Zobrazeno 1 - 10
of 104
pro vyhledávání: '"Ruben Hernandez‐Alcoceba"'
Autor:
Oihana Murillo, Maria Collantes, Cristina Gazquez, Daniel Moreno, Ruben Hernandez-Alcoceba, Miren Barberia, Margarita Ecay, Blanche Tamarit, Anne Douar, Veronica Ferrer, Jean Philippe Combal, Ivan Peñuelas, Bernard Bénichou, Gloria Gonzalez-Aseguinolaza
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 26, Iss , Pp 98-106 (2022)
Wilson’s disease (WD) is an inherited disorder of copper metabolism associated with mutations in ATP7B gene. We have shown that the administration of an adeno-associated vector (AAV) encoding a mini version of human ATP7B (VTX-801) provides long-te
Externí odkaz:
https://doaj.org/article/afe87d2e90484e9ca008bbd452940d81
Autor:
Saja Fadila, Bertrand Beucher, Iria González Dopeso-Reyes, Anat Mavashov, Marina Brusel, Karen Anderson, Caroline Ismeurt, Ethan M. Goldberg, Ana Ricobaraza, Ruben Hernandez-Alcoceba, Eric J. Kremer, Moran Rubinstein
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 12 (2023)
Dravet syndrome (DS), an intractable childhood epileptic encephalopathy with a high fatality rate, is typically caused by loss-of-function mutations in one allele of SCN1A, which encodes NaV1.1, a 250-kDa voltage-gated sodium channel. In contrast to
Externí odkaz:
https://doaj.org/article/2ad9803b50ee4a45bf9f3b05e52e1d3d
Autor:
Sara Lumbreras, Ana Ricobaraza, Lucia Baila-Rueda, Manuela Gonzalez-Aparicio, Lucia Mora-Jimenez, Iker Uriarte, Maria Bunuales, Matias A. Avila, Maria J. Monte, Jose J.G. Marin, Ana Cenarro, Gloria Gonzalez-Aseguinolaza, Ruben Hernandez-Alcoceba
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 22, Iss , Pp 210-221 (2021)
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene, encoding the sterol 27-hydroxylase. Disruption of the bile acid biosynthesis pathway and accumulation of toxic precursors such as cholesta
Externí odkaz:
https://doaj.org/article/dbca431b41004c1fa3d3a6751b4526b2
Autor:
Lucia Mora-Jimenez, Miguel Valencia, Rocio Sanchez-Carpintero, Jan Tønnesen, Saja Fadila, Moran Rubinstein, Manuela Gonzalez-Aparicio, Maria Bunuales, Eva Fernandez-Pierola, Maria Jesus Nicolas, Elena Puerta, Cristina Miguelez, Paula Gimenez Minguez, Sara Lumbreras, Gloria Gonzalez-Aseguinolaza, Ana Ricobaraza, Ruben Hernandez-Alcoceba
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 25, Iss , Pp 585-602 (2021)
Dravet syndrome is a genetic encephalopathy characterized by severe epilepsy combined with motor, cognitive, and behavioral abnormalities. Current antiepileptic drugs achieve only partial control of seizures and provide little benefit on the patient
Externí odkaz:
https://doaj.org/article/d8a21f6b96294c4686222a2f4ad8317e
Autor:
Angel Aledo-Serrano, Antonio Gil-Nagel, Julian Isla, Ana Mingorance, Fernando Mendez-Hermida, Ruben Hernandez-Alcoceba
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-3 (2021)
Abstract The COVID-19 pandemic is adding an unanticipated concern for those affected by genetic diseases. Most of the new treatment achievements for these patients are made possible as a result of advances in viral-based products. Among them, adenovi
Externí odkaz:
https://doaj.org/article/693f95cb49044abbacb22bcfef793a34
Autor:
Ana Ricobaraza, Lucia Mora-Jimenez, Elena Puerta, Rocio Sanchez-Carpintero, Ana Mingorance, Julio Artieda, Maria Jesus Nicolas, Guillermo Besne, Maria Bunuales, Manuela Gonzalez-Aparicio, Noemi Sola-Sevilla, Miguel Valencia, Ruben Hernandez-Alcoceba
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/3becad7f781e4292b660db2d7710c5e8
Autor:
Estanislao Nistal-Villan, Joanna Poutou, Estefania Rodríguez-Garcia, Maria Buñuales, Beatriz Carte-Abad, Jesus Prieto, Gloria Gonzalez-Aseguinolaza, Ruben Hernandez-Alcoceba, Esther Larrea
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0152031 (2016)
Development of reporter systems for in vivo examination of IFN-β induction or signaling of type I interferon (IFN-I) pathways is of great interest in order to characterize biological responses to different inducers such as viral infections. Several
Externí odkaz:
https://doaj.org/article/08947cd823fe461dbe7af45220631911
Autor:
Marc Garcia-Moure, Marisol Gonzalez-Huarriz, Manuela Gonzalez-Aparicio, Marta M. Alonso, Ruben Hernandez-Alcoceba, Virginia Laspidea, Sara Labiano, Marta Zalacain, Ana Patiño-García, Montse Puigdelloses, Lucía Marrodán, Naiara Martinez-Velez, Maria Bunuales
Publikováno v:
Molecular Therapy: Oncolytics, Vol 20, Iss, Pp 23-33 (2021)
Molecular Therapy Oncolytics
Molecular Therapy-Oncolytics
Molecular Therapy Oncolytics
Molecular Therapy-Oncolytics
Osteosarcoma is the most frequent and aggressive bone tumor in children and adolescents, with a long-term survival rate of 30%. Interleukin-12 (IL-12) is a potent cytokine that bridges innate and adaptive immunity, triggers antiangiogenic responses,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9a5a6516d12025c32b5631b52d6b79e
http://www.sciencedirect.com/science/article/pii/S2372770520301686
http://www.sciencedirect.com/science/article/pii/S2372770520301686
Autor:
Saja Fadila, Bertrand Beucher, Iria González-Dopeso Reyes, Anat Mavashov, Marina Brusel, Karen Anderson, Ethan M Goldberg, Ana Ricobaraza, Ruben Hernandez-Alcoceba, Eric J Kremer, Moran Rubinstein
Dravet syndrome (DS), an intractable childhood epileptic encephalopathy with a high fatality rate, is caused by loss-of-function mutations in one allele of SCN1A, which encodes NaV1.1. In contrast to other epilepsies, pharmaceutical treatment for DS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72691a94805594806949f590f1bdc0ab
https://doi.org/10.1101/2022.06.10.495591
https://doi.org/10.1101/2022.06.10.495591
Autor:
Fernando Mendez-Hermida, Julian Isla, Ruben Hernandez-Alcoceba, Antonio Gil-Nagel, Ana Mingorance, Ángel Aledo-Serrano
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-3 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
The COVID-19 pandemic is adding an unanticipated concern for those affected by genetic diseases. Most of the new treatment achievements for these patients are made possible as a result of advances in viral-based products. Among them, adenoviruses (Ad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcc4dfca6181ba4bfc3901e556dcb3ce
https://doaj.org/article/693f95cb49044abbacb22bcfef793a34
https://doaj.org/article/693f95cb49044abbacb22bcfef793a34