Resultats globals: 9 registres trobats en 0.02 segons.
Articles, 8 registres trobats
Documents de recerca, 1 registres trobats
Articles 8 registres trobats  
1.
35 p, 972.9 KB Therapy Prospects for Mitochondrial DNA Maintenance Disorders / Ramón, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Vila-Julià, Ferran (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Molina-Granada, David (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Molina-Berenguer, Miguel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Melià, Maria Jesús (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Garcia-Arumi, Elena (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Torres-Torronteras, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Cámara, Yolanda (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martí, Ramon A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Mitochondrial DNA depletion and multiple deletions syndromes (MDDS) constitute a group of mitochondrial diseases defined by dysfunctional mitochondrial DNA (mtDNA) replication and maintenance. As is the case for many other mitochondrial diseases, the options for the treatment of these disorders are rather limited today. [...]
2021 - 10.3390/ijms22126447
International journal of molecular sciences, Vol. 22 (june 2021)  
2.
8 p, 618.0 KB A Transcriptomic Approach to Search for Novel Phenotypic Regulators in McArdle Disease / Nogales, Gisela (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Consuegra-García, Inés (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rubio, Juan C. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Arenas, Joaquín (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Cuadros, Marc (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Cámara, Yolanda (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Torres-Torronteras, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fiuza-Luces, Carmen (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Lucia, Alejandro (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín, Miguel A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Garcia-Arumi, Elena (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Andreu Périz, Antoni Lluís (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
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 on several genes and proteins of skeletal muscle in McArdle patients. [...]
2012 - 10.1371/journal.pone.0031718
PloS one, Vol. 7 (february 2012)  
3.
12 p, 2.8 MB Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides / Vila-Julià, Ferran (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Cabrera-Pérez, Raquel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Cámara, Yolanda (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Molina-Berenguer, Miguel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Lope-Piedrafita, Silvia (Universitat Autònoma de Barcelona. Servei de Ressonància Magnètica Nuclear) ; Hirano, Michio (Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Irving Medical Center) ; Mingozzi, Federico (Spark Therapeutics) ; Torres-Torronteras, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martí, Ramon A. (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Preclinical studies have shown that gene therapy is a feasible approach to treat mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). However, the genetic murine model of the disease (Tymp/Upp1 double knockout, dKO) has a limited functional phenotype beyond the metabolic imbalances, and so the studies showing efficacy of gene therapy have relied almost exclusively on demonstrating correction of the biochemical phenotype. [...]
2020 - 10.1016/j.ebiom.2020.103133
EBioMedicine, Vol. 62 (november 2020)  
4.
22 p, 7.3 MB Yeast Ppz1 protein phosphatase toxicity involves the alteration of multiple cellular targets / Velázquez, Diego (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Albacar, Marcel (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Zhang, Chunyi (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Calafí, Carlos (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; López Malo, María (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Torres Torronteras, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martí, Ramón 1915-1994 (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Kovalchuk, Sergey I. (University of Southern Denmark. Department of Biochemistry and Molecular Biology) ; Pinson, Benoit (Centre National de la Recherche Scientifique (França)) ; Jensen, Ole N. (University of Southern Denmark. Department of Biochemistry and Molecular Biology) ; Daignan-Fornier, Bertrand (Centre National de la Recherche Scientifique (França)) ; Casamayor Gracia, Antonio (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Ariño Carmona, Joaquín (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular
Control of the protein phosphorylation status is a major mechanism for regulation of cellular processes, and its alteration often lead to functional disorders. Ppz1, a protein phosphatase only found in fungi, is the most toxic protein when overexpressed in Saccharomyces cerevisiae. [...]
2020 - 10.1038/s41598-020-72391-y
Scientific reports, Vol. 10 (September 2020) , art. 15613  
5.
14 p, 3.9 MB Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice / Blázquez-Bermejo, Cora (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Molina-Granada, David (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Vila-Julià, Ferran (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Jiménez-Heis, Daniel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Zhou, Xiaoshan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Torres-Torronteras, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Karlsson, Anna (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Martí, Ramon A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Cámara, Yolanda (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Thymidine kinase 2 (TK2) catalyses the phosphorylation of deoxythymidine (dThd) and deoxycytidine (dCtd) within mitochondria. TK2 deficiency leads to mtDNA depletion or accumulation of multiple deletions. [...]
2019 - 10.1016/j.ebiom.2019.07.042
EBioMedicine, Vol. 46 (july 2019) , p. 342-355  
6.
14 p, 2.3 MB Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE / Yadak, Rana (Department of Hematology, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Cabrera-Pérez, Raquel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Torres-Torronteras, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Bugiani, Marianna (Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands) ; Haeck, Joost C. (Department of Radiology & Nuclear Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Huston, Marshall W. (Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Bogaerts, Elly (Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Goffart, Steffi (Department of Biology, University of Eastern Finland, Joensuu, Finland) ; Jacobs, Edwin H. (Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Stok, Merel (Department of Pediatrics, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Leonardelli, Lorena (San Raffaele Telethon Institute for Gene Therapy (Milà, Itàlia)) ; Biasco, Luca (University College of London (UCL), Great Ormond Street Institute of Child Health (ICH), London, UK) ; Verdijk, Robert M. (Department of Pathology, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Bernsen, Monique R. (Department of Radiology & Nuclear Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Ruijter, George (Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Martí, Ramon A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Wagemaker, Gerard (Raisa Gorbacheva Memorial Research Institute for Pediatric Oncology and Hematology, Saint Petersburg, Russia) ; van Til, Niek P. (Laboratory of Translational Immunology, University Medical Center Utrecht, Utrecht, the Netherlands) ; de Coo, Irenaeus F. M. (Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Universitat Autònoma de Barcelona
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by thymidine phosphorylase (TP) deficiency resulting in systemic accumulation of thymidine (d-Thd) and deoxyuridine (d-Urd) and characterized by early-onset neurological and gastrointestinal symptoms. [...]
2018 - 10.1016/j.omtm.2018.01.001
Molecular Therapy. Methods & Clinical Development, Vol. 8 (january 2018) , p. 152-165  
7.
8 p, 607.9 KB Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) / González-Vioque, Emiliano (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Torres-Torronteras, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Andreu Périz, Antoni Lluís (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martí, Ramon A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a severe human disease caused by mutations in TYMP, the gene encoding thymidine phosphorylase (TP). It belongs to a broader group of disorders characterized by a pronounced reduction in mitochondrial DNA (mtDNA) copy number in one or more tissues. [...]
2011 - 10.1371/journal.pgen.1002035
PLoS Genetics, Vol. 7 (march 2011)  
8.
22 p, 3.3 MB The G1/S Specific Cyclin D2 Is a Regulator of HIV-1 Restriction in Non-proliferating Cells / Badia, Roger (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Pujantell, Maria (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Riveira Muñoz, Eva (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Puig, Teresa (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Torres Torronteras, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martí, Ramon A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Clotet Sala, Bonaventura (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Ampudia Carrasco, Rosa María (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Vives Pi, Marta (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Este, José (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Ballana, Ester (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa)
Macrophages are a heterogeneous cell population strongly influenced by differentiation stimuli that become susceptible to HIV-1 infection after inactivation of the restriction factor SAMHD1 by cyclin-dependent kinases (CDK). [...]
2016 - 10.1371/journal.ppat.1005829
PLOS pathogens, Vol. 12 Núm. 8 (August 2016)  

