Zobrazeno 1 - 10
of 93
pro vyhledávání: '"Francisca, Diaz"'
Autor:
Francisca Diaz-Gonzalez, Javier M. Sacedo-Gutiérrez, Stephen R. F. Twigg, Eduardo Calpena, Fernando E. Carceller-Benito, Manuel Parrón-Pajares, Fernando Santos-Simarro, Karen E. Heath
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Introduction: Saethre-Chotzen syndrome, a craniosynostosis syndrome characterized by the premature closure of the coronal sutures, dysmorphic facial features and limb anomalies, is caused by haploinsufficiency of TWIST1. Although the majority of vari
Externí odkaz:
https://doaj.org/article/e827ad7f17224d91878b038e166912a2
Autor:
Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen, Daniela Nieri, Mario Failli, Huguette Debaix, Beatrice Paola Festa, Natsuko Tokonami, Andrea Raimondi, Alessio Cremonesi, Diego Carrella, Patrick Forny, Stefan Kölker, Francesca Diomedi Camassei, Francisca Diaz, Carlos T. Moraes, Diego Di Bernardo, Matthias R. Baumgartner, Olivier Devuyst
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-21 (2020)
Methylmalonic acidemia is an inherited metabolic disease caused by loss or mutation of the enzyme MMUT. Here the authors use cell and animal models to show that MMUT mutations lead to defective mitophagy and stress in kidney cells, contributing to th
Externí odkaz:
https://doaj.org/article/234e7b45b1d0490a93784df24510bfa0
Autor:
Claudia V Pereira, Susana Peralta, Tania Arguello, Sandra R Bacman, Francisca Diaz, Carlos T Moraes
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 2, Pp 1-17 (2020)
Abstract Myopathies are common manifestations of mitochondrial diseases. To investigate whether gene replacement can be used as an effective strategy to treat or cure mitochondrial myopathies, we have generated a complex I conditional knockout mouse
Externí odkaz:
https://doaj.org/article/6c69102eb710425295939e5f7c462f83
Publikováno v:
JCI Insight, Vol 5, Iss 21 (2020)
Complex I (also known as NADH-ubiquinone oxidoreductase) deficiency is the most frequent mitochondrial disorder present in childhood. NADH-ubiquinone oxidoreductase iron-sulfur protein 3 (NDUFS3) is a catalytic subunit of the mitochondrial complex I;
Externí odkaz:
https://doaj.org/article/bc79422302af4239856dcec7ae4756cf
Autor:
Maxim Jestin, Senta M. Kapnick, Tatyana N. Tarasenko, Cassidy T. Burke, Patricia M. Zerfas, Francisca Diaz, Hilary Vernon, Larry N. Singh, Ronald J. Sokol, Peter J. McGuire
Publikováno v:
Molecular Metabolism, Vol 37, Iss , Pp 100981- (2020)
Objective: In individuals with mitochondrial disease, respiratory viral infection can result in metabolic decompensation with mitochondrial hepatopathy. Here, we used a mouse model of liver-specific Complex IV deficiency to study hepatic allostasis d
Externí odkaz:
https://doaj.org/article/57eee9318a0149fdab6d8bbe758fd63f
Autor:
Mariana del Pino, Victoria Huckstadt, Francisca Diaz‐Gonzalez, Maria Gabriela Obregon, Karen E. Heath, Virginia Fano
Publikováno v:
American Journal of Medical Genetics Part A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a79643523fa3e7c673271b6947b757dc
https://doi.org/10.1002/ajmg.a.63227
https://doi.org/10.1002/ajmg.a.63227
Autor:
Xueting Luo, Marcio Ribeiro, Eric R. Bray, Do-Hun Lee, Benjamin J. Yungher, Saloni T. Mehta, Kinjal A. Thakor, Francisca Diaz, Jae K. Lee, Carlos T. Moraes, John L. Bixby, Vance P. Lemmon, Kevin K. Park
Publikováno v:
Cell Reports, Vol 15, Iss 2, Pp 398-410 (2016)
Signal transducer and activator of transcription 3 (STAT3) is a transcription factor central to axon regrowth with an enigmatic ability to act in different subcellular regions independently of its transcriptional roles. However, its roles in mature C
Externí odkaz:
https://doaj.org/article/b2e6c11a964241089ed85d9b5858d3c9
Autor:
Adela Guarás, Ester Perales-Clemente, Enrique Calvo, Rebeca Acín-Pérez, Marta Loureiro-Lopez, Claire Pujol, Isabel Martínez-Carrascoso, Estefanía Nuñez, Fernando García-Marqués, María Angeles Rodríguez-Hernández, Ana Cortés, Francisca Diaz, Acisclo Pérez-Martos, Carlos T. Moraes, Patricio Fernández-Silva, Aleksandra Trifunovic, Plácido Navas, Jesús Vazquez, Jose A. Enríquez
Publikováno v:
Cell Reports, Vol 15, Iss 1, Pp 197-209 (2016)
Electrons feed into the mitochondrial electron transport chain (mETC) from NAD- or FAD-dependent enzymes. A shift from glucose to fatty acids increases electron flux through FAD, which can saturate the oxidation capacity of the dedicated coenzyme Q (
Externí odkaz:
https://doaj.org/article/398fede521514fbaa72a53db1ef4ebdc
Publikováno v:
Psychonomic Bulletin & Review. 29:882-890
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4487d3a766c32c5236f789170ecc90d8
https://doi.org/10.3758/s13423-021-02026-4
https://doi.org/10.3758/s13423-021-02026-4
Publikováno v:
Cells, Vol 9, Iss 10, p 2197 (2020)
Murine fibroblasts deficient in mitochondria respiratory complexes III (CIII) and IV (CIV) produced by either the ablation of Uqcrfs1 (encoding for Rieske iron sulfur protein, RISP) or Cox10 (encoding for protoheme IX farnesyltransferase, COX10) gene
Externí odkaz:
https://doaj.org/article/c1e1c562dca74b799889ee4053e0325a