Search Results - "Andreu, Antonio L"

Recommendations for robust and reproducible preclinical research in personalised medicine by Fosse, Vibeke, Oldoni, Emanuela, Bietrix, Florence, Budillon, Alfredo, Daskalopoulos, Evangelos P, Fratelli, Maddalena, Gerlach, Björn, Groenen, Peter M A, Hölter, Sabine M, Menon, Julia M L, Mobasheri, Ali, Osborne, Nikki, Ritskes-Hoitinga, Merel, Ryll, Bettina, Schmitt, Elmar, Ussi, Anton, Andreu, Antonio L, McCormack, Emmet

“…Personalised medicine is a medical model that aims to provide tailor-made prevention and treatment strategies for defined groups of individuals. The concept…”
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Quantification of mitochondrial DNA copy number: pre-analytical factors by Andreu, Antonio L, Martinez, Ramiro, Marti, Ramon, García-Arumí, Elena

“…Mitochondrial DNA (mtDNA) content is important for understanding many cellular processes. Several pre-analytical factors, from sample collection to DNA…”
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Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report by Oldoni, Emanuela, Saunders, Gary, Bietrix, Florence, Garcia Bermejo, Maria Laura, Niehues, Anna, ’t Hoen, Peter A. C., Nordlund, Jessica, Hajduch, Marian, Scherer, Andreas, Kivinen, Katja, Pitkänen, Esa, Mäkela, Tomi Pekka, Gut, Ivo, Scollen, Serena, Kozera, Łukasz, Esteller, Manel, Shi, Leming, Ussi, Anton, Andreu, Antonio L., van Gool, Alain J.

“…Personalised medicine (PM) presents a great opportunity to improve the future of individualised healthcare. Recent advances in -omics technologies have led to…”
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Digitalisation and COVID-19: The Perfect Storm by Horgan, Denis, Hackett, Joanne, Westphalen, C. Benedikt, Kalra, Dipak, Richer, Etienne, Romao, Mario, Andreu, Antonio L., Lal, Jonathan A., Bernini, Chiara, Tumiene, Birute, Boccia, Stefania, Montserrat, Antoni

“…“A ship in the harbour is safe, but that is not what ships are built for,” observed that sage 19th century philosopher William Shedd. In other words,…”
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Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase by Spinazzola, Antonella, Marti, Ramon, Nishino, Ichizo, Andreu, Antonio L., Naini, Ali, Tadesse, Saba, Pela, Ivana, Zammarchi, Enrico, Donati, M. Alice, Oliver, Juan A., Hirano, Michio

“…Mitochondrialneurogastrointestinalencephalomyopathy (MNGIE) is an autosomal recessive human disease due to mutations in the thymidine phosphorylase (TP) gene…”
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Quality assessment of human mitochondrial DNA quantification: MITONAUTS, an international multicentre survey by Côté, Hélène C F, Gerschenson, Mariana, Walker, Ulrich A, Miro, Oscar, Garrabou, Gloria, Hammond, Emma, Villarroya, Joan, Giralt, Marta, Villarroya, Francesc, Cinque, Paola, Garcia-Arumi, Elena, Andreu, Antonio L, Pinti, Marcello, Cossarizza, Andrea

“…Mitochondrial DNA quantification by qPCR is used in the context of many diseases and toxicity studies but comparison of results between laboratories is…”
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Expression and glycogenic effect of glycogen-targeting protein phosphatase 1 regulatory subunit GL in cultured human muscle by Montori-Grau, Marta, Guitart, Maria, Lerin, Carles, Andreu, Antonio L, Newgard, Christopher B, García-Martínez, Cèlia, Gómez-Foix, Anna M

“…Glycogen-targeting PP1 (protein phosphatase 1) subunit G(L) (coded for by the PPP1R3B gene) is expressed in human, but not rodent, skeletal muscle. Its effects…”
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The ROS-sensitive microRNA-9/9 controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome by Meseguer, Salvador, Martínez-Zamora, Ana, García-Arumí, Elena, Andreu, Antonio L, Armengod, M-Eugenia

“…Mitochondrial dysfunction activates mitochondria-to-nucleus signaling pathways whose components are mostly unknown. Identification of these components is…”
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Biomarker Research and Development for Coronavirus Disease 2019 (COVID-19): European Medical Research Infrastructures Call for Global Coordination by Oldoni, Emanuela, van Gool, Alain, García Bermejo, Laura, Scherer, Andreas, Mayrhofer, Michaela Th, Florindi, Francesco, Demotes, Jacques, Kubiak, Christine, Fauvel, Anne-Charlotte, Bietrix, Florence, Ussi, Anton, Andreu, Antonio L

“…An effective response to the coronavirus disease 2019 (COVID-19) pandemic requires a better understanding of the biology of the infection and the…”
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A call to action for translational sciences in COVID-19 and future pandemics by Wan, Kanny K., Davis, Danielle, Lee, Taylor N., Ford-Scheimer, Stephanie L., Andreu, Antonio L., Bietrix, Florence, Bryans, Justin, Castro, Marco T., Chiba, Nobuyoshi, Faupel-Badger, Jessica M., Haynes, Brittany, Hirasawa, Ryutaro, Morel, Carlos M., Souza, Thiago Moreno L., Morrow, David, Munro, Trent, Newman, Stuart, Ussi, Anton E., Zorzal, Poliana B., Hall, Matthew D., Lo, Donald C., Cutillo, Christine M.

