Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Delia Yubero"'
Autor:
Beatriz Minguez, Mariela de Los Santos, Camila Garcia-Volpe, Cristina Molera, Abraham J. Paredes-Fuentes, Clara Oliva, Angela Arias, Helena Rodriguez-Gonzalez, Delia Yubero, Mireia Tondo, Carlos Santos-Ocaña, Silvia Meavilla, Rafael Artuch
Publikováno v:
Antioxidants, Vol 13, Iss 8, p 966 (2024)
Coenzyme Q10 (CoQ) is a ubiquitous lipid with different biological functions. In blood, there is a close relationship between CoQ status and cholesterol, which strongly supports the study of both molecules simultaneously. The objective of this study
Externí odkaz:
https://doaj.org/article/8b868ec7b67e4dc5a1dc96c127b67f01
Autor:
Sonia Emperador, Nuria Garrido-Pérez, Javier Amezcua-Gil, Paula Gaudó, Julio Alberto Andrés-Sanz, Delia Yubero, Ana Fernández-Marmiesse, Maria M. O’Callaghan, Juan D. Ortigoza-Escobar, Marti Iriondo, Eduardo Ruiz-Pesini, Angels García-Cazorla, Mercedes Gil-Campos, Rafael Artuch, Julio Montoya, María Pilar Bayona-Bafaluy
Publikováno v:
Frontiers in Genetics, Vol 10 (2020)
Encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome 13 (MTDPS13) is a rare genetic disorder caused by defects in F-box leucine-rich repeat protein 4 (FBXL4). Although FBXL4 is essential for the bioenergetic homeostasis of the cell, the pr
Externí odkaz:
https://doaj.org/article/3d23431fa04641679dcfda334d4bd917
Autor:
Viruna Neergheen MSc, Annapurna Chalasani MSc, Luke Wainwright MSci, MRes, Delia Yubero PhD, Raquel Montero PhD, Rafael Artuch MD, PhD, Iain Hargreaves PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)
Currently, there is a paucity of available treatment strategies for oxidative phosphorylation disorders. Coenzyme Q 10 (CoQ 10 ) and related synthetic quinones are the only agents to date that have proven to be beneficial in the treatment of these he
Externí odkaz:
https://doaj.org/article/8bcdc08130f642f192ba0032932da67d
Autor:
Cristina Jou, Juan D. Ortigoza-Escobar, Maria M. O’Callaghan, Andres Nascimento, Alejandra Darling, Leticia Pias-Peleteiro, Belén Perez-Dueñas, Mercedes Pineda, Anna Codina, César Arjona, Judith Armstrong, Francesc Palau, Antonia Ribes, Laura Gort, Frederic Tort, Placido Navas, Eduardo Ruiz-Pesini, Sonia Emperador, Ester Lopez-Gallardo, Pilar Bayona-Bafaluy, Raquel Montero, Cecilia Jimenez-Mallebrera, Angels Garcia-Cazorla, Julio Montoya, Delia Yubero, Rafael Artuch
Publikováno v:
Journal of Clinical Medicine, Vol 8, Iss 1, p 68 (2019)
Mitochondrial diseases (MD) are a group of genetic and acquired disorders which present significant diagnostic challenges. Here we report the disease characteristics of a large cohort of pediatric MD patients (n = 95) with a definitive genetic diagno
Externí odkaz:
https://doaj.org/article/7a15245c5bf749658b694dba87179762
Autor:
Raquel Montero, Delia Yubero, Joan Villarroya, Desiree Henares, Cristina Jou, Maria Angeles Rodríguez, Federico Ramos, Andrés Nascimento, Carlos Ignacio Ortez, Jaume Campistol, Belen Perez-Dueñas, Mar O'Callaghan, Mercedes Pineda, Angeles Garcia-Cazorla, Jaume Colomer Oferil, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador, Marija Meznaric, Laura Campderros, Susana G Kalko, Francesc Villarroya, Rafael Artuch, Cecilia Jimenez-Mallebrera
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0148709 (2016)
BACKGROUND:We previously described increased levels of growth and differentiation factor 15 (GDF-15) in skeletal muscle and serum of patients with mitochondrial diseases. Here we evaluated GDF-15 as a biomarker for mitochondrial diseases affecting ch
Externí odkaz:
https://doaj.org/article/30b50934a31046c69010ef0f87d1343d
Publikováno v:
Journal of Clinical Medicine, Vol 6, Iss 4, p 37 (2017)
Coenzyme Q10 (CoQ) is a lipid that is ubiquitously synthesized in tissues and has a key role in mitochondrial oxidative phosphorylation. Its biochemical determination provides insight into the CoQ status of tissues and may detect CoQ deficiency that
Externí odkaz:
https://doaj.org/article/ff3649f6c8c441a7a6bf938dc15c9139
Autor:
Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazábal, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M. Mar O’Callaghan, Mercedes Casado, Raquel Montero, Silvia Meavilla-Olivas, Rafael Artuch, Ivo Barić, Franco Bartoloni, Cinzia Maria Bellettato, Fedele Bonifazi, Adriana Ceci, Ljerka Cvitanović-Šojat, Christine I. Dali, Francesca D’Avanzo, Ksenija Fumic, Viviana Giannuzzi, Christina Lampe, Maurizio Scarpa, Ángels Garcia-Cazorla
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-1 (2016)
Externí odkaz:
https://doaj.org/article/cc46ff4f646f442f80eb8b367524959e
Autor:
Andres Nascimento, Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, Jose C. Milisenda, Elicia A. Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A. Stafki, Lynn S. Pais, Vijay S. Ganesh, Anne O’Donnell-Luria, Safoora B. Syeda, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G. W. Lidov, Andrew L. Mammen, Josep M. Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S. Ghosh, Basil T. Darras, Cristina Jou, Louis M. Kunkel, Janet Hoenicka, Carsten G. Bönnemann, Peter B. Kang, Daniel Natera-de Benito
Publikováno v:
Acta Neuropathologica. 145:479-496
Publikováno v:
Critical Reviews in Clinical Laboratory Sciences. 60:270-289
Autor:
Obdulia Sánchez‐Lijarcio, Delia Yubero, Fátima Leal, María L. Couce, Luis González Gutiérrez‐Solana, Eduardo López‐Laso, Àngels García‐Cazorla, Leticia Pías‐Peleteiro, Begoña de Azua Brea, Salvador Ibáñez‐Micó, Gonzalo Mateo‐Martínez, Monica Troncoso‐Schifferli, Scarlet Witting‐Enriquez, Magdalena Ugarte, Rafael Artuch, Belén Pérez
Publikováno v:
Biblos-e Archivo. Repositorio Institucional de la UAM
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Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood–brain barrier. This work desc