Zobrazeno 1 - 10
of 120
pro vyhledávání: '"Gemma Marfany"'
Autor:
Izarbe Aísa-Marín, Quirze Rovira, Noelia Díaz, Laura Calvo-López, Juan M. Vaquerizas, Gemma Marfany
Publikováno v:
Neurobiology of Disease, Vol 194, Iss , Pp 106463- (2024)
Mutations in NR2E3, a gene encoding an orphan nuclear transcription factor, cause two retinal dystrophies with a distinct phenotype, but the precise role of NR2E3 in rod and cone transcriptional networks remains unclear. To dissect NR2E3 function, we
Externí odkaz:
https://doaj.org/article/4b20d1218f04487b9cb26700edb5e32e
Autor:
Noelia Baz-Redón, Laura Sánchez-Bellver, Mónica Fernández-Cancio, Sandra Rovira-Amigo, Thomas Burgoyne, Rai Ranjit, Virginia Aquino, Noemí Toro-Barrios, Rosario Carmona, Eva Polverino, Maria Cols, Antonio Moreno-Galdó, Núria Camats-Tarruella, Gemma Marfany
Publikováno v:
Cells, Vol 13, Iss 6, p 524 (2024)
We report a novel RPGR missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant, but only the proband presented with primary ciliary dyskinesia (PCD). Thus, we aimed to el
Externí odkaz:
https://doaj.org/article/b269912dace343959872be6b3a0e8664
Autor:
Rocío García-Arroyo, Elena B. Domènech, Carlos Herrera-Úbeda, Miguel A. Asensi, Cristina Núñez de Arenas, José M. Cuezva, Jordi Garcia-Fernàndez, Federico V. Pallardó, Serena Mirra, Gemma Marfany
Publikováno v:
Redox Biology, Vol 66, Iss , Pp 102862- (2023)
The retina is particularly vulnerable to genetic and environmental alterations that generate oxidative stress and cause cellular damage in photoreceptors and other retinal neurons, eventually leading to cell death. CERKL (CERamide Kinase-Like) mutati
Externí odkaz:
https://doaj.org/article/3956c7ada76a466f93445df60c4c46ff
Autor:
Pablo Barbeito, Raquel Martin-Morales, Adrian Palencia-Campos, Juan Cerrolaza, Celia Rivas-Santos, Leticia Gallego-Colastra, Jose Antonio Caparros-Martin, Carolina Martin-Bravo, Ana Martin-Hurtado, Laura Sánchez-Bellver, Gemma Marfany, Victor L. Ruiz-Perez, Francesc R. Garcia-Gonzalo
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that
Externí odkaz:
https://doaj.org/article/a86e27311a0c49f7aeba15c269909a16
Autor:
Vasileios Toulis, Ricardo Casaroli-Marano, Anna Camós-Carreras, Marc Figueras-Roca, Bernardo Sánchez-Dalmau, Esteban Muñoz, Naila S. Ashraf, Ana F. Ferreira, Naheed Khan, Gemma Marfany, Maria do Carmo Costa
Publikováno v:
Neurobiology of Disease, Vol 170, Iss , Pp 105774- (2022)
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by expansion of a polyglutamine (polyQ)-encoding CAG repeat in the ATXN3 gene. Because the ATXN3 protein regulates photoreceptor ciliogenesis and phagocyt
Externí odkaz:
https://doaj.org/article/16e1917173894953a87d0a6f2bbebd88
Autor:
Enrique Navas-Pérez, Cristina Vicente-García, Serena Mirra, Demian Burguera, Noèlia Fernàndez-Castillo, José Luis Ferrán, Macarena López-Mayorga, Marta Alaiz-Noya, Irene Suárez-Pereira, Ester Antón-Galindo, Fausto Ulloa, Carlos Herrera-Úbeda, Pol Cuscó, Rafael Falcón-Moya, Antonio Rodríguez-Moreno, Salvatore D’Aniello, Bru Cormand, Gemma Marfany, Eduardo Soriano, Ángel M. Carrión, Jaime J. Carvajal, Jordi Garcia-Fernàndez
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-27 (2020)
Abstract Background One of the most unusual sources of phylogenetically restricted genes is the molecular domestication of transposable elements into a host genome as functional genes. Although these kinds of events are sometimes at the core of key m
Externí odkaz:
https://doaj.org/article/fedd01eb02c446829d850715c9b40a40
Autor:
Ahmed Salman, Ariel Kantor, Michelle E. McClements, Gemma Marfany, Sonia Trigueros, Robert E. MacLaren
Publikováno v:
Pharmaceutics, Vol 14, Iss 9, p 1842 (2022)
The discovery of the CRISPR/Cas system and its development into a powerful genome engineering tool have revolutionized the field of molecular biology and generated excitement for its potential to treat a wide range of human diseases. As a gene therap
Externí odkaz:
https://doaj.org/article/50adf3640e404988a1650856e0754005
Autor:
Serena Mirra, Rocío García-Arroyo, Elena B. Domènech, Aleix Gavaldà-Navarro, Carlos Herrera-Úbeda, Clara Oliva, Jordi Garcia-Fernàndez, Rafael Artuch, Francesc Villarroya, Gemma Marfany
Publikováno v:
Neurobiology of Disease, Vol 156, Iss , Pp 105405- (2021)
The retina is a highly active metabolic organ that displays a particular vulnerability to genetic and environmental factors causing stress and homeostatic imbalance. Mitochondria constitute a bioenergetic hub that coordinates stress response and cell
Externí odkaz:
https://doaj.org/article/0690107645da4812a47e1d8b7f822eff
Autor:
Gemma Marfany
Publikováno v:
Revista de Bioética y Derecho, Vol 47, Pp 17-31 (2019)
La tecnología de la edición génica por CRISPR ha revolucionado tanto la investigación en biotecnología como en biomedicina. Esta técnica tan poderosa y versátil permite editar los genes de cualquier especie a la carta. A pesar de su potencia y
Externí odkaz:
https://doaj.org/article/02e4931c08ae44ff978acb335db6fbfd
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Ciliopathies are a group of heterogeneous inherited disorders associated with dysfunction of the cilium, a ubiquitous microtubule-based organelle involved in a broad range of cellular functions. Most ciliopathies are syndromic, since several organs w
Externí odkaz:
https://doaj.org/article/26dcabb7d5794c1da7d611c45605966d