Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Yvonne Richaud-Patin"'
Publikováno v:
Stem Cell Research, Vol 55, Iss , Pp 102445- (2021)
Germline heterozygous GATA2 mutations underlie a complex disorder characterized by bone marrow failure, immunodeficiency and high risk to develop myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Our understanding about GATA2 deficienc
Externí odkaz:
https://doaj.org/article/620d1103049b4a9789e18ced1e1491c5
Autor:
Meritxell Carrió, Helena Mazuelas, Yvonne Richaud-Patin, Bernat Gel, Ernest Terribas, Imma Rosas, Senda Jimenez-Delgado, Josep Biayna, Leen Vendredy, Ignacio Blanco, Elisabeth Castellanos, Conxi Lázaro, Ángel Raya, Eduard Serra
Publikováno v:
Stem Cell Reports, Vol 12, Iss 2, Pp 411-426 (2019)
Summary: Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disease caused by mutations in the NF1 tumor suppressor gene. Plexiform neurofibromas (PNFs) are benign Schwann cell (SC) tumors of the peripheral nerve sheath that develop thr
Externí odkaz:
https://doaj.org/article/88a77f9a7c3e4807b0539d76fcbde7b1
Autor:
Angelique di Domenico, Giulia Carola, Carles Calatayud, Meritxell Pons-Espinal, Juan Pablo Muñoz, Yvonne Richaud-Patin, Irene Fernandez-Carasa, Marta Gut, Armida Faella, Janani Parameswaran, Jordi Soriano, Isidro Ferrer, Eduardo Tolosa, Antonio Zorzano, Ana Maria Cuervo, Angel Raya, Antonella Consiglio
Publikováno v:
Stem Cell Reports, Vol 12, Iss 2, Pp 213-229 (2019)
Summary: Parkinson's disease (PD) is associated with the degeneration of ventral midbrain dopaminergic neurons (vmDAns) and the accumulation of toxic α-synuclein. A non-cell-autonomous contribution, in particular of astrocytes, during PD pathogenesi
Externí odkaz:
https://doaj.org/article/70aa8260cb6b4833930f331560a354aa
Autor:
Cristina Olgasi, Maria Talmon, Simone Merlin, Alessia Cucci, Yvonne Richaud-Patin, Gabriella Ranaldo, Donato Colangelo, Federica Di Scipio, Giovanni N. Berta, Chiara Borsotti, Federica Valeri, Francesco Faraldi, Maria Prat, Maria Messina, Piercarla Schinco, Angelo Lombardo, Angel Raya, Antonia Follenzi
Publikováno v:
Stem Cell Reports, Vol 11, Iss 6, Pp 1391-1406 (2018)
Summary: We generated patient-specific disease-free induced pluripotent stem cells (iPSCs) from peripheral blood CD34+ cells and differentiated them into functional endothelial cells (ECs) secreting factor VIII (FVIII) for gene and cell therapy appro
Externí odkaz:
https://doaj.org/article/8867c765fe344630b78a3afcd6aa23de
Autor:
Isaac Canals, Jordi Soriano, Javier G. Orlandi, Roger Torrent, Yvonne Richaud-Patin, Senda Jiménez-Delgado, Simone Merlin, Antonia Follenzi, Antonella Consiglio, Lluïsa Vilageliu, Daniel Grinberg, Angel Raya
Publikováno v:
Stem Cell Reports, Vol 5, Iss 4, Pp 546-557 (2015)
Induced pluripotent stem cell (iPSC) technology has been successfully used to recapitulate phenotypic traits of several human diseases in vitro. Patient-specific iPSC-based disease models are also expected to reveal early functional phenotypes, altho
Externí odkaz:
https://doaj.org/article/41412330940d4205b3aa8f678df1978c
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Stem Cell Research, Vol 55, Iss, Pp 102445-(2021)
Universidad de Barcelona
Stem Cell Research, Vol 55, Iss, Pp 102445-(2021)
Germline heterozygous GATA2 mutations underlie a complex disorder characterized by bone marrow failure, immunodeficiency and high risk to develop myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Our understanding about GATA2 deficienc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd686d982912949f339e0f3a7bb30d7d
http://hdl.handle.net/2445/181015
http://hdl.handle.net/2445/181015
Autor:
Maria Messina, Alessia Cucci, Federica Di Scipio, Antonia Follenzi, Giovanni Nicolao Berta, Simone Merlin, Angel Raya, Donato Colangelo, Federica Valeri, Cristina Olgasi, Chiara Borsotti, Piercarla Schinco, Francesco Faraldi, Gabriella Ranaldo, Maria Talmon, Maria Prat, Angelo Lombardo, Yvonne Richaud-Patin
