, Kanuga, Naheed, Wolfrum, Uwe, Nagel-Wolfrum, Kerstin, da Cruz, Lyndon, Coffey, Peter J, Cheetham, Michael E, Hardcastle, Alison J

“…Mutations in the RP2 gene lead to a severe form of X-linked retinitis pigmentosa. RP2 patients frequently present with nonsense mutations and no treatments are…”
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The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa by Athanasiou, Dimitra, Aguila, Monica, Bellingham, James, Kanuga, Naheed, Adamson, Peter, Cheetham, Michael E

“…Mutations in rhodopsin, the light-sensitive protein of rod cells, are the most common cause of dominant retinitis pigmentosa (RP), a type of inherited…”
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dual role for EDEM1 in the processing of rod opsin by Kosmaoglou, Maria, Kanuga, Naheed, Aguilà, Mònica, Garriga, Pere, Cheetham, Michael E

“…Mutations in rod opsin, the archetypal G-protein-coupled receptor, cause retinitis pigmentosa. The majority of mutations, e.g. P23H, cause protein misfolding,…”
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AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity by Aguilà, Monica, Bellingham, James, Athanasiou, Dimitra, Bevilacqua, Dalila, Duran, Yanai, Maswood, Ryea, Parfitt, David A, Iwawaki, Takao, Spyrou, Giannis, Smith, Alexander J, Ali, Robin R, Cheetham, Michael E

“…Abstract Rhodopsin misfolding caused by the P23H mutation is a major cause of autosomal dominant retinitis pigmentosa (adRP). To date, there are no effective…”
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Hsp90 inhibition protects against inherited retinal degeneration by Aguilà, Mònica, Bevilacqua, Dalila, McCulley, Caroline, Schwarz, Nele, Athanasiou, Dimitra, Kanuga, Naheed, Novoselov, Sergey S, Lange, Clemens A K, Ali, Robin R, Bainbridge, James W, Gias, Carlos, Coffey, Peter J, Garriga, Pere, Cheetham, Michael E

“…The molecular chaperone Hsp90 is important for the functional maturation of many client proteins, and inhibitors are in clinical trials for multiple…”
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Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models by Dulla, Kalyan, Aguila, Monica, Lane, Amelia, Jovanovic, Katarina, Parfitt, David A., Schulkens, Iris, Chan, Hee Lam, Schmidt, Iris, Beumer, Wouter, Vorthoren, Lars, Collin, Rob W.J., Garanto, Alejandro, Duijkers, Lonneke, Brugulat-Panes, Anna, Semo, Ma’ayan, Vugler, Anthony A., Biasutto, Patricia, Adamson, Peter, Cheetham, Michael E.

“…Leber congenital amaurosis type 10 (LCA10) is a severe inherited retinal dystrophy associated with mutations in CEP290. The deep intronic c.2991+1655A>G…”
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Arl3 and RP2 regulate the trafficking of ciliary tip kinesins by Schwarz, Nele, Lane, Amelia, Jovanovic, Katarina, Parfitt, David A, Aguila, Monica, Thompson, Clare L, da Cruz, Lyndon, Coffey, Peter J, Chapple, J Paul, Hardcastle, Alison J, Cheetham, Michael E

“…Ciliary trafficking defects are the underlying cause of many ciliopathies, including Retinitis Pigmentosa (RP). Anterograde intraflagellar transport (IFT) is…”
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Risk assessment of honey bee stressors based on in silico analysis of molecular interactions by Águila Conde, Mónica, Febbraio, Ferdinando

“…A global decline of the honey bee Apis mellifera has been observed in the last decades. This pollinator plays a fundamental role in food production and the…”
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Differential Light-induced Responses in Sectorial Inherited Retinal Degeneration by Ramon, Eva, Cordomí, Arnau, Aguilà, Mònica, Srinivasan, Sundaramoorthy, Dong, Xiaoyun, Moore, Anthony T., Webster, Andrew R., Cheetham, Michael E., Garriga, Pere

“…Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous inherited degenerative retinopathies caused by abnormalities of photoreceptors…”
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Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degeneration by Athanasiou, Dimitra, Aguila, Monica, Opefi, Chikwado A, South, Kieron, Bellingham, James, Bevilacqua, Dalila, Munro, Peter M, Kanuga, Naheed, Mackenzie, Francesca E, Dubis, Adam M, Georgiadis, Anastasios, Graca, Anna B, Pearson, Rachael A, Ali, Robin R, Sakami, Sanae, Palczewski, Krzysztof, Sherman, Michael Y, Reeves, Philip J, Cheetham, Michael E

“…Protein misfolding caused by inherited mutations leads to loss of protein function and potentially toxic 'gain of function', such as the dominant P23H…”
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Molecular Mechanisms of Disease for Mutations at Gly-90 in Rhodopsin by Toledo, Darwin, Ramon, Eva, Aguilà, Mònica, Cordomí, Arnau, Pérez, Juan J., Mendes, Hugo F., Cheetham, Michael E., Garriga, Pere

