Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Simona Torriano"'
Autor:
Yannick Simonin, Nejla Erkilic, Krishna Damodar, Marion Clé, Caroline Desmetz, Karine Bolloré, Mehdi Taleb, Simona Torriano, Jonathan Barthelemy, Grégor Dubois, Anne Dominique Lajoix, Vincent Foulongne, Edouard Tuaillon, Philippe Van de Perre, Vasiliki Kalatzis, Sara Salinas
Publikováno v:
EBioMedicine, Vol 39, Iss , Pp 315-331 (2019)
Background: Zika virus (ZIKV) has recently re-emerged as a pathogenic agent with epidemic capacities as was well illustrated in South America. Because of the extent of this health crisis, a number of more serious symptoms have become associated with
Externí odkaz:
https://doaj.org/article/3b694dde60e1442a89df847bf8ca3073
Autor:
Nejla Erkilic, Vincent Gatinois, Simona Torriano, Pauline Bouret, Carla Sanjurjo-Soriano, Valerie De Luca, Krishna Damodar, Nicolas Cereso, Jacques Puechberty, Rocio Sanchez-Alcudia, Christian P. Hamel, Carmen Ayuso, Isabelle Meunier, Franck Pellestor, Vasiliki Kalatzis
Publikováno v:
Cells, Vol 8, Iss 9, p 1068 (2019)
Induced pluripotent stem cells (iPSCs) have revolutionized the study of human diseases as they can renew indefinitely, undergo multi-lineage differentiation, and generate disease-specific models. However, the difficulty of working with iPSCs is that
Externí odkaz:
https://doaj.org/article/58696ef3e8e64d819ea17608c3d767c6
Autor:
Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, Noelia Sanchez-Bolivar, Olga Zurita, Ascension Gimenez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Corton, Raquel Perez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Avila-Fernandez, Isabel Lorda, Maria J Trujillo-Tiebas, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Carmen Ayuso
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0151943 (2016)
Choroideremia (CHM) is a rare X-linked disease leading to progressive retinal degeneration resulting in blindness. The disorder is caused by mutations in the CHM gene encoding REP-1 protein, an essential component of the Rab geranylgeranyltransferase
Externí odkaz:
https://doaj.org/article/ae448938b8a44fa087fe836d56714519
Publikováno v:
The CRISPR Journal. 5:457-471
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8523ff0ae769110d2dba1817504bcc22
https://doi.org/10.1089/crispr.2021.0110
https://doi.org/10.1089/crispr.2021.0110
Autor:
C.P. Barragán-Álvarez, Laura Bernardini, Kristen L. Boeshore, Shana N. Busch, Ben A. Calvert, Alessia Casamassa, Brandon S. Cheuk, A. Cota-Coronado, Angela D'Anzi, N.E. Díaz-Martínez, Yiqin Du, Michael G. Fehlings, Daniela Ferrari, William J. Freed, Sabrina Ghosh, Richard M. Giadone, Anke Hoffmann, Che-Yu Hsu, T.S.E. Hung-Fat, Zhour Jazouli, Vasiliki Kalatzis, Mohamad Khazaei, Sinem Koc-Gunel, Ajay Kumar, N.G. Kwong-Man, Chun-Ting Lee, Zareeb Lorenzana, Takeru Makiyama, William Brett McIntyre, George J. Murphy, M. Paulina Ordonez, E. Padilla-Camberos, Katarzyna Pieczonka, Erik J. Quiroz, Edward Robinson, Jessica Rosati, Amy L. Ryan, Christiana N. Senger, Dietmar Spengler, John Steele, Ada Maria Tata, Simona Torriano, V. Valadez-Barba, Angelo Luigi Vescovi, R.A.N. Xinru, T.S.E. Yiu-Lam, Emma Y. Wu, Michael J. Ziller
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::24f6d66bc15fe02812636b11c24b392b
https://doi.org/10.1016/b978-0-12-823882-0.01002-x
https://doi.org/10.1016/b978-0-12-823882-0.01002-x
Autor:
Valerie De Luca, David Baux, Vasiliki Kalatzis, Nicolas Cereso, Simona Torriano, Anne-Françoise Roux, Christian P. Hamel, Isabelle Meunier, Nejla Erkilic, Mariya Moosajee
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-15 (2018)
Scientific Reports
Scientific Reports, Nature Publishing Group, 2018, 8 (1), pp.8234. ⟨10.1038/s41598-018-26481-7⟩
Scientific Reports
Scientific Reports, Nature Publishing Group, 2018, 8 (1), pp.8234. ⟨10.1038/s41598-018-26481-7⟩
Inherited retinal dystrophies (IRDs) are caused by mutations in over 200 genes, resulting in a range of therapeutic options. Translational read-through inducing drugs (TRIDs) offer the possibility of treating multiple IRDs regardless of the causative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a94841c8d930911d32e59e55de8f0e0
http://link.springer.com/article/10.1038/s41598-018-26481-7
http://link.springer.com/article/10.1038/s41598-018-26481-7
Autor:
Gema García-García, Simona Torriano, Nejla Erkilic, Christel Vaché, David Baux, Michel Koenig, Isabelle Meunier, Valérie Faugère, Anne-Françoise Roux, Christian P. Hamel, Xavier Zanlonghi, Vasiliki Kalatzis
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2019, 40 (1), pp.31-35. ⟨10.1002/humu.23671⟩
Human Mutation, Wiley, 2019, 40 (1), pp.31-35. ⟨10.1002/humu.23671⟩
International audience; Choroideremia is a monogenic X-linked recessive chorioretinal disease linked to pathogenic variants in the CHM gene. These variants are commonly base-pair changes, frameshifts, or large deletions. However, a few rare or unusua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74e2807f1384f510b01acdaf18b8a398
https://hal.umontpellier.fr/hal-02434908
https://hal.umontpellier.fr/hal-02434908
Autor:
Valérie Faugère, Vasiliki Kalatzis, Krishna Damodar, Simona Torriano, Nejla Erkilic, Anne-Françoise Roux, Christian P. Hamel
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (18), pp.3573-3584. ⟨10.1093/hmg/ddx244⟩
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (18), pp.3573-3584. ⟨10.1093/hmg/ddx244⟩
International audience; Choroideremia (CHM) is an inherited retinal dystrophy characterised by progressive degeneration of photoreceptors, retinal pigment epithelium (RPE) and underlying choroid. It is caused by loss-of-function mutations in CHM, whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60059e1f902cd615f50012255a05229f
https://hal.umontpellier.fr/hal-02438029
https://hal.umontpellier.fr/hal-02438029
Autor:
Rosalba D’Alessandro, Susanna Antoniotti, Anna Luganini, Simona Torriano, Federico Alessandro Ruffinatti, Davide Lovisolo
Publikováno v:
Neuroscience letters. 629
The repressor element-1 silencing transcription factor (REST) has emerged as a key controller of neuronal differentiation and has been shown to play a critical role in the expression of the neuronal phenotype; however, much has still to be learned ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96da89118c8c020b5eb47950b8e05478
https://pubmed.ncbi.nlm.nih.gov/27349310
https://pubmed.ncbi.nlm.nih.gov/27349310