Depósito Digital de Documentos de la UAB Encontrados 3 registros  La búsqueda tardó 0.00 segundos. 
1.
8 p, 1.5 MB Identification and characterization of new RNASEH1 mutations associated with PEO syndrome and multiple mitochondrial DNA deletions / Carreño-Gago, L. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Blázquez-Bermejo, C. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Diaz-Manera, Jordi. (Institut d'Investigació Biomèdica Sant Pau) ; Cámara, Y. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Gallardo, E. (Institut d'Investigació Biomèdica Sant Pau) ; Martí, R. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Torres-Torronteras, J. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; García-Arumí, E. (Àrea de Genètica Clínica i Molecular. Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
Mitochondrial DNA (mtDNA) depletion and deletion syndrome encompasses a group of disorders caused by mutations in genes involved in mtDNA replication and maintenance. The clinical phenotype ranges from fatal infantile hepatocerebral forms to mild adult onset progressive external ophthalmoplegia (PEO). [...]
2019 - 10.3389/fgene.2019.00576
Frontiers in genetics, Vol. 10 Núm. JUN (2019) , p. 576  
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)  

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