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21 results on '"Meznaric, Marija"'

14. The EuroBioBank Network : ten years of hands-on experience of collaborative, transnational biobanking for rare diseases

Author

Mora, Marina, Angelini, Corrado, Bignami, Fabrizia, Bodin, Anne-Mary, Crimi, Marco, Di Donato, Jeanne-Helene, Felice, Alex, Jaeger, Cecile, Karcagi, Veronika, LeCam, Yann, Lynn, Stephen, Meznaric, Marija, Moggio, Maurizio, Monaco, Lucia, Politano, Luisa, Posada De La Paz, Manuel, Saker, Safaa, Schneiderat, Peter, Ensini, Monica, Garavaglia, Barbara, Gurwitz, David, Johnson, Diana, Muntoni, Francesco, Puymirat, Jack, Reza, Mojgan, Voit, Thomas, Baldo, Chiara, Bricarelli, Franca Dagna, Goldwurm, Stefano, Merla, Giuseppe, Renieri, Alessandro, Zatloukal, Kurt, Filocamo, Mirella, Lochmuller, Hanns, and Pegoraro, Elena

Subjects
Biobanks -- Europe, Biological specimens -- Europe, Rare diseases
Abstract

The EuroBioBank (EBB) network (www.eurobiobank.org) is the first operating network of biobanks in Europe to provide human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases (RDs). The EBB was established in 2001 to facilitate access to RD biospecimens and associated data; it obtained funding from the European Commission in 2002 (5th framework programme) and started operation in 2003. The set-up phase, during the EC funding period 2003–2006, established the basis for running the network; the following consolidation phase has seen the growth of the network through the joining of new partners, better network cohesion, improved coordination of activities, and the development of a quality-control system. During this phase the network participated in the EC-funded TREAT-NMD programme and was involved in planning of the European Biobanking and Biomolecular Resources Research Infrastructure. Recently, EBB became a partner of RD-Connect, an FP7 EU programme aimed at linking RD biobanks, registries, and bioinformatics data. Within RD-Connect, EBB contributes expertise, promotes high professional standards, and best practices in RD biobanking, is implementing integration with RD patient registries and ‘omics’ data, thus challenging the fragmentation of international cooperation on the field., EBB thanks EURORDIS for administrative support, Fondazione Telethon for administrative and financial support, the EC for providing funds (grants: FP5 EuroBioBank, contract N. 02769; FP6 TREAT-NMD, contract N. 036825; and FP7 RD-Connect, grant agreement N. 305444), and AFM for the vision of the network and for encouraging the network to get together. EBB gratefully acknowledges patients and collaborating clinicians/researchers for contributing samples and data to the network, and biobank staffs for running the EBB biobanks. The MRC support to the biobank in London and Newcastle is also gratefully acknowledged., peer-reviewed

Published
2015

15. Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

Author

Kalko, Susana Graciela, Jou, Cristina, Paco, Sonia, Meznaric, Marija, Rogac, Mihael, Jekovec-Vrhovsek, Maja, Sciacco, Monica, Moggio, Maurizio, Fagiolari, Gigliola, De Paepe, Boél, De Meirleir, Linda, Ferrer, Isidre, Jimenez-Mallebrera, Cecilia, Reproduction and Genetics, and Neurogenetics

Subjects
TK2, mitochondrial myopathy, p53 signalling pathway
Abstract

Background Mutations in the gene encoding thymidine kinase 2 (TK2) result in the myopathic form of mitochondrial DNA depletion syndrome which is a mitochondrial encephalomyopathy presenting in children. In order to unveil some of the mechanisms involved in this pathology and to identify potential biomarkers and therapeutic targets we have investigated the gene expression profile of human skeletal muscle deficient for TK2 using cDNA microarrays. Results We have analysed the whole transcriptome of skeletal muscle from patients with TK2 mutations and compared it to normal muscle and to muscle from patients with other mitochondrial myopathies. We have identified a set of over 700 genes which are differentially expressed in TK2 deficient muscle. Bioinformatics analysis reveals important changes in muscle metabolism, in particular, in glucose and glycogen utilisation, and activation of the starvation response which affects aminoacid and lipid metabolism. We have identified those transcriptional regulators which are likely to be responsible for the observed changes in gene expression. Conclusion Our data point towards the tumor suppressor p53 as the regulator at the centre of a network of genes which are responsible for a coordinated response to TK2 mutations which involves inflammation, activation of muscle cell death

