283 results on '"Marfany, Gemma"'
Search Results
2. Exacerbated response to oxidative stress in the Retinitis Pigmentosa CerklKD/KO mouse model triggers retinal degeneration pathways upon acute light stress
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García-Arroyo, Rocío, Domènech, Elena B., Herrera-Úbeda, Carlos, Asensi, Miguel A., Núñez de Arenas, Cristina, Cuezva, José M., Garcia-Fernàndez, Jordi, Pallardó, Federico V., Mirra, Serena, and Marfany, Gemma
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- 2023
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3. Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene
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Baz-Redón, Noelia, primary, Sánchez-Bellver, Laura, additional, Fernández-Cancio, Mónica, additional, Rovira-Amigo, Sandra, additional, Burgoyne, Thomas, additional, Ranjit, Rai, additional, Aquino, Virginia, additional, Toro-Barrios, Noemí, additional, Carmona, Rosario, additional, Polverino, Eva, additional, Cols, Maria, additional, Moreno-Galdó, Antonio, additional, Camats-Tarruella, Núria, additional, and Marfany, Gemma, additional
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- 2024
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4. A mammalian-specific Alex3/Gα q protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival
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Izquierdo-Villalba, Ismael, primary, Mirra, Serena, additional, Manso, Yasmina, additional, Parcerisas, Antoni, additional, Rubio, Javier, additional, Del Valle, Jaume, additional, Gil-Bea, Francisco J., additional, Ulloa, Fausto, additional, Herrero-Lorenzo, Marina, additional, Verdaguer, Ester, additional, Benincá, Cristiane, additional, Castro-Torres, Rubén D., additional, Rebollo, Elena, additional, Marfany, Gemma, additional, Auladell, Carme, additional, Navarro, Xavier, additional, Enríquez, José A., additional, López de Munain, Adolfo, additional, Soriano, Eduardo, additional, and Aragay, Anna M., additional
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- 2024
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5. From Beach to the Bedside: Harnessing Mitochondrial Function in Human Diseases Using New Marine-Derived Strategies
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Mirra, Serena, primary and Marfany, Gemma, additional
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- 2024
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6. By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System
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Toulis, Vasileios, Marfany, Gemma, Crusio, Wim E., Series Editor, Lambris, John D., Series Editor, Radeke, Heinfried H., Series Editor, Rezaei, Nima, Series Editor, Barrio, Rosa, editor, Sutherland, James D., editor, and Rodriguez, Manuel S., editor
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- 2020
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7. Mitochondrial Gymnastics in Retinal Cells: A Resilience Mechanism Against Oxidative Stress and Neurodegeneration
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Mirra, Serena, Marfany, Gemma, Crusio, Wim E., Series Editor, Lambris, John D., Series Editor, Radeke, Heinfried H., Series Editor, Rezaei, Nima, Series Editor, Bowes Rickman, Catherine, editor, Grimm, Christian, editor, Anderson, Robert E., editor, Ash, John D., editor, LaVail, Matthew M., editor, and Hollyfield, Joe G., editor
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- 2019
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8. Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies
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Gonzàlez-Duarte, Roser, de Castro-Miró, Marta, Tuson, Miquel, Ramírez-Castañeda, Valeria, Gils, Rebeca Valero, Marfany, Gemma, Crusio, Wim E., Series Editor, Lambris, John D., Series Editor, Radeke, Heinfried H., Series Editor, Rezaei, Nima, Series Editor, Bowes Rickman, Catherine, editor, Grimm, Christian, editor, Anderson, Robert E., editor, Ash, John D., editor, LaVail, Matthew M., editor, and Hollyfield, Joe G., editor
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- 2019
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9. A mammalian-specific Alex3/Gαq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival.
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Izquierdo-Villalba, Ismael, Mirra, Serena, Manso, Yasmina, Parcerisas, Antoni, Rubio, Javier, Del Valle, Jaume, Gil-Bea, Francisco J., Ulloa, Fausto, Herrero-Lorenzo, Marina, Verdaguer, Ester, Benincá, Cristiane, Castro-Torres, Rubén D., Rebollo, Elena, Marfany, Gemma, Auladell, Carme, Navarro, Xavier, Enríquez, José A., López de Munain, Adolfo, Soriano, Eduardo, and Aragay, Anna M.
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AMPA receptors ,MOLECULAR motor proteins ,MITOCHONDRIAL proteins ,G protein coupled receptors ,MITOCHONDRIA ,HEAT shock proteins ,MOTOR neurons ,WNT signal transduction - Abstract
Mitochondrial dynamics and trafficking are essential to provide the energy required for neurotransmission and neural activity. We investigated how G protein–coupled receptors (GPCRs) and G proteins control mitochondrial dynamics and trafficking. The activation of Gα
q inhibited mitochondrial trafficking in neurons through a mechanism that was independent of the canonical downstream PLCβ pathway. Mitoproteome analysis revealed that Gαq interacted with the Eutherian-specific mitochondrial protein armadillo repeat–containing X-linked protein 3 (Alex3) and the Miro1/Trak2 complex, which acts as an adaptor for motor proteins involved in mitochondrial trafficking along dendrites and axons. By generating a CNS-specific Alex3 knockout mouse line, we demonstrated that Alex3 was required for the effects of Gαq on mitochondrial trafficking and dendritic growth in neurons. Alex3-deficient mice had altered amounts of ER stress response proteins, increased neuronal death, motor neuron loss, and severe motor deficits. These data revealed a mammalian-specific Alex3/Gαq mitochondrial complex, which enables control of mitochondrial trafficking and neuronal death by GPCRs. Editor's summary: The elongated morphology of neurons means that mitochondria must be trafficked over long distances to support energy-intensive processes in multiple subcellular compartments. Izquierdo-Villalba et al. found that mitochondrial trafficking in neurons required the interaction of the G protein Gαq with the mitochondrial protein Alex3. Gαq enhanced the binding of Alex3 to mitochondrial trafficking proteins that mediate anterograde traffic. Expression of a constitutively active form of Gαq in neurons from mice with a CNS-specific deficiency in Alex3 revealed that Gαq was necessary for the role of Alex3 in mitochondrial trafficking and distribution and dendritic arborization. These results raise the intriguing possibility that the activity of Gαq -coupled receptors can affect mitochondrial trafficking in neurons through the Gαq /Alex3 complex. —Wei Wong [ABSTRACT FROM AUTHOR]- Published
- 2024
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10. EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO
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Barbeito, Pablo, primary, Martin-Morales, Raquel, additional, Palencia-Campos, Adrian, additional, Cerrolaza, Juan, additional, Rivas-Santos, Celia, additional, Gallego-Colastra, Leticia, additional, Caparros-Martin, Jose Antonio, additional, Martin-Bravo, Carolina, additional, Martin-Hurtado, Ana, additional, Sánchez-Bellver, Laura, additional, Marfany, Gemma, additional, Ruiz-Perez, Victor L., additional, and Garcia-Gonzalo, Francesc R., additional
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- 2023
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11. By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System
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Toulis, Vasileios, primary and Marfany, Gemma, additional
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- 2020
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12. Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions
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Navas-Pérez, Enrique, Vicente-García, Cristina, Mirra, Serena, Burguera, Demian, Fernàndez-Castillo, Noèlia, Ferrán, José Luis, López-Mayorga, Macarena, Alaiz-Noya, Marta, Suárez-Pereira, Irene, Antón-Galindo, Ester, Ulloa, Fausto, Herrera-Úbeda, Carlos, Cuscó, Pol, Falcón-Moya, Rafael, Rodríguez-Moreno, Antonio, D’Aniello, Salvatore, Cormand, Bru, Marfany, Gemma, Soriano, Eduardo, Carrión, Ángel M., Carvajal, Jaime J., and Garcia-Fernàndez, Jordi
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- 2020
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13. Mitochondrial Gymnastics in Retinal Cells: A Resilience Mechanism Against Oxidative Stress and Neurodegeneration
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Mirra, Serena, primary and Marfany, Gemma, additional
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- 2019
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14. Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies
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Gonzàlez-Duarte, Roser, primary, de Castro-Miró, Marta, additional, Tuson, Miquel, additional, Ramírez-Castañeda, Valeria, additional, Gils, Rebeca Valero, additional, and Marfany, Gemma, additional
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- 2019
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15. Assessing diversity in multiplex networks
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Carpi, Laura C., Schieber, Tiago A., Pardalos, Panos M., Marfany, Gemma, Masoller, Cristina, Díaz-Guilera, Albert, and Ravetti, Martín G.
