Resultados globales: 7 registros encontrados en 0.01 segundos.
Artículos, Encontrados 6 registros
Documentos de investigación, Encontrados 1 registros
Artículos Encontrados 6 registros  
1.
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 (HSR-TIGET), Milan, Italy) ; 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 Seves, Ramon (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, Vol. 8 (january 2018) , p. 152-165  
2.
11 p, 1.0 MB Cardiomyocyte hypertrophy induced by Endonuclease G deficiency requires reactive oxygen radicals accumulation and is inhibitable by the micropeptide humanin / Blasco, Natividad (Cell Signaling and Apoptosis group, Universitat de Lleida - IRBLleida, Lleida, Spain) ; Cámara, Yolanda (Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona and CIBERER, Barcelona, Spain) ; Núñez, Estefanía (Cardiovascular Proteomics group, Spanish National Center for Cardiovascular Research (CNIC) and CIBERCV Madrid, Spain) ; Beà, Aida (Cell Signaling and Apoptosis group, Universitat de Lleida - IRBLleida, Lleida, Spain) ; Barés, Gisel (Cell Signaling and Apoptosis group, Universitat de Lleida - IRBLleida, Lleida, Spain) ; Forné, Carles (Biostatistics Unit, IRBLleida, Universitat de Lleida, Lleida, Spain) ; Ruíz-Meana, Marisol (Cardiovascular Diseases Research Group, VHIR and CIBERCV, Barcelona, Spain) ; Girón, Cristina (Cell Signaling and Apoptosis group, Universitat de Lleida - IRBLleida, Lleida, Spain) ; Barba, Ignasi (Cardiovascular Diseases Research Group, VHIR and CIBERCV, Barcelona, Spain) ; García-Arumí, Elena (Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona and CIBERER, Barcelona, Spain) ; García Dorado, David (Cardiovascular Diseases Research Group, VHIR and CIBERCV, Barcelona, Spain) ; Vázquez, Jesús (Cardiovascular Proteomics group, Spanish National Center for Cardiovascular Research (CNIC) and CIBERCV Madrid, Spain) ; Martí Seves, Ramon (Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona and CIBERER, Barcelona, Spain) ; Llovera, Marta (Cell Signaling and Apoptosis group, Universitat de Lleida - IRBLleida, Lleida, Spain) ; Sanchis, Daniel (Cell Signaling and Apoptosis group, Universitat de Lleida - IRBLleida, Lleida, Spain)
The endonuclease G gene (Endog), which codes for a mitochondrial nuclease, was identified as a determinant of cardiac hypertrophy. How ENDOG controls cardiomyocyte growth is still unknown. Thus, we aimed at finding the link between ENDOG activity and cardiomyocyte growth. [...]
2018 - 10.1016/j.redox.2018.02.021
Redox biology, Vol. 16 (march 2018) , p. 146-156  
3.
23 p, 4.0 MB MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria / Dalla Rosa, Ilaria (MRC Mill Hill Laboratory, London, United Kingdom) ; Cámara, Yolanda (Vall d'Hebron Institut de Recerca. Laboratori de Trastorns Mitocondrials) ; Durigon, Romina (MRC Mill Hill Laboratory) ; Moss, Chloe F. (MRC Mill Hill Laboratory) ; Vidoni, Sara (MRC Mitochondrial Biology Unit, Wellcome Trust-MRC Building) ; Akman, Gokhan (MRC Mill Hill Laboratory) ; Hunt, Lilian (MRC Mill Hill Laboratory) ; Johnson, Mark A. (MRC Mitochondrial Biology Unit, Wellcome Trust-MRC Building) ; Grocott, Sarah (Mitochondrial Genetics Group, Nuffield Department of Obstetrics and Gynaecology, Women's Centre, The John Radcliffe Hospital, Oxford, United Kingdom) ; Wang, Liya (Department of Anatomy, Physiology and Biochemistry, The Swedish University of Agricultural Sciences, Biomedical Center) ; Thorburn, David R. (Murdoch Childrens Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital) ; Hirano, Michio (Department of Neurology, Columbia University Medical Center, New York, New York, United States of America) ; Poulton, Joanna (Mitochondrial Genetics Group, Nuffield Department of Obstetrics and Gynaecology, Women's Centre, The John Radcliffe Hospital) ; Taylor, Robert W. (Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, The Medical School, Newcastle upon Tyne) ; Elgar, Greg (MRC Mill Hill Laboratory) ; Martí Seves, Ramon (Biomedical Network Research Centre on Rare Diseases, Instituto de Salud Carlos III) ; Voshol, Peter (Institute of Metabolic Science, University of Cambridge) ; Holt, Ian J. (MRC Mill Hill Laboratory, London) ; Spinazzola, Antonella (MRC Mill Hill Laboratory) ; Universitat Autònoma de Barcelona
MPV17 is a mitochondrial inner membrane protein whose dysfunction causes mitochondrial DNA abnormalities and disease by an unknown mechanism. Perturbations of deoxynucleoside triphosphate (dNTP) pools are a recognized cause of mitochondrial genomic instability; therefore, we determined DNA copy number and dNTP levels in mitochondria of two models of MPV17 deficiency. [...]
2016 - 10.1371/journal.pgen.1005779
PLoS Genetics, Vol. 12 (january 2016)  
4.
17.3 KB Sodium valproate increases the brain isoform of glycogen phosphorylase : looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro / de Luna, Noemí (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Brull, Astrid (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Guiu, Josep Maria (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Lucia, Alejandro (Instituto de Investigación 'i+12') ; Martin, Miguel Angel (Instituto de Investigación 'i+12') ; Arenas, Joaquin (Instituto de Investigación 'i+12') ; Martí Seves, Ramon (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Andreu, Antoni L. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pinós, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
McArdle disease, also termed 'glycogen storage disease type V', is a disorder of skeletal muscle carbohydrate metabolism caused by inherited deficiency of the muscle-specific isoform of glycogen phosphorylase (GP-MM). [...]
2015 - 10.1242/dmm.020230
Disease Models & Mechanisms, Vol. 8 (may 2015) , p. 467-472  
5.
8 p, 607.9 KB Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) / González-Vioque, Emiliano (Hospital Universitary Vall d'Hebron. Institut de Recerca) ; Torres-Torronteras, Javier (Hospital Universitary Vall d'Hebron. Institut de Recerca) ; Andreu, Antoni L. (Hospital Universitary Vall d'Hebron. Institut de Recerca) ; Martí Seves, Ramon (Hospital Universitary 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)  
6.
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 Seves, Ramon (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Clotet, Bonaventura (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Ampudia, Rosa Maria (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) ; Esté, 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)  

Documentos de investigación Encontrados 1 registros  
1.
239 p, 7.3 MB Terapia génica para el MNGIE : estudio comparativo de diferentes vectores adeno-asociados en el modelo preclínico de la enfermedad / Cabrera Pérez, Raquel ; Martí Seves, Ramon, dir. ; Vila Bover, Miquel, dir. (Universitat Autònoma de Barcelona. Departament de Bioquímica i Biologia Molecular) ; Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular
El MNGIE (encefalomiopatía neurogastrointestinal mitocondrial) es una enfermedad rara de herencia autosómica recesiva que provoca afectación de la función muscular, neuronal y gastrointestinal y cuya esperanza de vida se sitúa en torno a los 37 años. [...]
MNGIE (Mitochondrial NeuroGastroIntestinal Encephalomyopathy) is a rare autosomal recessive disease characterized by muscular, neuronal and gastrointestinal symptoms. The average life-span of MNGIE patients is 37 years. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2017.  

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