Zobrazeno 1 - 10
of 349
pro vyhledávání: '"Joaquín, Arenas"'
Publikováno v:
Biomedicines, Vol 11, Iss 9, p 2434 (2023)
McArdle disease is a rare autosomal recessive condition caused by mutations in the PYGM gene. This gene encodes the skeletal muscle isoform of glycogen phosphorylase or myophosphorylase. Patients with McArdle disease have an inability to obtain energ
Externí odkaz:
https://doaj.org/article/19ec2d62cbd94a1d8acfe2a82625bb80
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
The regulatory role of actin cytoskeleton on mitochondrial function is a growing research field, but the underlying molecular mechanisms remain poorly understood. Specific actin-binding proteins (ABPs), such as Gelsolin, have also been shown to parti
Externí odkaz:
https://doaj.org/article/ba4eadc3c45b4dc383e4533b63bc772f
Autor:
Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi, María Carmen Badosa, Jesús Esteban, Cecilia Jimenez-Mallebrera, Alberto Blazquez Encinar, Joaquín Arenas, Michio Hirano, Miguel Ángel Martin, Carmen Paradas
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of the mitochondria
Externí odkaz:
https://doaj.org/article/e7796e2f0d6c4768bedacd49fb603f21
Autor:
Pablo Serrano-Lorenzo, Olga N. Coya, Ana López-Jimenez, Alberto Blázquez, Aitor Delmiro, Alejandro Lucia, Joaquín Arenas, Miguel A. Martín, Alejandro Santos-Lozano, Cecilia Cueto-Felgueroso, Alba Fernández-del Pozo, Montserrat de Miguel-Reyes
Publikováno v:
Practical Laboratory Medicine, Vol 25, Iss , Pp e00226- (2021)
Objectives: We aimed to determine whether the plasma profile of lactate dehydrogenase (LDH) isoenzymes is altered in patients with COVID-19, and whether this is attributable to a specific release of LDH-3, the main LDH isoenzyme expressed in lungs. D
Externí odkaz:
https://doaj.org/article/12f57ff30b3942ab8e8d433597710090
Autor:
Miguel Fernández-de la Torre, Carmen Fiuza-Luces, Pedro L. Valenzuela, Sara Laine-Menéndez, Joaquín Arenas, Miguel A. Martín, Doug M. Turnbull, Alejandro Lucia, María Morán
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
AimCerebellar neurodegeneration is a main phenotypic manifestation of mitochondrial disorders caused by apoptosis-inducing factor (AIF) deficiency. We assessed the effects of an exercise training intervention at the cerebellum and brain level in a mo
Externí odkaz:
https://doaj.org/article/ba6d80a1687e4c84820f3663f5fc8568
Autor:
Victoria Cerrada, Marta García-López, Sofía Alvarez-Galeano, Ana Moreno-Izquierdo, Alejandro Lucia, María Rabasa Pérez, Joaquín Arenas, M. Esther Gallardo
Publikováno v:
Stem Cell Research, Vol 49, Iss , Pp 102108- (2020)
Peripheral blood mononuclear cells (PBMCs) from a McArdle patient carrying a homozygous mutation in the PYGM gene: c.2392 T > C; p.Trp798Arg were used for the generation of the human iPSC line, IISHDOi007-A. For the delivery of the reprogramming fact
Externí odkaz:
https://doaj.org/article/794ddd10f01b43a8bbd4a4ec8227656d
Autor:
Sara Laine-Menéndez, Miguel Fernández-de la Torre, Carmen Fiuza-Luces, Aitor Delmiro, Joaquín Arenas, Miguel Ángel Martín, Patricia Boya, Alejandro Lucia, María Morán
Publikováno v:
Antioxidants, Vol 11, Iss 3, p 510 (2022)
We analyzed the effects of apoptosis-inducing factor (AIF) deficiency, as well as those of an exercise training intervention on autophagy across tissues (heart, skeletal muscle, cerebellum and brain), that are primarily affected by mitochondrial dise
Externí odkaz:
https://doaj.org/article/89b90c5d5e664138946534ba35dda509
Autor:
María Paz Guerrero‐Molina, Montserrat Morales‐Conejo, Aitor Delmiro, María Morán, Cristina Domínguez‐González, Elena Arranz‐Canales, Ana Ramos‐González, Joaquín Arenas, Miguel A. Martín, Jesús González de la Aleja
Publikováno v:
European Journal of Neurology. 30:538-547
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous disorder caused by mitochondrial DNA mutations. There are no disease-modifying therapies, and treatment remains mainly supportiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a28a4372a7d3c9c12cc5d01071c5e97
https://doi.org/10.1111/ene.15626
https://doi.org/10.1111/ene.15626
Autor:
Alfredo Santalla, Gisela Nogales-Gadea, Alberto Blázquez Encinar, Irene Vieitez, Adrian González-Quintana, Pablo Serrano-Lorenzo, Inés García Consuegra, Sara Asensio, Alfonsina Ballester-Lopez, Guillem Pintos-Morell, Jaume Coll-Cantí, Helios Pareja-Galeano, Jorge Díez-Bermejo, Margarita Pérez, Antoni L. Andreu, Tomàs Pinós, Joaquín Arenas, Miguel A. Martín, Alejandro Lucia
Publikováno v:
BMC Genomics, Vol 18, Iss S8, Pp 39-47 (2017)
Abstract Background We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322–8). Several caveats w
Externí odkaz:
https://doaj.org/article/59b83f2c1ec94ef6ac54173fb34c8252
Autor:
Victoria Cerrada, Marta García-López, Ana Moreno-Izquierdo, Cristina Villaverde, Olga Zurita, Maria Inmaculada Martin-Merida, Joaquín Arenas, Carmen Ayuso, M. Esther Gallardo
Publikováno v:
Stem Cell Research, Vol 40, Iss , Pp - (2019)
Human iPSC line, IISHDOi006-A, was obtained from fibroblasts of a patient with Dominant Optic Atrophy (DOA) carrying a heterozygous mutation in the gene ACO2: c.1999G>A; p.Glu667Lys. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered
Externí odkaz:
https://doaj.org/article/388b1e08b1144303abe5630c18f0a82d