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- 2019
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16. The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3
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Sánchez-Bellver, Laura, primary, Férriz-Gordillo, Andrea, additional, Carrillo-Pz, Marc, additional, Rabanal, Laura, additional, Garcia-Gonzalo, Francesc R., additional, and Marfany, Gemma, additional
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- 2022
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17. High-Throughput Approaches for the Genetic Diagnosis of Retinal Dystrophies
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Pomares, Esther, Marfany, Gemma, Gonzàlez-Duarte, Roser, LaVail, Matthew M., editor, Ash, John D., editor, Anderson, Robert E., editor, Hollyfield, Joe G., editor, and Grimm, Christian, editor
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- 2012
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18. CERKL, a Retinal Dystrophy Gene, Regulates Mitochondrial Transport and Dynamics in Hippocampal Neurons
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García-Arroyo, Rocío, primary, Marfany, Gemma, additional, and Mirra, Serena, additional
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- 2022
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19. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2
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Castilla-Vallmanya, Laura, primary, Centeno-Pla, Mónica, additional, Serrano, Mercedes, additional, Franco-Valls, Héctor, additional, Martínez-Cabrera, Raúl, additional, Prat-Planas, Aina, additional, Rojano, Elena, additional, Ranea, Juan A G, additional, Seoane, Pedro, additional, Oliva, Clara, additional, Paredes-Fuentes, Abraham J, additional, Marfany, Gemma, additional, Artuch, Rafael, additional, Grinberg, Daniel, additional, Rabionet, Raquel, additional, Balcells, Susanna, additional, and Urreizti, Roser, additional
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- 2022
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20. Non-Viral Delivery of CRISPR/Cas Cargo to the Retina Using Nanoparticles: Current Possibilities, Challenges, and Limitations
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Salman, Ahmed, primary, Kantor, Ariel, additional, McClements, Michelle E., additional, Marfany, Gemma, additional, Trigueros, Sonia, additional, and MacLaren, Robert E., additional
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- 2022
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21. Ubiquitin Specific Protease USP48 Destabilizes NF-κB/p65 in Retinal Pigment Epithelium Cells
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Mirra, Serena, primary, Sánchez-Bellver, Laura, additional, Casale, Carmela, additional, Pescatore, Alessandra, additional, and Marfany, Gemma, additional
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- 2022
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22. Altered retinal structure and function in Spinocerebellar ataxia type 3
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Toulis, Vasileios, primary, Casaroli-Marano, Ricardo, additional, Camós-Carreras, Anna, additional, Figueras-Roca, Marc, additional, Sánchez-Dalmau, Bernardo, additional, Muñoz, Esteban, additional, Ashraf, Naila S., additional, Ferreira, Ana F., additional, Khan, Naheed, additional, Marfany, Gemma, additional, and Costa, Maria do Carmo, additional
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- 2022
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23. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
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Castilla-Vallmanya, Laura, Centeno-Pla, Mónica, Serrano, Mercedes, Franco-Valls, Héctor, Martínez-Cabrera, Raúl, Prat-Planas, Aina, Rojano, Elena, Ranea, Juan A. G., Seoane, Pedro, Oliva, Clara, Paredes-Fuentes, Abraham J., Marfany, Gemma, Artuch, Rafael, Grinberg, Daniel, Rabionet, Raquel, Balcells, Susanna, and Urreizti, Roser
- Abstract
Background Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi syndrome. MAGEL2 plays a role in retrograde transport and protein recycling regulation. Our aim is to contribute to the characterisation of SYS pathophysiology at clinical, genetic and molecular levels. Methods We performed an extensive phenotypic and mutational revision of previously reported patients with SYS. We analysed the secretion levels of amyloid-ß 1-40 peptide (Aß1-40) and performed targeted metabolomic and transcriptomic profiles in fibroblasts of patients with SYS (n=7) compared with controls (n=11). We also transfected cell lines with vectors encoding wild-type (WT) or mutated MAGEL2 to assess stability and subcellular localisation of the truncated protein. Results Functional studies show significantly decreased levels of secreted Aß1-40 and intracellular glutamine in SYS fibroblasts compared with WT. We also identified 132 differentially expressed genes, including non-coding RNAs (ncRNAs) such as HOTAIR, and many of them related to developmental processes and mitotic mechanisms. The truncated form of MAGEL2 displayed a stability similar to the WT but it was significantly switched to the nucleus, compared with a mainly cytoplasmic distribution of the WT MAGEL2. Based on the updated knowledge, we offer guidelines for the clinical management of patients with SYS. Conclusion A truncated MAGEL2 protein is stable and localises mainly in the nucleus, where it might exert a pathogenic neomorphic effect. Aß1-40 secretion levels and HOTAIR mRNA levels might be promising biomarkers for SYS. Our findings may improve SYS understanding and clinical management. [ABSTRACT FROM AUTHOR]
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- 2023
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24. Ceramide, Ceramide Kinase and Vision Defects: A BLIND Spot for LIPIDS
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Gonzàlez-Duarte, Roser, Tuson, Miquel, Marfany, Gemma, Hirabayashi, Yoshio, editor, Igarashi, Yasuyuki, editor, and Merrill, Alfred H., Jr., editor
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- 2006
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25. Combining Zebrafish and Mouse Models to Test the Function of Deubiquitinating Enzyme (Dubs) Genes in Development: Role of USP45 in the Retina
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Toulis, Vasileios, primary, Garanto, Alejandro, additional, and Marfany, Gemma, additional
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- 2016
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26. Stepwise assembly of the Nova-regulated alternative splicing network in the vertebrate brain
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Irimia, Manuel, Denuc, Amanda, Burguera, Demián, Somorjai, Ildiko, Martin-Durán, Jose M., Genikhovich, Grigory, Jimenez-Delgado, Senda, Technau, Ulrich, Roy, Scott W., Marfany, Gemma, Garcia-Fernàndez, Jordi, and Guthrie, Christine
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- 2011
27. Overexpression of CERKL Protects Retinal Pigment Epithelium Mitochondria from Oxidative Stress Effects
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García-Arroyo, Rocío, primary, Gavaldà-Navarro, Aleix, additional, Villarroya, Francesc, additional, Marfany, Gemma, additional, and Mirra, Serena, additional
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- 2021
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28. A novel Alex3/Gαq protein complex regulating mitochondrial dynamics, dendritic complexity, and neuronal survival
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Izquierdo-Villalba, Ismael, primary, Mirra, Serena, additional, Manso, Yasmina, additional, Parcerisas, Antoni, additional, Rubio, Javier, additional, Del Valle, Jaume, additional, Gil-Bea, Francisco J., additional, Ulloa, Fausto, additional, Herrero-Lorenzo, Marina, additional, Verdaguer, Ester, additional, Benincá, Cristiane, additional, Castro-Torres, Rubén D., additional, Rebollo, Elena, additional, Marfany, Gemma, additional, Auladell, Carme, additional, Navarro, Xavier, additional, Enríquez, José A., additional, de Munain, Adolfo López, additional, Aragay, Anna M., additional, and Soriano, Eduardo, additional
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- 2021
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29. The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes
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Villanueva-Mendoza, Cristina, primary, Tuson, Miquel, additional, Apam-Garduño, David, additional, de Castro-Miró, Marta, additional, Tonda, Raul, additional, Trotta, Jean Remi, additional, Marfany, Gemma, additional, Valero, Rebeca, additional, Cortés-González, Vianney, additional, and Gonzàlez-Duarte, Roser, additional
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- 2021
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30. CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina
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Mirra, Serena, primary, García-Arroyo, Rocío, additional, B. Domènech, Elena, additional, Gavaldà-Navarro, Aleix, additional, Herrera-Úbeda, Carlos, additional, Oliva, Clara, additional, Garcia-Fernàndez, Jordi, additional, Artuch, Rafael, additional, Villarroya, Francesc, additional, and Marfany, Gemma, additional
- Published
- 2021
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31. On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies
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Sánchez-Bellver, Laura, primary, Toulis, Vasileios, additional, and Marfany, Gemma, additional
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- 2021
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32. The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease
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Aísa-Marín, Izarbe, primary, García-Arroyo, Rocío, additional, Mirra, Serena, additional, and Marfany, Gemma, additional
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- 2021
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33. Additional file 2 of Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions
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Navas-Pérez, Enrique, Vicente-García, Cristina, Mirra, Serena, Demian Burguera, Noèlia Fernàndez-Castillo, Ferrán, José Luis, López-Mayorga, Macarena, Alaiz-Noya, Marta, Suárez-Pereira, Irene, Antón-Galindo, Ester, Ulloa, Fausto, Herrera-Úbeda, Carlos, Cuscó, Pol, Falcón-Moya, Rafael, Rodríguez-Moreno, Antonio, D’Aniello, Salvatore, Bru Cormand, Marfany, Gemma, Soriano, Eduardo, Carrión, Ángel M., Carvajal, Jaime J., and Garcia-Fernàndez, Jordi
- Abstract
Additional file 2. Review history.
