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Model organisms for investigating the functional involvement of NRF2 in non-com...

Rojo, Ana I.; Buttari, Brigitta; Cadenas, Susana; Carlos, Ana Rita; Cuadrado, Antonio; Falcão, Ana Sofia; López, Manuela G.; Georgiev, Milen I.

Funding Information: Research in the authors\u2019 laboratories is funded as follows: AIR and AC by the Spanish Ministry of Science, Innovation and Universities (PID2019-110061RB-I00, PID-2021-122766OB-100, PDC2021-121421-I00, PDC2022-133765-I00), CIBERNED/ISCIII (CB06/05/0010), and The Autonomous Community of Madrid (P2022/BMD-7230). MGL is funded by Spanish Ministry of Science, Innovation and Universities (PI...


Targeting Lysosomal Dysfunction and Oxidative Stress in Age-Related Macular Deg...

AS, Falcão; Pedro, Margarida L.; Tenreiro, Sandra; C Seabra, Miguel

Funding Information: The authors acknowledge the support by the European COST Action CA20121: Bench to bedside transition for pharmacological regulation of NRF2 in noncommunicable diseases (BenBedPhar). Webpage: https://benbedphar.org/about-benbedphar/ , accessed on 1 May 2025. Funding Information: Funded by \u201CLa Caixa\u2019 Foundation\u201D under the agreement HR22-00569 NASCENT and by the Research Unit UI...


Model organisms for investigating the functional involvement of NRF2 in non-com...

Rojo, AI; Buttari, B; Cadenas, S; Carlos, AR; Cuadrado, A; AS, Falcão; López, MG; Georgiev, MI; Grochot-Przeczek, A; Gumeni, S; Jiménez-Villegas, J


Loss of REP-1 in retinal pigment epithelial cells leads to impaired phagosome p...

Coelho, Rita; Antas, Pedro; Fonseca, Ana Fragoso; Oliveira, Daniela; Carvalho, Cláudia; Pedro, Margarida L.; J. Hall, Michael; AS, Falcão

Choroideremia (CHM) is a rare form of retinal degeneration caused by mutations in the ubiquitously expressed CHM gene, encoding for Rab escort-protein-1 (REP-1). REP-1 is required for the prenylation of Rab GTPase proteins, regulators of intracellular membrane traffic, yet what specific cellular pathways are affected in CHM and how this contributes to disease progression remain unclear. Using both ARPE-19 and i...


Daily Light Onset and Plasma Membrane Tethers Regulate Mitochondria Redistribut...

Neto, Matilde V.; De Rossi, Giulia; Berkowitz, Bruce A.; C Seabra, Miguel; Luthert, Philip J.; Futter, Clare E.; Burgoyne, Thomas

Funding Information: This work was funded by the MRC (MR/X020827/1) awarded to T.B., Wellcome Trust (212216/Z/18/Z) awarded to C.E.F., National Institutes of Health (RO1\u2019s AG058171, AG081981, EY034309) awarded to B.A.B and Diabetes UK fellowship (23/0006514) and Moorfields Eye Charity fellowship (GR001526) award to G.D.R. Publisher Copyright: © 2024 by the authors.; The retinal pigment epithelium (RPE) is ...


Toward low-cost gene therapy

Antas, Pedro; Carvalho, Cláudia; Cabral-Teixeira, Joaquim; de Lemos, Luísa; C Seabra, Miguel

Inherited retinal diseases (IRDs) stem from genetic mutations that result in vision impairment. Gene therapy shows promising therapeutic potential, exemplified by the encouraging initial results with voretigene neparvovec. Nevertheless, the associated costs impede widespread access, particularly in low-to-middle income countries. The primary challenge remains: how can we make these therapies globally affordable...


Modelling neurodegeneration and inflammation in early diabetic retinopathy usin...

de Lemos, Luisa; Antas, Pedro; Ferreira, Inês S; Santos, Inês Paz; Felgueiras, Beatriz; Gomes, Catarina Monteiro; Brito, Catarina; C Seabra, Miguel

PURPOSE: Diabetic retinopathy (DR) is a complication of diabetes and a primary cause of visual impairment amongst working-age individuals. DR is a degenerative condition in which hyperglycaemia results in morphological and functional changes in certain retinal cells. Existing treatments mainly address the advanced stages of the disease, which involve vascular defects or neovascularization. However, it is now kn...


Modeling Choroideremia Disease with Isogenic Induced Pluripotent Stem Cells

Fonseca, Ana Fragoso; Coelho, Rita; Lopes-Da-Silva, Mafalda; Lemos, Luísa; Hall, Michael J.; Oliveira, Daniela; Falcão, Ana Sofia; Tenreiro, Sandra

Funding Information: The authors declare financial support was received for the research, authorship, and/or publication of this article. Research was supported by Funda\u00E7\u00E3o para a Ci\u00EAncia e Tecnologia (FCT)\u2014Portugal (including iNOVA4Health projects UIDB/04462/2020, UIDP/04462/2020, and associated laboratory LS4FUTURE with reference LA/P/0087/2020). A.F.F. is funded by FCT PhD studentship (20...


Age-Related Changes of the Synucleins Profile in the Mouse Retina

Dias, Sarah Batista; de Lemos, Luísa; Sousa, Luís; Bitoque, Diogo B.; Silva, Gabriela Araújo; C Seabra, Miguel; Tenreiro, Sandra

Funding Information: This research was funded by Fundação para a Ciência e a Tecnologia, grant number PTDC/MED-PAT/29656/2017. L.S. was funded by FCT PhD studentship (SFRH/BD/144743). Additionally, it was supported by iNOVA4Health—UIDB/04462/2020 and UIDP/04462/2020 and by the Associated Laboratory LS4FUTURE (LA/P/0087/2020), two programs financially supported by Fundação para a Ciência e Tecnologia/Ministério ...


Genipin prevents alpha-synuclein aggregation and toxicity by affecting endocyto...

Rosado-Ramos, Rita; Poças, Gonçalo M.; Marques, Daniela; Foito, Alexandre; M Sevillano, David; Lopes-da-Silva, Mafalda; Gonçalves, Luís G.

Parkinson's Disease (PD) is a common neurodegenerative disorder affecting millions of people worldwide for which there are only symptomatic therapies. Small molecules able to target key pathological processes in PD have emerged as interesting options for modifying disease progression. We have previously shown that a (poly)phenol-enriched fraction (PEF) of Corema album L. leaf extract modulates central events in...


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