Publikováno v:
Stem Cell Reports
Stem Cell Reports, Vol 11, Iss 6, Pp 1391-1406 (2018)
Stem Cell Reports, Vol 11, Iss 6, Pp 1391-1406 (2018)
Summary We generated patient-specific disease-free induced pluripotent stem cells (iPSCs) from peripheral blood CD34+ cells and differentiated them into functional endothelial cells (ECs) secreting factor VIII (FVIII) for gene and cell therapy approa
Autor:
Daniel Malagarriga, Meritxell Pons-Espinal, Carles Calatayud, Antonella Consiglio, Eduard Tolosa, Irene Fernandez-Carasa, E Molina, Giulia Carola, Patrizia Dell'Era, Angel Raya, V Baruffi, Yvonne Richaud-Patin, J J Toledo-Aral, Jordi Soriano, Alysson R. Muotri, J. Garcia Ojalvo, S Beltramone, L Blasco-Agell
Publikováno v:
NPJ Parkinson's Disease
NPJ Parkinson's disease, vol 7, iss 1
npj Parkinson's Disease, Vol 7, Iss 1, Pp 1-14 (2021)
Dipòsit Digital de la UB
Universidad de Barcelona
Digital.CSIC. Repositorio Institucional del CSIC
instname
NPJ Parkinson's disease, vol 7, iss 1
npj Parkinson's Disease, Vol 7, Iss 1, Pp 1-14 (2021)
Dipòsit Digital de la UB
Universidad de Barcelona
Digital.CSIC. Repositorio Institucional del CSIC
instname
A deeper understanding of early disease mechanisms occurring in Parkinson’s disease (PD) is needed to reveal restorative targets. Here we report that human induced pluripotent stem cell (iPSC)-derived dopaminergic neurons (DAn) obtained from health
Autor:
Helena Mazuelas, Imma Rosas, Meritxell Carrió, Ernest Terribas, Angel Raya, Eduard Serra, Josep Biayna, Ignacio Blanco, Yvonne Richaud-Patin, Senda Jiménez-Delgado, Bernat Gel, Conxi Lázaro, Leen Vendredy, Elisabeth Castellanos
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Stem Cell Reports
Stem Cell Reports, Vol 12, Iss 2, Pp 411-426 (2019)
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Universidad de Barcelona
Stem Cell Reports
Stem Cell Reports, Vol 12, Iss 2, Pp 411-426 (2019)
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Summary Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disease caused by mutations in the NF1 tumor suppressor gene. Plexiform neurofibromas (PNFs) are benign Schwann cell (SC) tumors of the peripheral nerve sheath that develop thro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8acd1bc377c36981a7b04aa2bebe7987
http://hdl.handle.net/2445/171527
http://hdl.handle.net/2445/171527
Autor:
Yvonne Richaud-Patin, Angel Raya, José Antonio del Río, Cristina Vergara, Andreu Matamoros-Angles, Antonella Consiglio, Joaquín Castilla, Angelique di Domenico, A C Sousa, Isidro Ferrer, Rosario Sanchez-Pernaute, Rakel López de Maturana, Rosalina Gavín, Natalia Fernández-Borges, Adolfo López de Munain, Lucía Mayela Gayosso, Arnau Hervera
Publikováno v:
Repositorio de Resultados de Investigación del INIA
INIA: Repositorio de Resultados de Investigación del INIA
Addi. Archivo Digital para la Docencia y la Investigación
instname
Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria INIA
Dipòsit Digital de la UB
Universidad de Barcelona
Molecular Neurobiology
Molecular neurobiology, 55 (4
INIA: Repositorio de Resultados de Investigación del INIA
Addi. Archivo Digital para la Docencia y la Investigación
instname
Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria INIA
Dipòsit Digital de la UB
Universidad de Barcelona
Molecular Neurobiology
Molecular neurobiology, 55 (4
Gerstmann-Sträussler-Scheinker (GSS) syndrome is a fatal autosomal dominant neurodegenerative prionopathy clinically characterized by ataxia, spastic paraparesis, extrapyramidal signs and dementia. In some GSS familiar cases carrying point mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f361f3f425ed9cd7942fb6541ebdc9e7
http://hdl.handle.net/20.500.12792/653
http://hdl.handle.net/20.500.12792/653