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- 2020
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34. Additional file 1 of Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions
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Navas-Pérez, Enrique, Vicente-García, Cristina, Mirra, Serena, Demian Burguera, Noèlia Fernàndez-Castillo, Ferrán, José Luis, López-Mayorga, Macarena, Alaiz-Noya, Marta, Suárez-Pereira, Irene, Antón-Galindo, Ester, Ulloa, Fausto, Herrera-Úbeda, Carlos, Cuscó, Pol, Falcón-Moya, Rafael, Rodríguez-Moreno, Antonio, D’Aniello, Salvatore, Bru Cormand, Marfany, Gemma, Soriano, Eduardo, Carrión, Ángel M., Carvajal, Jaime J., and Garcia-Fernàndez, Jordi
- Abstract
Additional file 1: Fig. S1 The Tceal7 gene is derived from the domestication of L1 retrotransposon fragments. Fig. S2 The Bex/Tceal gene cluster was established before the diversification of extant eutherians. Fig. S3 Highly diverged BEX/TCEAL proteins share a coiled coil domain. Fig. S4 BEX/TCEAL proteins might have inherited some of their structural properties from the ancestral transposon. Fig. S5 Selection pressure analyses reveal signatures of positive selection in the Bex/Tceal genes. Fig. S6 A BGW-like sequence was already present in the GLA promoter of the last therian common ancestor. Fig. S7 Bex/Tceal genes show tissue-enriched expression patterns during development. Fig. S8 Bex3 and Tceal7 genes, but not the ancestral HALEX element, induce cell proliferation in chicken neural tube. Fig. S9 The deletions introduced using CRISPR-Cas9 technology can be observed in the mRNA expressed from the Bex3 mutant alleles. Fig. S10 CRISPR-Cas9-generated Bex3 mutant alleles show subtle skull abnormalities. Fig. S11 Bex3 mutant mice show normal acoustic startle reflex. Fig. S12 Bex3 deficiency leads to aberrant mTOR signaling in the brain. Table S1 Coding genes putatively derived from transposable elements in the human and mouse genomes. Table S2 Altered expression of BEX and TCEAL genes in subjects with autism spectrum disorder or schizophrenia. Table S3 Enrichment of differential gene expression in BEX and TCEAL gene families in subjects with autism spectrum disorder or schizophrenia. Table S4 Primers and reconstructed gene sequences used in this work. Supplementary references.
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- 2020
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35. Pautes per avaluar projectes de recerca i innovació en salut que utilitzin tecnologies emergents i dades personals
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de Lecuona, Itziar, Bertrán, María Jesús, Bórquez, Blanca, Cabré, Lluís, Casado, María, Corcoy, Mirentxu, Dobernig, Mariana, Estévez, Fernando, García López, Fernando, Gómez, Begoña, Humet, Carlos, Jaume-Palasí, Lorena, Lamm, Eleonora, Leyton, Fabiola, Jesús López Baroni, Manuel, López de Mántaras, Ramón, Luna, Florencia, Marfany, Gemma, Martínez-Montauti, Joaquim, Mautone, Mariela, Melamed, Irene, Méndez, Míriam, Navarro-Michel, Mónica, Plana, Maria José, Riba, Neus, Rodríguez, Germán, Rubió, Robert, Santaló, Josepó, and Subías, Paula
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Recht ,Life Science ,Law Group - Abstract
Los intereses de la ciencia, la tecnología y la sociedad no deben prevalecer sobre los del individuo. Asegurar este principio es una de las tareas de los comités de ética de la investigación (CEI), unos órganos colegiados interdisciplinarios establecidos por la ley que analizan la validez científica de las investigaciones y su valor social, y que ponderan los derechos e intereses en juego. En los últimos años se ha visto como la labor de los CEI se ampliaba: ya no solo evalúan ensayos clínicos con medicamentos y productos sanitarios, sino que también analizan proyectos en los que se aplican tecnologías emergentes como la inteligencia artificial, los datos masivos, la biometría o la realidad virtual, entre otras. En este contexto, el Grupo de Opinión del Observatorio de Bioética y Derecho - Cátedra UNESCO de Bioética de la Universidad de Barcelona (OBD) ha publicado el documento Pautas para evaluar proyectos de investigación e innovación en salud que utilicen tecnologías emergentes y datos personales, donde se tratan los retos, las cuestiones no resueltas y los problemas que suscitan los proyectos de investigación e innovación en salud.
- Published
- 2020
36. Interrogants i reptes actuals de l'edició genètica
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Marfany, Gemma
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terapia génica ,gene editing ,impulso génico ,gene therapy ,edición génica ,germinal cells ,impuls gènic ,edició gènica ,modificació genètica ,genetic modification ,gene drive ,modificación genética ,teràpia gènica ,células germinales ,cèl·lules germinals - Abstract
Resumen 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 efectividad, quedan muchas cuestiones para resolver y controlar su resultado final, particularmente en las aplicaciones sobre el genoma de los seres humanos. En este artículo se plantean tanto los puntos fuertes y puntos débiles de la técnica, como otras cuestiones abiertas sobre la edición génica, sobre si debe dirigirse a la terapia o a la mejora, si la modificación debe constreñirse a células somáticas o también a editar a embriones, modificando el genoma de los seres humanos del futuro. Abstract Gene editing using CRISPR has completely revolutionized the research in biotechnology and biomedicine. This powerful and versatile technique enables the precise edition of genes from any organism. Even though the technique is so effective and amenable, many questions remain to be solved before the final genetic outcome can be fully controlled, particularly in its uses on the human genome. In this article, I discuss the current strengths and weaknesses of the technique. I also pose other open questions on gene editing, such as whether it should be used for either therapy or genetic enhancement, and whether it should be used only on somatic cells or also for embryo gene editing, the latter resulting in the modification of future human beings. Resum La tecnologia de l'edició gènica mitjançant CRISPR ha revolucionat tant la recerca en biotecnologia com en biomedicina. Aquesta tècnica tan poderosa i versàtil permet editar els gens de qualsevol espècie a la carta. Malgrat la seva potència i efectivitat, queden moltes qüestions per resoldre i controlar el seu resultat final, particularment en les aplicacions sobre el genoma dels éssers humans. En aquest article es plantegen els punts forts i els punts febles de la tècnica, així com altres qüestions obertes sobre l'edició gènica, si ha de dirigir-se a la teràpia o a la millora, si la modificació ha de constrènyer-se a cèl·lules somàtiques o també es poden editar en embrions, modificant el genoma dels éssers humans del futur.
- Published
- 2019
37. Expression of deubiquitinating enzyme genes in the developing mammal retina
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Esquerdo-Barragan, Mariona, Brooks, Matthew J., VASILEIOS TOULIS, Swaroop, Anand, and Marfany, Gemma
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Mammals ,Deubiquitinating Enzymes ,genetic structures ,Gene Expression Regulation, Developmental ,Gene Expression Regulation, Enzymologic ,Retina ,Retinal diseases ,Mice ,Fetus ,Malalties de la retina ,Animals ,Humans ,sense organs ,Transcriptome ,Mamífers ,Research Article ,Photoreceptor Cells, Vertebrate - Abstract
Purpose: Genes involved in the development and differentiation of the mammalian retina are also associated with inherited retinal dystrophies (IRDs) and age-related macular degeneration. Transcriptional regulation of retinal cell differentiation has been addressed by genetic and transcriptomic studies. Much less is known about the posttranslational regulation of key regulatory proteins, although mutations in some genes involved in ubiquitination and proteostasis E3 ligases and deubiquitinating enzymes (DUBs) cause IRDs. This study intends to provide new data on DUB gene expression during different developmental stages of mouse and human fetal retinas. Methods: We performed a comprehensive transcriptomic analysis of all the annotated human and mouse DUBs (87) in the developing mouse retina at several embryonic and postnatal time points compared with the transcriptome of the fetal human retina. An integrated comparison of data from transcriptomics, reported chromatin immunoprecipitation sequencing (ChIP-seq) of CRX and NRL transcription factors, and the phenotypic retinal alterations in different animal models is presented. Results: Several DUB genes are differentially expressed during the development of the mouse and human retinas in relation to proliferation or differentiation stages. Some DUB genes appear to be distinctly expressed during the differentiation stages of rod and cone photoreceptor cells, and their expression is altered in mouse knockout models of relevant photoreceptor transcription factors. We complemented this RNA-sequencing (RNA-seq) analysis with other reported expression and phenotypic data to underscore the involvement of DUBs in cell fate decision and photoreceptor differentiation. Conclusions: The present results highlight a short list of potential DUB candidates for retinal disorders, which require further study.