“…Translation Together, a transnational consortium of translational research organizations, reflects on successes and challenges in regional COVID-19 pandemic…”
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EATRIS, the European Research Infrastructure for Translational Medicine and A_IATRIS, its Italian node by Moretti, Franca, Andreu, Antonio L., Ussi, Anton, Minghetti, Luisa

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Evaluating Translational Methods for Personalized Medicine—A Scoping Review by Fosse, Vibeke, Oldoni, Emanuela, Gerardi, Chiara, Banzi, Rita, Fratelli, Maddalena, Bietrix, Florence, Ussi, Anton, Andreu, Antonio L., McCormack, Emmet

“…The introduction of personalized medicine, through the increasing multi-omics characterization of disease, brings new challenges to disease modeling. The scope…”
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Study designs for clinical trials applied to personalised medicine: a scoping review by Superchi, Cecilia, Brion Bouvier, Florie, Gerardi, Chiara, Carmona, Montserrat, San Miguel, Lorena, Sánchez-Gómez, Luis María, Imaz-Iglesia, Iñaki, Garcia, Paula, Demotes, Jacques, Banzi, Rita, Porcher, Raphaël, Andreu, Antonio L, Bietrix, Florence, Polo-de Santos, Maria del Mar, Fratelli, Maddalena, Fosse, Vibeke, Glaab, Enrico, Girgenrath, Rainer, Grundmann, Alexander, Haro, Josep Maria, Hulstaert, Frank, Jonckheer, Pascale, Matos, Setefilla Luengo, McCormack, Emmet, Mula, Anna Monistrol, Niubo, Albert Sanchez, Oldoni, Emanuela, Torres, Teresa

“…ObjectivePersonalised medicine (PM) allows treating patients based on their individual demographic, genomic or biological characteristics for tailoring the…”
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Enhanced ROS production and antioxidant defenses in cybrids harbouring mutations in mtDNA by Vives-Bauza, Cristofol, Gonzalo, Ricardo, Manfredi, Giovanni, Garcia-Arumi, Elena, Andreu, Antonio L.

“…It has been suggested that mutations in mitochondrial DNA (mtDNA) can produce an increase in reactive oxygen species (ROS) and that this can play a major role…”
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Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances by Ashley, Neil, Adams, Susan, Slama, Abdelhamid, Zeviani, Massimo, Suomalainen, Anu, Andreu, Antonio L., Naviaux, Robert K., Poulton, Joanna

“…Defects in mtDNA maintenance range from fatal multisystem childhood diseases, such as Alpers syndrome, to milder diseases in adults, including mtDNA depletion…”
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Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene by Solano, Abelardo, Roig, Manuel, Vives-Bauza, Cristofol, Hernandez-Peña, Jose, Garcia-Arumi, Elena, Playan, Ana, Lopez-Perez, Manuel J., Andreu, Antonio L., Montoya, Julio

“…We report the molecular findings in two independent patients presenting with progressive generalized dystonia and bilateral striatal necrosis in whom we have…”
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FATP1 localizes to mitochondria and enhances pyruvate dehydrogenase activity in skeletal myotubes by Guitart, Maria, Andreu, Antonio L, García-Arumi, Elena, Briones, Paz, Quintana, Ester, Gómez-Foix, Anna M, García-Martínez, Celia

“…Fatty acid transport protein 1 (FATP1) has been previously immunolocalized in intracellular compartments. Here we show that FATP1 localizes to the mitochondria…”
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Molecular characterization of McArdle’s disease in two large Finnish families by Bruno, Claudio, Löfberg, Mervi, Tamburino, Lucia, Jänkälä, Heidi, Hadjigeorgiou, George M, Andreu, Antonio L, Shanske, Sara, Somer, Hannu, DiMauro, Salvatore

“…We have studied two large unrelated Finnish families with myophosphorylase deficiency (McArdle’s disease). In one, we identified a new nonsense mutation at…”
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Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA by Gonzalo, Ricardo, Garcia-Arumi, Elena, Llige, David, Marti, Ramon, Solano, Abelardo, Montoya, Julio, Arenas, Joaquín, Andreu, Antonio L.

“…We have studied the production of reactive oxygen species (ROS) in transmitochondrial cells, harboring homoplasmic levels of the T14487C mtDNA mutation in the…”
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Evidence for the presence of 5S rRNA in mammalian mitochondria by Magalhães, P J, Andreu, A L, Schon, E A

“…Mammalian mitochondrial ribosomes contain two prokaryotic-like rRNAs, 12S and 16S, both encoded by mitochondrial DNA. As opposed to cytosolic ribosomes,…”
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