Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Elena García-Arumi"'
Autor:
Irene Fernández-Ruiz, Francisco Arnalich, Carolina Cubillos-Zapata, Enrique Hernández-Jiménez, Raúl Moreno-González, Víctor Toledano, María Fernández-Velasco, Maria T Vallejo-Cremades, Laura Esteban-Burgos, Rebeca Pérez de Diego, Miguel A Llamas-Matias, Elena García-Arumi, Ramón Martí, Lisardo Boscá, Antoni L Andreu, José Luis López-Sendón, Eduardo López-Collazo
Publikováno v:
PLoS ONE, Vol 9, Iss 5, p e95073 (2014)
Monocyte exposure to mitochondrial Danger Associated Molecular Patterns (DAMPs), including mitochondrial DNA (mtDNA), induces a transient state in which these cells are refractory to further endotoxin stimulation. In this context, IRAK-M up-regulatio
Externí odkaz:
https://doaj.org/article/11f38959cab14f00b2cb0de2cbeccdc9
Autor:
Lorraine Glennie, Marta Codina Solà, Mar Xunclà, Gloria Aparicio Español, Elena Garcia-Arumí, Eduardo Fidel Tizzano, Nicola T. Wood, Thomas J. Macartney, Amaia Lasa-Aranzasti, Gopal P. Sapkota
Publikováno v:
Open Biology, Vol 14, Iss 7 (2024)
Palmoplantar keratoderma (PPK) is a multi-faceted skin disorder characterized by the thickening of the epidermis and abrasions on the palms and soles of the feet. Among the genetic causes, biallelic pathogenic variants in the FAM83G gene have been as
Externí odkaz:
https://doaj.org/article/f83bbced95d14422844e09e4000c188d
Autor:
Mónica Fernández-Cancio, María Antolín, María Clemente, Ariadna Campos-Martorell, Eduard Mogas, Noelia Baz-Redón, Jordi Leno-Colorado, Gemma Comas-Armangué, Elena García-Arumí, Laura Soler-Colomer, Núria González-Llorens, Núria Camats-Tarruella, Diego Yeste
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionDefects in any thyroid hormone synthesis steps cause thyroid dyshormonogenesis (THD). THD due to thyroglobulin (TG) gene variants is a cause of congenital hypothyroidism (CH) with a wide clinical spectrum, ranging from mild to severe perm
Externí odkaz:
https://doaj.org/article/488622cb30184b09bcb312808aad3740
Autor:
Ieva Keraite, Philipp Becker, Davide Canevazzi, Cristina Frias-López, Marc Dabad, Raúl Tonda-Hernandez, Ida Paramonov, Matthew John Ingham, Isabelle Brun-Heath, Jordi Leno, Anna Abulí, Elena Garcia-Arumí, Simon Charles Heath, Marta Gut, Ivo Glynne Gut
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
Accurate analysis of mitochondrial DNA is important for mitochondrial disease clinical research and diagnostics. Here, authors present a method using Cas9 cleavage, nanopore sequencing and a custom pipeline to identify pathogenic variants, deletions
Externí odkaz:
https://doaj.org/article/5509dd67c124407290bff7e8473a500c
Autor:
Júlia Sala-Coromina, Lucía Dougherty-de Miguel, Javier de las Heras, Amaia Lasa-Aranzasti, Elena Garcia-Arumi, Lidia Carreño, Jose Antonio Arranz, Clara Carnicer, María Unceta-Suárez, Angel Sanchez-Montañez, Laura Gort, Frederic Tort, Mireia del Toro
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100690- (2021)
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failur
Externí odkaz:
https://doaj.org/article/acea3658f5bd4727b3e310ec0b2b0b1b
Autor:
Nuria Bujan, Constanza Morén, Francesc J. García-García, Alberto Blázquez, Clara Carnicer, Ana Belén Cortés, Cristina González, Ester López-Gallardo, Ester Lozano, Sonia Moliner, Laura Gort, Ester Tobías, Aitor Delmiro, Miguel Ángel Martin, Miguel Ángel Fernández-Moreno, Eduardo Ruiz-Pesini, Elena Garcia-Arumí, Juan Carlos Rodríguez-Aguilera, Glòria Garrabou
Publikováno v:
Antioxidants, Vol 11, Iss 4, p 741 (2022)
The quantification of mitochondrial respiratory chain (MRC) enzymatic activities is essential for diagnosis of a wide range of mitochondrial diseases, ranging from inherited defects to secondary dysfunctions. MRC lesion is frequently linked to extend
Externí odkaz:
https://doaj.org/article/d0611c0ec08947eb8c86d361cf171d51
Autor:
Natividad Blasco, Yolanda Cámara, Estefanía Núñez, Aida Beà, Gisel Barés, Carles Forné, Marisol Ruíz-Meana, Cristina Girón, Ignasi Barba, Elena García-Arumí, David García-Dorado, Jesús Vázquez, Ramon Martí, Marta Llovera, Daniel Sanchis
Publikováno v:
Redox Biology, Vol 16, Iss , Pp 146-156 (2018)
The endonuclease G gene (Endog), which codes for a mitochondrial nuclease, was identified as a determinant of cardiac hypertrophy. How ENDOG controls cardiomyocyte growth is still unknown. Thus, we aimed at finding the link between ENDOG activity and
Externí odkaz:
https://doaj.org/article/e9f7dcc0f3da43138d4fb856b971dc9a
Autor:
Salvador Meseguer, Olga Boix, Carmen Navarro-González, Magda Villarroya, Rachid Boutoual, Sonia Emperador, Elena García-Arumí, Julio Montoya, M.-Eugenia Armengod
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-16 (2017)
Abstract Mitochondrial diseases due to mutations in the mitochondrial (mt) DNA are heterogeneous in clinical manifestations but usually include OXPHOS dysfunction. Mechanisms by which OXPHOS dysfunction contributes to the disease phenotype invoke, ap
Externí odkaz:
https://doaj.org/article/8373d498e1a446ffb1debbb300c1e96f
Autor:
Lidia Carreño-Gago, Cora Blázquez-Bermejo, Jordi Díaz-Manera, Yolanda Cámara, Eduard Gallardo, Ramon Martí, Javier Torres-Torronteras, Elena García-Arumí
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Mitochondrial DNA (mtDNA) depletion and deletion syndrome encompasses a group of disorders caused by mutations in genes involved in mtDNA replication and maintenance. The clinical phenotype ranges from fatal infantile hepatocerebral forms to mild adu
Externí odkaz:
https://doaj.org/article/cd58f1af7be14c018f24419717dfc6ed
Autor:
Gisela Nogales-Gadea, Inés Consuegra-García, Juan C Rubio, Joaquin Arenas, Marc Cuadros, Yolanda Camara, Javier Torres-Torronteras, Carmen Fiuza-Luces, Alejandro Lucia, Miguel A Martín, Elena García-Arumí, Antoni L Andreu
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e31718 (2012)
McArdle disease is caused by lack of glycogen phosphorylase (GP) activity in skeletal muscle. Patients experience exercise intolerance, presenting as early fatigue and contractures. In this study, we investigated the effects produced by a lack of GP
Externí odkaz:
https://doaj.org/article/d02f9b119679451f86af8b382c5ba920