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- 2019
38. Ubiquitin-Specific Peptidase 25
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Marfany, Gemma, primary
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- 2013
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39. Contributors
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Abbott, Catherine Anne, primary, Abraham, Carmela R., additional, Adachi, Hideki, additional, Adachi, Osao, additional, Adam, Zach, additional, Adams, Michael W.W., additional, Adang, Michael J., additional, Adham, Ibrahim M., additional, Aducci, Patrizia, additional, Agard, David A., additional, Agranovsky, Alexey A., additional, Akamatsu, Tetsuya, additional, Akiyama, Yoshinori, additional, Albrechtsen, Reidar, additional, Alejo, Alí, additional, Amberg, Sean M., additional, Amerik, Alexander Y., additional, Amparyup, Piti, additional, Andrade, Felipe, additional, Andrés, Germán, additional, Andrews, Daniel M., additional, Andrews, Robert K., additional, Antalis, Toni M., additional, Anthony, Colin S., additional, Aoki, Naoya, additional, Apte, Suneel S., additional, Arima, Kazunari, additional, Arlaud, Gérard, additional, Arni, Raghuvir Krishnaswamy, additional, Arnoux, Pascal, additional, Aronson, Nathan N., additional, Arthur, Michel, additional, Asano, Yasuhisa, additional, Ascenzi, Paolo, additional, Assakura, Marina T., additional, Auld, David S., additional, Ávila, Veridiana de Melo Rodrigues, additional, Avilés, Francesc X., additional, Awad, William M., additional, Bachhawat, Anand K., additional, Bai, Shan, additional, Baird, Teaster T., additional, Bajaj, S. Paul, additional, Baker, Susan C., additional, Banbula, Agnieszka, additional, Barrett, Alan J., additional, Barrowman, Jemima, additional, Bartlett, John D., additional, Bartsch, Jörg W., additional, Baschuk, Nikola, additional, Baskova, Isolda P., additional, Batra, Jyotsna, additional, Bauer, Karl, additional, Baumann, Ulrich, additional, Baumeister, Wolfgang, additional, Bauvois, Cédric, additional, Bayés, Alex, additional, Beauvais, Anne, additional, Becker-Pauly, Christoph, additional, Begley, Tadhg P., additional, Békés, Miklós, additional, Belas, Robert, additional, Beleford, Daniah, additional, Beppu, Teruhiko, additional, Bergmann, Ernst M., additional, Bernard, Bruno A., additional, Bernard, Dominique, additional, Berndt, Michael C., additional, Berruti, Giovanna, additional, Berry, Colin, additional, Bertenshaw, Greg P., additional, Betzel, Christian, additional, Bhaskarla, Chetana, additional, Bhosale, Manoj, additional, Bierbaum, Gabriele, additional, Bjarnason Jón, B., additional, Blaber, Michael, additional, Blackman, Michael J., additional, Blinkovsky, Alexander, additional, Boeke, Jef D., additional, Bogyo, Matthew, additional, Bohn, Stefan, additional, Boileau, Guy, additional, Boland, Mike, additional, Bolken, Tové C., additional, Bond, Judith S., additional, Bondeson, Jan, additional, Bordallo, Javier, additional, Borelli, Claudia, additional, Botelho, Tiago O., additional, Bott, Richard R., additional, Bourne, David G., additional, Bovenschen, Niels, additional, Bradshaw, Ralph A., additional, Breddam, Klaus, additional, Brew, Keith, additional, Brindley, Paul J., additional, Brinkman, Diane L., additional, Britton, Collette, additional, Broadbent, Jeff R., additional, Broadhurst, Anne, additional, Brómme, Dieter, additional, Broom, Murray, additional, Brown, Jeremy S., additional, Brown, Mark A., additional, Bruchhaus, Iris, additional, Burleigh, Barbara A., additional, Burns, Kristin E., additional, Burrows, James F., additional, Butler, Michael J., additional, Buttle, David J., additional, Byrd, Chelsea M., additional, Byun, Tony, additional, Cadel, Sandrine, additional, Caffrey, Conor R., additional, Cal, Santiago, additional, Caldentey, Javier, additional, Candela, Thomas, additional, Capasso, Clemente, additional, Capriogilio, Daniel R., additional, Carginale, Vincenzo, additional, Carmona, Adriana Karaoglanovic, additional, Carruthers, Vern B., additional, Castellino, Francis J., additional, Catanese, Joseph J., additional, Caterson, Bruce, additional, Caughey, George H., additional, Cawley, Naimh X., additional, Cawston, Tim E., additional, Cazzulo, Juan José, additional, Chai, Jijie, additional, Chai, Karl X., additional, Chaim, Olga Meiri, additional, Chang, L.S., additional, Chao, Julie, additional, Chapot-Chartier, Marie-Pierre, additional, Charli, Jean-Louis, additional, Charlier, Paulette, additional, Chave, Karen J., additional, Chen, Jian-Min, additional, Chen, Jinq-May, additional, Chen, Li-Mei, additional, Chen, Ya-Wen, additional, Chen, Yu-Yen, additional, Chevrier, Bernard, additional, Chich, Jean-François, additional, Chien, Jeremy, additional, Chimalapati, Suneeta, additional, Cho, Ki Joon, additional, Choi, Kwan Yong, additional, Chuang, Woei-Jer, additional, Chung, Chin Ha, additional, Chung, Ivy Yeuk Wah, additional, Clamagirand, Christine, additional, Clark, Ian M., additional, Clarke, Adrian K., additional, Clarke, Nicola E., additional, Clarke, Steven Gerard, additional, Clauziat, Philippe, additional, Clements, Judith A., additional, Coffinier, Catherine, additional, Cohen, Paul, additional, Colige, Alain, additional, Collignon, Anne, additional, Colloms, Sean D., additional, Conzelmann, Andreas, additional, Coombs, Graham H., additional, Cooney, Jakki C., additional, Cooper, Jonathan B., additional, Cooper, Max D., additional, Copeland, Nikki A., additional, Cottrell, Graeme S., additional, Coyle, Joseph T., additional, Craik, Charles S., additional, Creemers, John W.M., additional, Cretu, Daniela, additional, Croce, Jenifer, additional, Cross, Keith J., additional, Cueva, Rosario, additional, Cui, Sheng, additional, Cunha, Luis, additional, Cutting, Simon, additional, d’Enfert, Christophe, additional, D’Orchymont, Hugues, additional, Dahlbäck, Björn, additional, Dai, Shujia, additional, Dalbey, Ross E., additional, Dalton, John P., additional, Dando, Pam M., additional, Daniel, R.M., additional, Danilov, Sergei M., additional, Davies, Donna E., additional, De Araujo, Heloisa S., additional, De los Santos, Teresa, additional, de Luca, Viviana, additional, De Meester, Ingrid, additional, de Oliveira, Ana Karina, additional, de Oliveira, Eduardo Brandt, additional, De Oliveira, Pedro Lagerblad, additional, de Vos, Sarah, additional, Declercq, Jeroen, additional, Declercq, Wim, additional, Deghmane, Ala-Eddine, additional, Dekker, Niek, additional, Del Prete, Sonia, additional, Del Rosal, Marina, additional, Delmas, Bernard, additional, DeLotto, Robert, additional, Demidyuk, Ilya V., additional, Denison, Mark R., additional, Deussing, Jan M., additional, Devi, Lakshmi A., additional, Diamandis, Eleftherios P., additional, Diaz, Isabel, additional, Díaz-Perales, Araceli, additional, Dijkstra, Bauke W., additional, Ding, Yan, additional, Dixon, Jack E., additional, Dodt, Johannes, additional, Dokland, Terje, additional, Dolenc, Iztok, additional, Dong, Ningzheng, additional, Dong, Tran Cat, additional, Dong, Ying, additional, Dongre, Mitesh, additional, Donovan, Mark, additional, Dore, Timothy M., additional, Dorstyn, Loretta, additional, Dou, Hong, additional, Dou, Zhicheng, additional, Dougall, Annette M., additional, Drag, Marcin, additional, Dudley, Edward G., additional, Dunn, Ben M., additional, Dupuy, Bruno, additional, Duque-Magalhāes, Maria Conceicāo, additional, Durá, M. Asunción, additional, Eeckhout, Yves, additional, Eijsink, Vincent, additional, Eisen, Arthur Z., additional, Eissa, Azza, additional, Eklund, Sandra, additional, Eletr, Ziad