“…Two different mutations at Gly-90 in the second transmembrane helix of the photoreceptor protein rhodopsin have been proposed to lead to different phenotypes…”
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Updated reasoned opinion on the toxicological properties and maximum residue levels (MRLs) for the benzimidazole substances carbendazim and thiophanate‐methyl by Bellisai, Giulia, Bernasconi, Giovanni, Binaglia, Marco, Carrasco Cabrera, Luis, Castellan, Irene, Castoldi, Anna Federica, Chiusolo, Arianna, Crivellente, Federica, Del Aguila, Monica, Ferreira, Lucien, Giner Santonja, German, Greco, Luna, Istace, Frederique, Jarrah, Samira, Lanzoni, Anna, Leuschner, Renata, Mangas, Iris, Mioč, Andrea, Nave, Stefanie, Panzarea, Martina, Parra Morte, Juan Manuel, Pedersen, Ragnor, Reich, Hermine, Ruocco, Silvia, Scarlato, Alessia Pia, Szot, Marta, Terron, Andrea, Theobald, Anne, Tiramani, Manuela, Verani, Alessia

“…In compliance with Article 43 of Regulation (EC) No 396/2005, EFSA received from the European Commission in 2020 a mandate to provide its reasoned opinion on…”
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Modification of the existing maximum residue levels for mefentrifluconazole in various commodities by Bellisai, Giulia, Bernasconi, Giovanni, Carrasco Cabrera, Luis, Castellan, Irene, Aguila, Monica, Ferreira, Lucien, Santonja, German Giner, Greco, Luna, Jarrah, Samira, Leuschner, Renata, Perez, Javier Martinez, Miron, Ileana, Nave, Stefanie, Pedersen, Ragnor, Reich, Hermine, Ruocco, Silvia, Santos, Miguel, Scarlato, Alessia Pia, Theobald, Anne, Tiramani, Manuela, Verani, Alessia

“…In accordance with Article 6 of Regulation (EC) No 396/2005, the applicant BASF Agro B.V. Arnhem (NL) Freienbach Branch submitted a request to the competent…”
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Evaluation of confirmatory data following the Article 12 MRL review for S‐metolachlor by Bellisai, Giulia, Bernasconi, Giovanni, Carrasco Cabrera, Luis, Castellan, Irene, Aguila, Monica, Ferreira, Lucien, Santonja, German Giner, Greco, Luna, Jarrah, Samira, Leuschner, Renata, Perez, Javier Martinez, Miron, Ileana, Nave, Stefanie, Pedersen, Ragnor, Reich, Hermine, Ruocco, Silvia, Santos, Miguel, Scarlato, Alessia Pia, Theobald, Anne, Tiramani, Manuela, Verani, Alessia

“…The applicant Syngenta Crop Protection AG submitted a request to the competent national authority in Germany to evaluate the confirmatory data that were…”
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Targeted review of maximum residue levels (MRLs) for dicofol by Bellisai, Giulia, Bernasconi, Giovanni, Binaglia, Marco, Carrasco Cabrera, Luis, Castellan, Irene, Castoldi, Anna Federica, Chiusolo, Arianna, Chukwubike, Katia, Crivellente, Federica, Del Aguila, Monica, Ferreira, Lucien, Santonja, German Giner, Greco, Luna, Istace, Frederique, Jarrah, Samira, Lanzoni, Anna, Leuschner, Renata, Mangas, Iris, Martinez, Javier, Miron, Ileana, Nave, Stefanie, Panzarea, Martina, Parra Morte, Juan Manuel, Pedersen, Ragnor, Reich, Hermine, Ruocco, Silvia, Santos, Miguel, Scarlato, Alessia Pia, Terron, Andrea, Theobald, Anne, Tiramani, Manuela, Verani, Alessia

“…In accordance with Article 43 of Regulation (EC) 396/2005, EFSA received a request from the European Commission to review the existing maximum residue levels…”
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Modification of the existing maximum residue level for flonicamid in honey by Bellisai, Giulia, Bernasconi, Giovanni, Carrasco Cabrera, Luis, Castellan, Irene, Aguila, Monica, Ferreira, Lucien, Greco, Luna, Jarrah, Samira, Leuschner, Renata, Mioč, Andrea, Nave, Stefanie, Reich, Hermine, Ruocco, Silvia, Scarlato, Alessia Pia, Szot, Marta, Taglianini, Elena, Theobald, Anne, Tiramani, Manuela, Verani, Alessia

“…In accordance with Article 6 of Regulation (EC) No 396/2005, the applicant ISK Biosciences Europe N.V. submitted a request to the competent national authority…”
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Modification of the existing maximum residue levels for picloram in animal commodities and honey by Bellisai, Giulia, Bernasconi, Giovanni, Cabrera, Luis Carrasco, Castellan, Irene, Aguila, Monica, Ferreira, Lucien, Greco, Luna, Jarrah, Samira, Leuschner, Renata, Mioč, Andrea, Nave, Stefanie, Reich, Hermine, Ruocco, Silvia, Scarlato, Alessia Pia, Szot, Marta, Theobald, Anne, Tiramani, Manuela, Verani, Alessia, Zioga, Elena

“…In accordance with Article 6 of Regulation (EC) No 396/2005, the applicant Corteva Agriscience International Sàrl submitted a request to the competent national…”
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