Documents de recerca 1 registres trobats  
1.
319 p, 10.8 MB Avenços en la teràpia gènica per al MNGIE amb vectors adenoassociats : validació en un model millorat de la malaltia i optimització de seqüència del gen terapèutic / Vila Julià, Ferran ; Martí, Ramon A., dir. ; Torres Torronteras, Javier, dir. ; Messeguer Navarro, Anna, dir.
El MNGIE és una malaltia mitocondrial d'herència autosòmica recessiva causada per mutacions en el gen TYMP, que codifica l'enzim timidina fosforilasa (TP). La TP catalitza la degradació de timidina (dThd) i desoxiuridina (dUrd), i la seva absència en pacients causa l'acumulació sistèmica d'aquests metabòlits, tòxica per la funció mitocondrial. [...]
El MNGIE (Mitochondrial NeuroGastroIntestinal Encephalomyopathy) es una enfermedad mitocondrial de herencia autosómica recesiva causada por mutaciones en el gen TYMP, que codifica la enzima timidina fosforilasa (TP). [...]
MNGIE (Mitochondrial NeuroGastroIntestinal Encephalomyopathy) is an autosomal recessive disease caused by mutations in TYMP, which encodes for the enzyme thymidine phosphorylase (TP). TP catalyses the first step of the catabolism of the nucleosides thymidine (dThd) and deoxyuridine (dUrd). [...]

2021  

Vegeu també: autors amb noms similars
3 Torres-Torronteras, J.
Us interessa rebre alertes sobre nous resultats d'aquesta cerca?
Definiu una alerta personal via correu electrònic o subscribiu-vos al canal RSS.