M., additional, Ellis, Vincent, additional, Engel, Wolfgang, additional, Erdös, Ervin G., additional, Escalante, Teresa, additional, Estell, David A., additional, Etscheid, Michael, additional, Evans, Herbert J., additional, Everett, Roger D., additional, Faesen, Alex C., additional, Fahrenholz, Falk, additional, Fanjul-Fernández, Miriam, additional, Farady, Christopher J., additional, Feller, Georges, additional, Feng, Hong, additional, Fenster, Kurt M., additional, Férec, Claude, additional, Ferrari, Silvia, additional, Fingleton, Barbara, additional, Fisher, Jed F., additional, Fives-Taylor, Paula M., additional, Fong, Loren G., additional, Forneris, F., additional, Forster, Brian M., additional, Forster, Friedrich, additional, Foster, Simon J., additional, Foulon, Thierry, additional, Foundling, Stephen I., additional, Fox, Jay William, additional, Franzetti, Bruno, additional, Frasch, Alejandra P., additional, Freeze, Hudson H., additional, Frère, Jean-Marie, additional, Frey, Teryl K., additional, Fricke, Beate, additional, Fricker, Lloyd D., additional, Fridman, Rafael, additional, Froelich, Christopher J., additional, Fröhlich, Camilla, additional, Fu, Hsueh-Liang, additional, Fuhrmann, Cynthia N., additional, Fujimura, Satoshi, additional, Fujiwara, Hiroshi, additional, Fukushima, Jun, additional, Fukuyama, Keiichi, additional, Fuller, Robert S., additional, Fusek, Martin, additional, Gaboriaud, Christine, additional, Gache, Christian, additional, Gakh, Oleksandr, additional, Gal, Peter, additional, Gao, Junjun, additional, García-Sastre, Adolfo, additional, Gardiner, Donald L., additional, Gatehouse, John A., additional, Gaucher, G.M., additional, Gauthier, Francis, additional, Ghuysen, Jean-Marie, additional, Gibson, Wade, additional, Gillies, Jennifer, additional, Glaser, Elzbieta, additional, Glaser, Fabian, additional, Glickman, Michael H., additional, Goettig, Peter, additional, Goffin, Colette, additional, Gohda, Eiichi, additional, Goldberg, Alfred L., additional, Goldberg, Daniel E., additional, Goldberg, Gregory I., additional, Goldfarb, Nathan E., additional, Gomis-Rüth, F. Xavier, additional, Gopal, B., additional, Gorbalenya, Alexander E., additional, Gordon, Stuart G., additional, Gorrell, Mark D., additional, Götz, Friedrich, additional, Goulas, Theodoros, additional, Gouzy-Darmon, Cécile, additional, Govind, K., additional, Gráf, Lászlo, additional, Granados, Robert R., additional, Gräwert, Melissa Ann, additional, Gray, Douglas A., additional, Graycar, Thomas P., additional, Green, Jonathan A., additional, Gremski, Luiza Helena, additional, Groll, Michael, additional, Gromova, Tania Yu, additional, Gros, P., additional, Grubman, Marvin J., additional, Grunden, Amy M., additional, Gudmundsdóttir, Ágústa, additional, Guinand, Micheline, additional, Gully, Djamel, additional, Gustchina, Alla, additional, Gutiérrez, José María, additional, Ha, Byung Hak, additional, Haeggström, Jesper Z., additional, Hageman, James H., additional, Haiko, Johanna, additional, Hailfinger, Stephan, additional, Haitchi, Hans Michael, additional, Han, Ji Seon, additional, Hanquez, Chantal, additional, Harada, Minoru, additional, Hara-Nishimura, Ikuko, additional, Harboe, Marianne, additional, Härd, Torleif, additional, Harris, David A., additional, Hassiepen, Ulrich, additional, Hata, Shoji, additional, Hattori, Akira, additional, He, Rong-Qiao, additional, Heck, Albert J.R., additional, Hendricks, Dirk F., additional, Henrich, Bernhard, additional, Henriet, Patrick, additional, Hernández-Arana, Andrés, additional, Herrera-Camacho, Irma, additional, Heussipp, Gerhard, additional, Hibino, Toshihiko, additional, Hicks, P.M., additional, Hillman, Bradley I., additional, Hiraoka, B. Yukihiro, additional, Hiratake, Jun, additional, Hizukuri, Yohei, additional, Ho, Heng-Chien, additional, Hoa, Ngo Thi, additional, Hochstrasser, Mark, additional, Hodge, Kathryn M., additional, Hofmann, Theo, additional, Hohn, Thomas, additional, Hoidal, John R., additional, Höltje, Joachim-Volker, additional, Homma, Koichi J., additional, Honek, John F., additional, Hook, Vivian Y.H., additional, Hooper, John D., additional, Hooper, Nigel M., additional, Hosoi, Kazuo, additional, Howe, Christopher J., additional, Hruby, Dennis E., additional, Hseih, James J.-D., additional, Hsu, Chun-Chieh, additional, Huang, Tony T., additional, Huang, Tur-Fu, additional, Huet, Yoann, additional, Hughes, Clare, additional, Hugonnet, Jean-Emmanuel, additional, Huston, Adrienne L., additional, Ibrahim-Granet, Oumaïma, additional, Ichishima, Eiji, additional, Ikehara, Yukio, additional, Inagami, Tadashi, additional, Ingram, Jessica, additional, Isaac, R.E., additional, Isaya, Grazia, additional, Isaza, Clara E., additional, Ishii, Shin-ichi, additional, Isnard, Amandine, additional, Ito, Kiyoshi, additional, Ito, Koreaki, additional, Itoh, Yoshifumi, additional, Iturrioz, Xavier, additional, Iwanaga, Sadaaki, additional, Jack, Ralph W., additional, Jackson, Mel C., additional, James, Michael N.G., additional, Janata, Jiří, additional, Janoir, Claire, additional, Janska, Hanna, additional, Jarrell, Ken F., additional, Jaskolski, Mariusz, additional, Jaswal, Sheila S., additional, Jean, Ying Y., additional, Jenne, Dieter E., additional, Jeon, Young Joo, additional, Jiang, Ping, additional, Johnson, John E., additional, Johnson, Michael D., additional, Johnston, James A., additional, Jones, Amanda, additional, Jones, Elizabeth W., additional, Joudiou, Carine, additional, Juliano, Luiz, additional, Jung, Hea-Jin, additional, Jupp, Ray, additional, Kagawa, Todd F., additional, Kalbacher, Hubert, additional, Kamata, Yayoi, additional, Kaminogawa, Shuichi, additional, Kamio, Yoshiyuki, additional, Kaneda, Makoto, additional, Kang, Sung Gyun, additional, Kang, Sung Hwan, additional, Kania, Mary, additional, Kantyka, Tomasz, additional, Kanzawa, Nobuyuki, additional, Karim, Abdulkarim Y., additional, Kasumi, Takafumi, additional, Kataoka, Hiroaki, additional, Kaur, Hardeep, additional, Kawabata, Shun-Ichiro, additional, Kawaguchi, Mari, additional, Kay, John, additional, Kaynar, Murat, additional, Keiler, Kenneth C., additional, Kelly, R.M., additional, Kenton, Nathaniel T., additional, Kerr, Michael A., additional, Kersse, Kristof, additional, Kervinen, Jukka, additional, Kessler, Benedikt M., additional, Kessler, Efrat, additional, Khoronen, Timo K., additional, Kidd, Simon, additional, Kikkert, Marjolein, additional, Kilian, Mogens, additional, Kim, Do-Hyung, additional, Kim, Doyoun, additional, Kim, Eunice EunKyeong, additional, Kim, In Seop, additional, Kim, Jung-Gun, additional, Kim, Kyeong Kyu, additional, Kim, Kyung Hyun, additional, Kimber, Matthew S., additional, Kimura, Yukio, additional, Kirschke, Heidrun, additional, Kiso, Yoshiaki, additional, Kleanthous, Colin, additional, Klein, Jürgen R., additional, Klemba, Michael, additional, Kmiec, Beata, additional, Kobayashi, Hideyuki, additional, Kodama, Hiroyuki, additional, Koelsch, Gerald, additional, Kok, Jan, additional, Kolattukody, P.E., additional, Kolb, Fabrice A., additional, Kolmar, Harald, additional, Komori, Yumiko, additional, Konvalinka, Jan, additional, Korkmaz, Brice, additional, Kostrov, Sergey V., additional, Kräusslich, Hans-Georg, additional, Krczal, Gabi, additional, Kress, Lawrence F., additional, Kristjánsson, Magnüs Már, additional, Kučera, Tomáš, additional, Kukday, Sayali S., additional, Kumagai, Hidehiko, additional, Kumar, Sharad, additional, Kumarasiri, Malika, additional, Kumazaki, Takashi, additional, Kümmerer, Beate