Published
2014

16. GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

Author

Montero, Raquel, primary, Yubero, Delia, additional, Villarroya, Joan, additional, Henares, Desiree, additional, Jou, Cristina, additional, Rodríguez, Maria Angeles, additional, Ramos, Federico, additional, Nascimento, Andrés, additional, Ortez, Carlos Ignacio, additional, Campistol, Jaume, additional, Perez-Dueñas, Belen, additional, O'Callaghan, Mar, additional, Pineda, Mercedes, additional, Garcia-Cazorla, Angeles, additional, Oferil, Jaume Colomer, additional, Montoya, Julio, additional, Ruiz-Pesini, Eduardo, additional, Emperador, Sonia, additional, Meznaric, Marija, additional, Campderros, Laura, additional, Kalko, Susana G., additional, Villarroya, Francesc, additional, Artuch, Rafael, additional, and Jimenez-Mallebrera, Cecilia, additional

Published
2016
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18. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

Author

Mora, Marina, primary, Angelini, Corrado, additional, Bignami, Fabrizia, additional, Bodin, Anne-Mary, additional, Crimi, Marco, additional, Di Donato, Jeanne- Hélène, additional, Felice, Alex, additional, Jaeger, Cécile, additional, Karcagi, Veronika, additional, LeCam, Yann, additional, Lynn, Stephen, additional, Meznaric, Marija, additional, Moggio, Maurizio, additional, Monaco, Lucia, additional, Politano, Luisa, additional, de la Paz, Manuel Posada, additional, Saker, Safaa, additional, Schneiderat, Peter, additional, Ensini, Monica, additional, Garavaglia, Barbara, additional, Gurwitz, David, additional, Johnson, Diana, additional, Muntoni, Francesco, additional, Puymirat, Jack, additional, Reza, Mojgan, additional, Voit, Thomas, additional, Baldo, Chiara, additional, Bricarelli, Franca Dagna, additional, Goldwurm, Stefano, additional, Merla, Giuseppe, additional, Pegoraro, Elena, additional, Renieri, Alessandra, additional, Zatloukal, Kurt, additional, Filocamo, Mirella, additional, and Lochmüller, Hanns, additional

Published
2014
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19. Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

Author

Kalko, Susana Graciela, primary, Paco, Sonia, additional, Jou, Cristina, additional, Rodríguez, Maria Angels, additional, Meznaric, Marija, additional, Rogac, Mihael, additional, Jekovec-Vrhovsek, Maja, additional, Sciacco, Monica, additional, Moggio, Maurizio, additional, Fagiolari, Gigliola, additional, De Paepe, Boel, additional, De Meirleir, Linda, additional, Ferrer, Isidre, additional, Roig-Quilis, Manel, additional, Munell, Francina, additional, Montoya, Julio, additional, López-Gallardo, Ester, additional, Ruiz-Pesini, Eduardo, additional, Artuch, Rafael, additional, Montero, Raquel, additional, Torner, Ferran, additional, Nascimento, Andres, additional, Ortez, Carlos, additional, Colomer, Jaume, additional, and Jimenez-Mallebrera, Cecilia, additional

Published
2014
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20. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.

Author

Mora, Marina, Angelini, Corrado, Bignami, Fabrizia, Bodin, Anne-Mary, Crimi, Marco, Di Donato, Jeanne- Hélène, Felice, Alex, Jaeger, Cécile, Karcagi, Veronika, LeCam, Yann, Lynn, Stephen, Meznaric, Marija, Moggio, Maurizio, Monaco, Lucia, Politano, Luisa, de la Paz, Manuel Posada, Saker, Safaa, Schneiderat, Peter, Ensini, Monica, and Garavaglia, Barbara

Subjects
BIOBANKS, NUCLEOTIDE sequencing, EXONS (Genetics), RARE diseases, BIOINFORMATICS
Abstract

The EuroBioBank (EBB) network (www.eurobiobank.org) is the first operating network of biobanks in Europe to provide human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases (RDs). The EBB was established in 2001 to facilitate access to RD biospecimens and associated data; it obtained funding from the European Commission in 2002 (5th framework programme) and started operation in 2003. The set-up phase, during the EC funding period 2003-2006, established the basis for running the network; the following consolidation phase has seen the growth of the network through the joining of new partners, better network cohesion, improved coordination of activities, and the development of a quality-control system. During this phase the network participated in the EC-funded TREAT-NMD programme and was involved in planning of the European Biobanking and Biomolecular Resources Research Infrastructure. Recently, EBB became a partner of RD-Connect, an FP7 EU programme aimed at linking RD biobanks, registries, and bioinformatics data. Within RD-Connect, EBB contributes expertise, promotes high professional standards, and best practices in RD biobanking, is implementing integration with RD patient registries and 'omics' data, thus challenging the fragmentation of international cooperation on the field. [ABSTRACT FROM AUTHOR]

Published
2015
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