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8 p, 618.0 KB |
A Transcriptomic Approach to Search for Novel Phenotypic Regulators in McArdle Disease
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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)
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8 p, 1.3 MB |
Standards recommendations for the Earth BioGenome Project
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Lawniczak, Mara K. N. (Wellcome Sanger Institute (Cambridge)) ;
Durbin, Richard (University of Cambridge. Department of Genetics) ;
Flicek, Paul (Wellcome Sanger Institute (Cambridge)) ;
Lindblad-Toh, Kerstin (Uppsala University. Department of Medical Biochemistry & Microbiology) ;
Wei, Xiaofeng (China National GeneBank) ;
Archibald, John M. (Dalhousie University. Department of Biochemistry & Molecular Biology) ;
Baker, William J.. (Royal Botanic Gardens. Department of Accelerated Taxonomy) ;
Belov, Katherine (University of Sydney. School of Life and Environmental Sciences) ;
Blaxter, Mark (Wellcome Sanger Institute (Cambridge)) ;
Marques-Bonet, Tomas 1975- (Institut Català de Paleontologia Miquel Crusafont) ;
Childers, Anna K. (US Department of Agriculture. Beltsville Agricultural Research Center) ;
Coddington, Jonathan A. (Smithsonian Institution. National Museum of Natural History) ;
Crandall, Keith A. (George Washington University. Department of Biostatistics & Bioinformatics) ;
Crawford, Andrew J. (Universidad de los Andes. Department of Biological Sciences (Colombia)) ;
Davey, Robert P. (Norwich Research Park. Earlham Institute (UK)) ;
Di Palma, Federica (Genome British Columbia (Vancouver)) ;
Fang, Qi (BGI-Shenzhen (China)) ;
Haerty, Wilfried (Norwich Research Park. Earlham Institute (UK)) ;
Hall, Neil (Norwich Research Park. Earlham Institute (UK)) ;
Hoff, Katharina (University of Greifswald. Center for Functional Genomics of Microbes) ;
Howe, Kerstin (Wellcome Sanger Institute (Cambridge)) ;
Jarvis, Erich (The Rockefeller University. Vertebrate Genomes Laboratory (USA)) ;
Johnson, Warren E. (Smithsonian Conservation Biology Institute) ;
Johnson, Rebecca (Smithsonian Institution. National Museum of Natural History) ;
Kersey, Paul J. (European Bioinformatics Institute. European Molecular Biology Laboratory (UK)) ;
Liu, Xin (China National GeneBank) ;
Lopez, Jose V. (Nova Southeastern University. Guy Harvey Oceanographic Center) ;
Myers, Eugene W. (Max Planck Institute of Molecular Cell Biology and Genetics (Germany)) ;
Vinnere Pettersson, Olga (Uppsala University. Science for Life Laboratory) ;
Phillippy, Adam M. (National Institutes of Health. National Human Genome Research Institute (USA)) ;
Poelchau, Monica (United States. Department of Agriculture. Agricultural Research Service) ;
Pruitt, Kim D. (National Library of Medicine. National Center for Biotechnology Information (USA)) ;
Rhie, Arang (National Institutes of Health. National Human Genome Research Institute (USA)) ;
Castilla-Rubio, Juan Carlos (Spacetime Ventures (Brazil)) ;
Sahu, Sunil Kumar (China National GeneBank) ;
Salmon, Nicholas A. (Wellcome Sanger Institute (Cambridge)) ;
Soltis, Pamela (University of Florida. Florida Museum of Natural History) ;
Swarbreck, David (Norwich Research Park. Earlham Institute (UK)) ;
Thibaud-Nissen, Françoise (National Library of Medicine. National Center for Biotechnology Information (USA)) ;
Wang, Sibo (China National GeneBank) ;
Wegrzyn, Jill (University of Connecticut. Department of Ecology and Evolutionary Biology) ;
Zhang, Guojie (China National GeneBank) ;
Zhang, He (BGI-Shenzhen (China)) ;
Lewin, Harris A. (University of California Davis. Department of Evolution and Ecology (USA)) ;
Richards, Stephen (University of California Davis. Genome Center)
A global international initiative, such as the Earth BioGenome Project (EBP), requires both agreement and coordination on standards to ensure that the collective effort generates rapid progress toward its goals. [...]