M., additional, Kuno, Kouji, additional, Kurkinen, Markku, additional, Kutejová, Eva, additional, Kveiborg, Marie, additional, Kwarciak, Agnieszka, additional, Laakkonen, Liisa, additional, Labrou, Nikolaos E., additional, Laing, Gavin D., additional, Lamppa, Gayle, additional, Langer, Thomas, additional, Laursen, Richard A., additional, Lawrenson, Richard A., additional, Layne, Matthew D., additional, Le Bonniec, Bernard F., additional, Leal, María C., additional, Lechan, Ronald M., additional, Lee, David H., additional, Lee, Irene, additional, Lee, Jae, additional, Lee, Kye Joon, additional, Lee, Soohee, additional, Lei, Xiaobo, additional, Leis, Jonathan, additional, LeMosy, Ellen K., additional, Lepage, Thierry, additional, Leppla, Stephen H., additional, Lesner, Adam, additional, Lessard, Ivan A.D., additional, Lhomond, Guy, additional, Li, Huilin, additional, Li, Shu-Ming, additional, Li, Weiguo, additional, Liao, Ta-Hsiu, additional, Liddington, Robert C., additional, Lieber, Toby, additional, Lijnen, H.R., additional, Lima, Christopher D., additional, Lin, Chen-Yong, additional, Lin, Gang, additional, Lin, Ming T., additional, Lin, Xinli, additional, Lin, Yee-Shin, additional, Lindsay, L.L., additional, Lipscomb, William N., additional, Little, John W., additional, Liu, Ching-Chuan, additional, Liu, Chuan-ju, additional, Lively, Mark O., additional, Livnat-Levanon, Nurit, additional, Ljungdahl, Per O., additional, Llorens-Cortes, Catherine, additional, Lobel, Peter, additional, Loh, Y. Peng, additional, Lohi, Jouko, additional, Lomonossoff, G.P., additional, Looze, Yvan, additional, López-Otin, Carlos, additional, Lopez-Quezada, Landys, additional, Loukas, Alex, additional, Lu, Long-Sheng, additional, Lundwall, Áke, additional, Luo, Liu-Ying, additional, Lupas, Andrei, additional, Luthe, Dawn S., additional, Lynch, Nicholas J., additional, Lyons, Peter J., additional, MacKay, Vivian L., additional, Macleod, Jesica M. Levingston, additional, Magdolen, Viktor, additional, Mainardi, Jean-Luc, additional, Mäkinen, Kauko K., additional, Mallari, Jeremy P., additional, Manandhar, Surya P., additional, Mandelbaum, Fajga R., additional, Manicone, Anne M., additional, Mansfeld, Johanna, additional, Marcotrigiano, Joseph, additional, Mares, Michael, additional, Marfany, Gemma, additional, Markland, Francis S., additional, Marokházi, Judith, additional, Marquis, Hélène, additional, Marr, Robert A., additional, Martegani, Enzo, additional, Martin, Erik W., additional, Martinez, Manuel, additional, Martins, L. Miguel, additional, Maruyama, Masato, additional, Maruyama, Masugi, additional, Maruyama, Sususmu, additional, Masaki, Takeharu, additional, Massoumi, Ramin, additional, Mathew, Rency T., additional, Matrisian, Lynn M., additional, Matsuda, Yoshihiro, additional, Matsushita, Osamu, additional, Matuschek, Marco, additional, Matušková, Anna, additional, Matúz, Krisztina, additional, Mauch, Cornelia, additional, Maurizi, Michael R., additional, Mayr, Lorenz M., additional, McCafferty, Dewey G., additional, McDonald, J. Ken, additional, McKerrow, James H., additional, McMillan, David, additional, Mecham, Robert P., additional, Mehta, Darshini P., additional, Meisinger, Chris, additional, Mellors, Alan, additional, Melton, Roger G., additional, Melvin, Jeffrey A., additional, Ménard, Robert, additional, Menéndez-Arias, Luis, additional, Menezes, Milene C., additional, Mesecar, Andrew, additional, Mesnage, Stéphane, additional, Meyer, Diane H., additional, Meyers, Gregor, additional, Michaelis, Susan, additional, Michalska, Karolina, additional, Mielicki, Wojciech P., additional, Mierau, Igor, additional, Mikoulinskaia, Galina V., additional, Miller, Charles G., additional, Miller, Lydia K., additional, Mills, John, additional, Mills, Kenneth V., additional, Min, Jinrong, additional, Mistou, Michel-Yves, additional, Misumi, Yoshio, additional, Miyoshi, Shin-ichi, additional, Mizutani, Shigehiko, additional, Mobashery, Shahriar, additional, Mochizuki, Satsuki, additional, Mock, William L., additional, Möhrlen, Frank, additional, Moiré, Nathalie, additional, Monahan, Paul E., additional, Moncada-Pazos, Angela, additional, Monnet, Véronique, additional, Monod, Michel, additional, Montecucco, Cesare, additional, Morelli, Laura, additional, Mori, Sumiko, additional, Morita, Takashi, additional, Morrissey, James H., additional, Morse, Richard J., additional, Mort, John S., additional, Mortensen, Uffe H., additional, Morty, Rory E., additional, Moss, Joel, additional, Motoshima, Hidemasa, additional, Mottram, Jeremy C., additional, Moura-da-Silva, Ana M., additional, Mudgett, Mary Beth, additional, Mundt, Egbert, additional, Murakami, Kazuo, additional, Murakami, Mario Tyago, additional, MurakamiMurofoshi, Kimiko, additional, Murao, Sawao, additional, Murphy, Gillian, additional, Murthy, M.R.N., additional, Muta, Tatsushi, additional, Myburgh, Elmarie, additional, Mzhavia, Nino, additional, Nabi, A.H.M. Nurun, additional, Nagase, Hideaki, additional, Nagle, Michael W., additional, Nägler, Dorit K., additional, Naik, Rajesh R., additional, Nair, Divya B., additional, Nakai, Toshiki, additional, Nakajima, Yoshitaka, additional, Nakamura, Yukio, additional, Nakatogawa, Hitoshi, additional, Nakayama, Toru, additional, Nalivaeva, Natalia N., additional, Nandi, Dipankar, additional, Nascimento-Silva, Maria Clara Leal, additional, Nasmyth, Kim, additional, Nathan, Carl F., additional, Navarro-García, Fernando, additional, Naves, Dayane Lorena, additional, Nedialkova, Danny D., additional, Neuman, Keir C., additional, Nguyen, Jeffrey-Tri, additional, Nguyen, Ky-Anh, additional, Niemirowicz, Gabriela T., additional, Nikai, Toshiaki, additional, Nishi, Eiichiro, additional, Nishii, Wataru, additional, Nishiyama, Makoto, additional, Nishiyama, Yasuhiro, additional, Noda, Masatoshi, additional, Nomura, Seiji, additional, Norioka, Shigemi, additional, Nsangou, Desire M.M., additional, O’Brien, Amornrat, additional, O’Connor, Michael B., additional, Oda, Kohei, additional, Odinokova, Irina V., additional, Oetjen, Joyce, additional, Ogura, Teru, additional, Ohman, Dennis E, additional, Ohsumi, Yoshinori, additional, Ojha, Mukti, additional, Okabe, Akinobu, additional, Okada, Yasunori, additional, Okamoto, Keinosuke, additional, Okuda, Kenji, additional, Okumura, Nobuaki, additional, Okuno, Takashi, additional, Oleson, Kjeld, additional, Oliveira de Giuseppe, Priscila, additional, Olivier, Martin, additional, Ono, Yasuko, additional, Oroszlan, Stephen, additional, Ota, Nobuyuki, additional, Ovadia, Michael, additional, O-Wang, Jiyang, additional, Oxvig, Claus, additional, Packer, Jeremy C.L., additional, Padilla-López, Sergio, additional, Paetzel, Mark, additional, Page, Michael J., additional, Page-McCaw, Andrea, additional, Paine, Mark J.I., additional, Park, Byoung Chul, additional, Park, Eunyong, additional, Park, John E., additional, Park, Pyong Woo, additional, Park, Sung Goo, additional, Parkin, Kirk L., additional, Parks, William C, additional, Paschoalin, Thaysa, additional, Pastore, Annalisa, additional, Patananan, Alexander Nikolich, additional, Paul, Sudhir, additional, Paulson, Henry L., additional, Pawel-Rammingen, Ulrich von, additional, Pearce, David A., additional, Pearson, Mark S., additional, Pei, Duanqing, additional, Pejler, Gunnar, additional, Pemberton, Alan D., additional, Peng, Jianhao, additional, Pernier, Julien, additional, Peters, Jan-Michael, additional, Pfirrmann, Thorsten, additional, Pham, Viet-Laï, additional, Pichová, Iva, additional, Pickering, Darren, additional, Piesse, Christophe, additional, Pignol, David, additional, Pike, Robert