Zobrazeno 1 - 10
of 130
pro vyhledávání: '"Celia Pérez-Cerdá"'
Autor:
Sinziana Stanescu, Amaya Belanger-Quintana, Carlos Alcalde Martin, Celia Pérez-Cerdá Silvestre, Begoña Merinero Cortés, Belen Gonzalez Pérez, Carmen Fernández García-Abril, Francisco Arrieta Blanco, Esperanza Palacios Valverde, Mercedes Martínez-Pardo Casanova
Publikováno v:
Case Reports in Pediatrics, Vol 2020 (2020)
Background. Multiple acyl-CoA dehydrogenase deficiency is an autosomal recessive disorder of the amino acid metabolism and fatty acid oxidation due to the deficiency of the electron transfer protein or electron transfer protein ubiquinone oxidoreduct
Externí odkaz:
https://doaj.org/article/c53ac6959a3041ea8f88045bc8ffe8da
Autor:
Esmeralda Alonso-Barroso, Sandra Brasil, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R. Desviat, Eva Richard
Publikováno v:
Stem Cell Research, Vol 23, Iss C, Pp 173-177 (2017)
Human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia carrying mutations in the PCCA gene: c.1899+4_1899+7delAGTA; p.(Cys616_Val633del) and c.1430−−?_1643+?del; p.(Gly477Glufs*9). Repr
Externí odkaz:
https://doaj.org/article/1fd936ac932742b3b2f236af9a1d0661
Autor:
Ana Rivera-Barahona, Alejandro Fulgencio-Covián, Celia Pérez-Cerdá, Ricardo Ramos, Michael A. Barry, Magdalena Ugarte, Belén Pérez, Eva Richard, Lourdes R Desviat
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Abstract miRNome expression profiling was performed in a mouse model of propionic acidemia (PA) and in patients’ plasma samples to investigate the role of miRNAs in the pathophysiology of the disease and to identify novel biomarkers and therapeutic
Externí odkaz:
https://doaj.org/article/81f02db56c494ec3a74cb8d4bc20b7c9
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
Autor:
Arístides López-Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, Irene Bravo-Alonso, Laura Arribas-Carreira, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R. Desviat, Eva Richard
Publikováno v:
Stem Cell Research, Vol 38, Iss , Pp - (2019)
A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia that has a homozygous mutation (c.1218_1231del14ins12 (p.G407 fs)) in the PCCB gene. Reprogramming factors OCT3/4, SOX2, KLF4 and c-
Externí odkaz:
https://doaj.org/article/6bcc985f9e1040cd893521594429bcff
Autor:
Irene Bravo-Alonso, Rosa Navarrete, Ana Isabel Vega, Pedro Ruíz-Sala, María Teresa García Silva, Elena Martín-Hernández, Pilar Quijada-Fraile, Amaya Belanger-Quintana, Sinziana Stanescu, María Bueno, Isidro Vitoria, Laura Toledo, María Luz Couce, Inmaculada García-Jiménez, Ricardo Ramos-Ruiz, Miguel Ángel Martín, Lourdes R. Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Begoña Merinero, Belén Pérez, Pilar Rodríguez-Pombo
Publikováno v:
Journal of Clinical Medicine, Vol 8, Iss 11, p 1811 (2019)
Congenital lactic acidosis (CLA) is a rare condition in most instances due to a range of inborn errors of metabolism that result in defective mitochondrial function. Even though the implementation of next generation sequencing has been rapid, the dia
Externí odkaz:
https://doaj.org/article/e11470d8204842e49f979ca579a87c11
Autor:
Patricia Yuste-Checa, Ana I Vega, Cristina Martín-Higueras, Celia Medrano, Alejandra Gámez, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez
Publikováno v:
PLoS ONE, Vol 12, Iss 6, p e0179456 (2017)
Pathogenic mutations in DPAGT1 are manifested as two possible phenotypes: congenital disorder of glycosylation DPAGT1-CDG (also known as CDG-Ij), and limb-girdle congenital myasthenic syndrome (CMS) with tubular aggregates. UDP-N-acetylglucosamine-do
Externí odkaz:
https://doaj.org/article/089610f69b7e4e0bb028e1b279a8678b
Autor:
Mercè Izquierdo-Serra, Antonio F. Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G. Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M. Fernández-Fernández, Mercedes Serrano
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 2, p 619 (2018)
Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV2.1 channel). The underlying path
Externí odkaz:
https://doaj.org/article/fe935ff1b154463da302ead9af2340dd
Autor:
Begoña Merinero, Celia Pérez-Cerdá, Pedro Ruiz-Sala, Francisco Arrieta, Mercedes Martínez-Pardo, Sinziana Stanescu, Amaya Belanger-Quintana, Borja M. Fernandez-Felix
Publikováno v:
JIMD Reports
Background Propionic acidemia (PA) is an inherited disorder caused by deficiency of propionyl CoA carboxylase. Most patients with this disorder are diagnosed during the neonatal period because of severe metabolic acidosis and hyperammonemia. Patients
Autor:
Belén Pérez, Michael A. Barry, Ana Rivera-Barahona, Lourdes R. Desviat, Magdalena Ugarte, Esmeralda Alonso-Barroso, Adam J. Guenzel, Eva Richard, Celia Pérez-Cerdá, Alejandro Fulgencio-Covián
Publikováno v:
Biblos-e Archivo. Repositorio Institucional de la UAM
Consejo Superior de Investigaciones Científicas (CSIC)
Biblos-e Archivo: Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Consejo Superior de Investigaciones Científicas (CSIC)
Biblos-e Archivo: Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Cardiac alterations (hypertrophic/dilated cardiomyopathy, and rhythm alterations) are one of the major causes of mortality and morbidity in propionic acidemia (PA), caused by the deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC),