Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Pilar Rodriguez-Pombo"'
Autor:
Laura Arribas-Carreira, Cristina Dallabona, Michael A Swanson, Joseph Farris, Elsebet Østergaard, Konstantinos Tsiakas, Maja Hempel, Cecile Aquaviva-Bourdain, Stefanos Koutsoukos, Nicholas V Stence, Martina Magistrati, Elaine B Spector, Kathryn Kronquist, Mette Christensen, Helena G Karstensen, René G Feichtinger, Melanie T Achleitner, J Lawrence Merritt II, Belén Pérez, Magdalena Ugarte, Stephanie Grünewald, Anthony R Riela, Natalia Julve, Jean-Baptiste Arnoux, Kasturi Haldar, Claudia Donnini, René Santer, Allan M Lund, Johannes A Mayr, Pilar Rodriguez-Pombo, Johan L K Van Hove
Publikováno v:
Human molecular genetics.
Maintaining protein lipoylation is vital for cell metabolism. The H-protein encoded by GCSH has a dual role in protein lipoylation required for bioenergetic enzymes including pyruvate dehydrogenase and 2-ketoglutarate dehydrogenase, and in the one-ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a43d5241355ccacf3cf24c2450c5b71c
https://pubmed.ncbi.nlm.nih.gov/36190515
https://pubmed.ncbi.nlm.nih.gov/36190515
Autor:
Uliana Musokhranova, Cristina Grau, Cristina Vergara, Laura Rodríguez-Pascau, Clara Xiol, Alba A. Castells, Soledad Alcántara, Pilar Rodríguez-Pombo, Pilar Pizcueta, Marc Martinell, Angels García-Cazorla, Alfonso Oyarzábal
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-17 (2023)
Abstract Background Rett syndrome is a neuropediatric disease occurring due to mutations in MECP2 and characterized by a regression in the neuronal development following a normal postnatal growth, which results in the loss of acquired capabilities su
Externí odkaz:
https://doaj.org/article/34688ba859f34c5d88309d4927e40819
Autor:
Laura Arribas-Carreira, Margarita Castro, Fernando García, Rosa Navarrete, Irene Bravo-Alonso, Francisco Zafra, Magdalena Ugarte, Eva Richard, Belén Pérez, Pilar Rodríguez-Pombo
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2814 (2024)
The pathophysiology of nonketotic hyperglycinemia (NKH), a rare neuro-metabolic disorder associated with severe brain malformations and life-threatening neurological manifestations, remains incompletely understood. Therefore, a valid human neural mod
Externí odkaz:
https://doaj.org/article/e213bcbd384c4f63b0c53c5517148239
Autor:
Sinziana Stanescu, Irene Bravo-Alonso, Amaya Belanger-Quintana, Belen Pérez, Montserrat Medina-Diaz, Pedro Ruiz-Sala, Nathaly Paola Flores, Raquel Buenache, Francisco Arrieta, Pilar Rodríguez-Pombo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Monocarboxylate transporter 1 (MCT1) deficiency has recently been described as a rare cause of recurrent ketosis, the result of impaired ketone utilization in extrahepatic tissues. To date, only six patients with this condition ha
Externí odkaz:
https://doaj.org/article/bf838d3290344e92b33a55b04e45428f
Autor:
Paula Fernandez Guerra, Robert A. Fenton, Johan Palmfeldt, Lei Cheng, Pilar Rodriguez Pombo, Peter Bross
Publikováno v:
Free Radical Biology and Medicine. 108:S69
Branched-chain amino acids (BCAAs) are essential amino acids commonly used in clinical procedures to improve patients outcome.However, their roles and cellular mechanisms are not clear.One effect of BCAAs supplementation is reduction of oxidative str
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f0b35064ca30fcf49025cb81166e795
https://doi.org/10.1016/j.freeradbiomed.2017.04.234
https://doi.org/10.1016/j.freeradbiomed.2017.04.234
Autor:
Alejandro Soriano-Sexto, Diana Gallego, Fátima Leal, Natalia Castejón-Fernández, Rosa Navarrete, Patricia Alcaide, María L. Couce, Elena Martín-Hernández, Pilar Quijada-Fraile, Luis Peña-Quintana, Raquel Yahyaoui, Patricia Correcher, Magdalena Ugarte, Pilar Rodríguez-Pombo, Belén Pérez
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 21, p 12850 (2022)
Inborn errors of metabolism (IEM) constitute a huge group of rare diseases affecting 1 in every 1000 newborns. Next-generation sequencing has transformed the diagnosis of IEM, leading to its proposed use as a second-tier technology for confirming cas
Externí odkaz:
https://doaj.org/article/a172615f1c064b6fbb45301c2321c57c
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 91(3)
Candida albicans, the most common fungal pathogen of humans, possesses an estrogen-binding protein (EBP) that binds mammalian estrogens with high affinity. We report here the cloning and complete nucleotide sequence of a gene encoding a C. albicans E
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ce1f40cd7aec702e1e50a9a69f9bb32
https://pubmed.ncbi.nlm.nih.gov/8302868
https://pubmed.ncbi.nlm.nih.gov/8302868
Autor:
Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
Abstract Background Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. E
Externí odkaz:
https://doaj.org/article/1e43991c7efe4b65b577dbeda655da5f
Autor:
Laura Arribas-Carreira, Irene Bravo-Alonso, Arístides López-Márquez, Esmeralda Alonso-Barroso, Álvaro Briso-Montiano, Ignacio Arroyo, Magdalena Ugarte, Belén Pérez, Celia Pérez-Cerdá, Pilar Rodríguez-Pombo, Eva Richard
Publikováno v:
Stem Cell Research, Vol 39, Iss , Pp - (2019)
A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with nonketotic hyperglycinemia bearing the biallelic changes c.1742C > G (p.Pro581Arg) and c.2368C > T (p.Arg790Trp) in the GLDC gene. Reprogramming factor
Externí odkaz:
https://doaj.org/article/b3968f8debc44c3d8ee41557336cc7a9
Publikováno v:
Europe PubMed Central
Scopus-Elsevier
Scopus-Elsevier
The biochemical characteristics of a patient with most of the clinical symptoms of nonketotic-hyperglycinemia have been studied. Despite the extremely low plasma/cerebrospinal fluid glycine ratio of the patient, typical of the nonketotic syndrome, at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8e096dd2b8d8d4d244328246e14b6854
http://europepmc.org/abstract/med/6537469
http://europepmc.org/abstract/med/6537469