N., additional, Pinck, Lothaire, additional, Pirkle, Hubert, additional, Pitot, Henry C., additional, Plaut, Andrew G., additional, Ploegh, Hidde, additional, Polgár, László, additional, Porter, Corrine, additional, Postina, Rolf, additional, Potempa, Jan, additional, Poulsen, Knud, additional, Power, Scott D., additional, Pratt, Rex. F., additional, Prehna, Gerd, additional, Prévost, Gilles, additional, Pshezhetsky, Alexey V., additional, Qasim, Mohammad A., additional, Qian, Feng, additional, Qiu, Jiazhou, additional, Quesada, Víctor, additional, Radisky, Evette S., additional, Rader, Stephen D., additional, Raman, Kavita, additional, Ramsay, Andrew J., additional, Rancourt, Derrick E., additional, Ranjit, Najju, additional, Rao, Narayanam V., additional, Ratia, Kiira, additional, Rawlings, Neil D., additional, Rawson, Robert B., additional, Reddy, Vijay, additional, Redman, Colvin M., additional, Regonesi, Maria Elena, additional, Reichert, Andreas S., additional, Reichl, Antonia P., additional, Remaut, Han, additional, Remington, S. James, additional, Renatus, Martin, additional, Reverter, David, additional, Reynolds, Eric C., additional, Rholam, Mohamed, additional, Rice, Charles M., additional, Ridky, Todd W., additional, Riezman, Howard, additional, Rijken, D.C., additional, Rio, Marie-Christine, additional, Ritchie, Alison, additional, Robert-Baudouy, Janine, additional, Robinson, Mark W., additional, Robinson, Michael, additional, Rodriguez-Romero, Adela, additional, Rodriques, Renata Santos, additional, Rogers, John C., additional, Rojas, Camilo, additional, Romesberg, Floyd E., additional, Roper, David J., additional, Rosas-Murrieta, Nora, additional, Rose, A.M., additional, Rosenthal, Philip J., additional, Rosing, J., additional, Rossetto, Ornella, additional, Rossi, Véronique, additional, Roth, Richard A., additional, Rottensteiner, Hanspeter, additional, Rowan, Andrew D., additional, Rozanov, Mikhail, additional, Rucavado, Alexandra, additional, Ruecker, Andrea, additional, Rul, Françoise, additional, Rümenapf, Till, additional, Russo, Ilaria, additional, Ryan, Martin D., additional, Sacco, Elena, additional, Sadler, J. Evan, additional, Saenger, W., additional, Sahl, Hans-Georg, additional, Sajid, Mohammed, additional, Sakaguchi, Masayoshi, additional, Sakiyama, Fumio, additional, Salas, Maria L., additional, Salgado, Maria Cristina O., additional, Salvesen, Guy S., additional, Sánchez, Edith, additional, Sanchez, Eladio F., additional, Sang, Qing-Xiang Amy, additional, Sankaran, Krishnan, additional, Sarkar, Susanta K., additional, Sarras, Michael P., additional, Sasagawa, Yoshikiyo, additional, Satohiko, Araki, additional, Sauvage, Eric, additional, Saveanu, Loredana, additional, Savithri, H.S., additional, Sawada, Hitoshi, additional, Sawers, R. Gary, additional, Scarisbrick, Isobel A., additional, Schaller, Andreas, additional, Scheer, Justin M., additional, Scheiflinger, Friedrich, additional, Schiene-Fischer, Cordelia, additional, Schlomann, Uwe, additional, Schlösser, Manfred, additional, Schmaier, Alvin H., additional, Schmidt, Walter K., additional, Schneemann, Anette, additional, Schnellmann, Rick G., additional, Scholze, Henning, additional, Schomburg, Lutz, additional, Schwaeble, Wilhelm J., additional, Scott, Christopher J., additional, Scudiero, Rosaria, additional, Sehara-Fujisawa, Atsuko, additional, Seidah, Nabil G., additional, Seiki, Motoharu, additional, Sekiguchi, Junichi, additional, Senff-Ribeiro, Andrea, additional, Seong, Ihn Sik, additional, Serpe, Mihaela, additional, Serrano, Solange M.T., additional, Setlow, Peter, additional, Shahian, Tina, additional, Shanks, M., additional, Shao, Feng, additional, Shapiro, Steven D., additional, Sharma, Navneet, additional, Shaw, Lindsey N., additional, Shen, Aimee, additional, Shen, Lei, additional, Sherwood, Roger F., additional, Shi, Yun-Bo, additional, Shimoi, Hitoshi, additional, Shimura, Yoichiro, additional, Shirras, A.D., additional, Shridhar, Viji, additional, Shukla, Jinal K., additional, Siigur, Ene, additional, Siigur, Jüri, additional, Silmon de Monerri, Natalie C., additional, Sim, Robert B., additional, Simmer, James P., additional, Simmons, William H., additional, Singh, Jaspreet, additional, Singleton, Alison, additional, Sirakova, Tatiana D., additional, Sixma, Titia K., additional, Skern, Tim, additional, Skidgel, Randal A., additional, Slack, Jeffrey, additional, Sleat, David E., additional, Slusher, Barbara S., additional, Smith, Janet L., additional, Smith, Matthew A., additional, Smyth, Mark J., additional, Snijder, Erik J., additional, Sobhanifar, Solmaz, additional, Söderhaäll, Kenneth, additional, Sohar, Istvan, additional, Sonderegger, Peter, additional, Sorgine, Marcos Henrique Ferreira, additional, Sorimachi, Hiroyuki, additional, Soukhodolets, Karen E., additional, Souza, Tatiana de Arruda Campos Brasil de, additional, Sperka, Tamás, additional, Sriskandan, Shiranee, additional, St. Geme, Joseph W., additional, St. Leger, Raymond J., additional, Staib, Peter, additional, Steele, James L., additional, Stefansson, Bjarki, additional, Steinkühler, Christian, additional, Stenberg, Leisa M., additional, Stenflo, Johan, additional, Stennicke, Henning R., additional, Stepanov, Valentin M., additional, Stepnaya, Olga A., additional, Steven, Frank, additional, Stevens, Richard L., additional, Stevenson, Kenneth J., additional, St-Louis, Mathieu, additional, Stobart, Christopher C., additional, Stöcker, Walter, additional, Storer, Andrew C., additional, Sträter, Norbert, additional, Strauss, Ellen G., additional, Strauss, James H., additional, Stříšovský, Kvido, additional, Strynadka, Natalie C.J., additional, Sturrock, Edward D., additional, Su, Dan, additional, Su, Xiao-Dong, additional, Suárez-Rendueles, Paz, additional, Sulea, Traian, additional, Sundararajan, Venkatesh, additional, Suno, Ryoji, additional, Suzuki, Carolyn K., additional, Suzuki, Fumiaki, additional, Suzuki, Hideyuki, additional, Suzuki, Nobuhiro, additional, Swenson, Stephen, additional, Szabady, Rose L., additional, Szecsi, Pal Bela, additional, Szilágyi, Lászlo, additional, Taha, Muhamed-Kheir, additional, Takahashi, Eizo, additional, Takahashi, Kenji, additional, Takai, Toshiro, additional, Takeda, Atsushi, additional, Takeda, Soichi, additional, Tame, Jeremy J.R.H., additional, Tamura, Tomohiro, additional, Tan, Fulong, additional, Tanaka, Keiji, additional, Tanase, Carmen, additional, Tang, Jordan, additional, Tanizaki, Martha M., additional, Tannich, Egbert, additional, Tans, Guido, additional, Tarentino, Anthony L., additional, Tassanakajon, Anchalee, additional, Tatsumi, Hiroki, additional, Tautz, Norbert, additional, Taylor, Erin Bassford, additional, Teixeira, Pedro Filipe, additional, Telugu, Bhanu Prakash V.L., additional, Templin, Markus F., additional, Terada, Shigeyuki, additional, Tetsuya, Uchikoba, additional, Thacker, C., additional, Thaker, Maulik, additional, Thiel, Heinz-Jürgen, additional, Thielens, Nicole, additional, Thierry, Gonzales, additional, Thivierge, Karine, additional, Thomas, Mark D., additional, Thome, Margot, additional, Thorsness, Mary K., additional, Thorsness, Peter E., additional, Tigue, Natalie J., additional, Todi, Sokol V., additional, Tomkinson, Birgitta, additional, Tonello, Fiorella, additional, Tong, Liang, additional, Toogood, H.S., additional, Tortora, Paolo, additional, Tözsèr, József, additional, Travassos, Luiz Rodolpho, additional, Travis, James, additional, Trevisan-Silva, Dilza, additional, Trinchella, Francesca, additional, Trivedi, Neil N., additional, Troy, Carol M., additional, Tschesche, Harald, additional, Tseng, Yu-Lun, additional, Tsujimoto, Masafumi, additional, Tu, Anthony T., additional, Tumelty, Kathleen E., additional, Turk, Boris, additional, Turk, Dusan, additional, Turk, Vito, additional, Turner, Anthony J., additional, Uchikoba, Tetsuya, additional, Ueno, Takayuki, additional, Ugalde, Alejandro P., additional, Uitto, Veli-Jukka, additional, Urban, Sinisa, additional, Valdenaire, Olivier, additional, Valli, Adrian, additional, Van Beeumen, Jozef, additional, Van den Burg, Bertus, additional, Van der Hoorn, Renier A.L., additional, van Dijl, Jan Maarten, additional, Van Endert, Peter, additional, Van Raam, Bram J., additional, Van Wart, Harold E., additional, Vanden Berghe, Tom, additional, Vandenabeele, Peter, additional, Vanoni, Margo, additional, Veiga, Silvio Sanches, additional, Velander, William H., additional, Velasco, Gloria, additional, Vendrell, Josep, additional, Venekei, I. István, additional, Vetvicka, Vaclav, additional, Vögtle, F.-Nora, additional, Vollmer, Waldemar, additional, Wada, Kei, additional, Wagner, Fred W., additional, Wai, Sun Nyunt, additional, Wai, Timothy, additional, Wainwright, Shane, additional, Walker, Kenneth W., additional, Walker, Stephen J., additional, Wallach, Jean, additional, Walling, Linda L., additional, Walsh, Peter N., additional, Wang, Hai-Yan, additional, Wang, Hengbin, additional, Wang, Jianwei, additional, Wang, Peng, additional, Wang, Ping, additional, Wassenegger, Michael, additional, Watanabe, Kunihiko, additional, Webb, Helen, additional, Weber, Joseph M., additional, Weber, Niklas, additional, Webster, Daniel R., additional, Wei, Shuo, additional, Welch, Rodney A., additional, Wells, James A., additional, Wenzel, Herbert, additional, Wertz, Ingrid E., additional, Wewer, Ulla W., additional, Whyteside, Alison R., additional, Wilk, Sherwin, additional, Wilkin, Jean-Marc, additional, Wilmes, Claudia, additional, Winther, Jakob R., additional, Wishart, David S., additional, Wlodawer, Alexander, additional, Woessner, J. Fred, additional, Wolfe, Michael S., additional, Wong, Wilson, additional, Woodgate, Roger, additional, Wright, Gerry, additional, Wu, Jiunn-Jong, additional, Wu, Qingyu, additional, Wysocka, Magdalena, additional, Xu, Chao, additional, Xu, Zhenghong, additional, Yahori, Kinnosuke, additional, Yamada, Shoji, additional, Yamaguchi, Nozomi, additional, Yamaguchi, Shinji, additional, Yamakawa, Yoshio, additional, Yamamoto, Hiroki, additional, Yana, Ikao, additional, Yang, Maozhou, additional, Yang, Na, additional, Yao, Chenjuan, additional, Yao, Tingting, additional, Yasuda, Noriko, additional, Yasuhara, Toshimasa, additional, Yasumasu, Shigeki, additional, Yeh, Edward T.H., additional, Yiallouros, Irene, additional, Yin, Jiang, additional, Yonezawa, Hiroo, additional, Yoo, Soon Ji, additional, Yoshimoto, Tadashi, additional, Young, Michael W., additional, Young, Stephen G., additional, Zaidi, Nousheen, additional, Zavalova, Ludmila L., additional, Zavodszky, Peter, additional, Zhang, Aidong, additional, Zhang, Xianming, additional, Zhang, Yi-Zheng, additional, Zheng, Dominick, additional, Zhong, Guangming, additional, Zhong, Rong, additional, Zhou, Yuan, additional, Zhou, Zhaohui Sunny, additional, Zick, Michael, additional, Zigrino, Paola, additional, and Zimin, Andrei A., additional
- Published
- 2013
- Full Text
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40. Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models
- Author
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Aísa-Marín, Izarbe, primary, López-Iniesta, M. José, additional, Milla, Santiago, additional, Lillo, Jaume, additional, Navarro, Gemma, additional, de la Villa, Pedro, additional, and Marfany, Gemma, additional
- Published
- 2020
- Full Text
- View/download PDF
41. Data on the generation of two Nr2e3 mouse models by CRISPR / Cas9D10A nickase
- Author
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Aísa-Marín, Izarbe, primary, López-Iniesta, M. José, additional, and Marfany, Gemma, additional
- Published
- 2020
- Full Text
- View/download PDF
42. The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina
- Author
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Toulis, Vasileios, primary, García-Monclús, Sílvia, additional, de la Peña-Ramírez, Carlos, additional, Arenas-Galnares, Rodrigo, additional, Abril, Josep F., additional, Todi, Sokol V., additional, Khan, Naheed, additional, Garanto, Alejandro, additional, Costa, Maria do Carmo, additional, and Marfany, Gemma, additional
- Published
- 2020
- Full Text
- View/download PDF
43. Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26)
- Author
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Tuson, Miquel, Marfany, Gemma, and Gonzalez-Duarte, Roser
- Subjects
Ceramides ,Gene mutations ,Cells ,Photoreceptors ,Retinal degeneration ,Human genetics ,Biological sciences - Published
- 2004
44. Specific sphingolipid content decrease in Cerkl knockdown mouse retinas
- Author
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Garanto, Alejandro, Mandal, Nawajes A., Egido-Gabás, Meritxell, Marfany, Gemma, Fabriàs, Gemma, Anderson, Robert E., Casas, Josefina, and Gonzàlez-Duarte, Roser
- Published
- 2013
- Full Text
- View/download PDF
45. High-Throughput Approaches for the Genetic Diagnosis of Retinal Dystrophies
- Author
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Pomares, Esther, primary, Marfany, Gemma, additional, and Gonzàlez-Duarte, Roser, additional
- Published
- 2011
- Full Text
- View/download PDF
46. A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype
- Author
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Domènech, Elena B., primary, Andrés, Rosa, additional, López-Iniesta, M. José, additional, Mirra, Serena, additional, García-Arroyo, Rocío, additional, Milla, Santiago, additional, Sava, Florentina, additional, Andilla, Jordi, additional, Loza-Álvarez, Pablo, additional, de la Villa, Pedro, additional, Gonzàlez-Duarte, Roser, additional, and Marfany, Gemma, additional
- Published
- 2020
- Full Text
- View/download PDF
47. Under pressure: Cerebrospinal fluid contribution to the physiological homeostasis of the eye
- Author
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Mirra, Serena, primary, Marfany, Gemma, additional, and Garcia-Fernàndez, Jordi, additional
- Published
- 2020
- Full Text
- View/download PDF
48. The Relevance of Oxidative Stress in the Pathogenesis and Therapy of Retinal Dystrophies
- Author
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B. Domènech, Elena, primary and Marfany, Gemma, additional
- Published
- 2020
- Full Text
- View/download PDF
49. Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants
- Author
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Toulis, Vasileios, primary, Cortés-González, Vianney, additional, de Castro-Miró, Marta, additional, Ferraz Sallum, Juliana, additional, Català-Mora, Jaume, additional, Villanueva-Mendoza, Cristina, additional, Ciccioli, Marcela, additional, Gonzàlez-Duarte, Roser, additional, Valero, Rebeca, additional, and Marfany, Gemma, additional
- Published
- 2020
- Full Text
- View/download PDF
50. Gene-edited mouse models and human retinal organoids to study the function of CERKL, NR2E3 and ATXN3 genes in inherited retinal dystrophies
- Author
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Marfany, Gemma, VASILEIOS TOULIS, Domenech, Elena B., Aisa-Marin, Izarbe, Mirra, Serena, Da Costa, Maria Do Carmo Pereira, Erceg, Slaven, Lukovic, Dunja, and Gonzalez-Duarte, Roser
- Published
- 2019
Catalog
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