2022 - 10.1073/pnas.2115639118
Proceedings of the National Academy of Sciences of the United States of America, Vol. 119, Num. 4 (January 2022) , art. e2115639118
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7 p, 1.4 MB |
The Earth BioGenome Project 2020: Starting the clock
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Lewin, Harris A. (University of California Davis. Department of Evolution and Ecology (USA)) ;
Richards, Stephen (University of California Davis. Genome Center) ;
Aiden, Erez (Baylor College of Medicine) ;
Allende, Miguel L. (Universidad de Chile. Center for Genome Regulation) ;
Archibald, John M. (Dalhousie University. Department of Biochemistry & Molecular Biology) ;
Bálint, Miklós M. (Senckenberg Leibniz Institution for Biodiversity and Earth System Research. LOEWE Centre of Translational Biodiversity Genomics) ;
Barker, Katharine M. (Smithsonian Institution. National Museum of Natural History) ;
Baumgartnerk, Bridget (Revive & Restore (USA)) ;
Belov, Katherine (University of Sydney. School of Life and Environmental Sciences) ;
Bertorelle, Giorgio (University of Ferrara. Department of Life Sciences and Biotechnology) ;
Blaxter, Mark (Wellcome Sanger Institute (Cambridge)) ;
Cai, Jing (Northwestern Polytechnical University. School of Ecology and Environment (China)) ;
Caperello, Nicolette (University of California Davis. Genome Center) ;
Carlson, Keith (University of California Santa Barbara) ;
Castilla-Rubio, Juan Carlos (Spacetime Ventures (Brazil)) ;
Chaw, Shu-Miaw (Academia Sinica. Biodiversity Research Center (Taiwan)) ;
Chen, Lei (Northwestern Polytechnical University. School of Ecology and Environment (China)) ;
Childers, Anna K. (US Department of Agriculture. Beltsville Agricultural Research Center) ;
Coddington, Jonathan A. (Smithsonian Institution. National Museum of Natural History) ;
Conde, Dalia A. (University of Southern Denmark. Department of Biology) ;
Corominas, Montserrat (Universitat de Barcelona. Departament de Genètica, Microbiologia i Estadística) ;
Crandall, Keith A. (George Washington University. Department of Biostatistics & Bioinformatics) ;
Crawford, Andrew J. (Universidad de los Andes. Department of Biological Sciences (Colombia)) ;
Di Palma, Federica (Genome British Columbia (Vancouver)) ;
Durbin, Richard (University of Cambridge. Department of Genetics) ;
Ebenezer, ThankGod E. (Wellcome Genome Campus. European Bioinformatics Institute) ;
Edwards, Scott (Harvard University. Department of Organismic and Evolutionary Biology) ;
Fedrigo, Olivier (The Rockefeller University. Laboratory of the Neurogenetics of Language (USA)) ;
Flicek, Paul (Wellcome Trust Sanger Institute (Regne Unit)) ;
Formenti, Giulio (The Rockefeller University. Vertebrate Genome Lab (USA)) ;
Gibbs, Richard A. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Gilbert, M. Thomas P. (University of Copenhagen. The GLOBE Institute) ;
Goldstein, Melissa M. (George Washington University. Department of Health Policy and Management) ;
Marshall Graves, Jennifer A. (University of Canberra. Institute for Applied Ecology) ;
Greely, Henry (Stanford University. Stanford Law School) ;
Grigoriev, Igor (United States. Department of Energy. Joint Genome Institute) ;
Hackett, Kevin J. (United States. Department of Agriculture. Agricultural Research Service) ;
Hall, Neil (Norwich Research Park. Earlham Institute (UK)) ;
Haussler, David (University of California Santa Cruz. Genome Institute (USA)) ;
Helgen, Kristofer M. (Australian Museum Research Institute) ;
Hogg, Carolyn J. (University of Sydney. School of Life and Environmental Sciences) ;
Isobe, Sachiko (Kazusa DNA Research Institute. Department of Frontier Research and Development) ;
Jakobsen, Kjetill Sigurd (University of Oslo. Department of Biosciences) ;
Janke, Axel (Senckenberg Leibniz Institution for Biodiversity and Earth System Research. LOEWE Centre of Translational Biodiversity Genomics) ;
Jarvis, Erich (The Rockefeller University. Laboratory of the Neurogenetics of Language (USA)) ;
Johnson, Warren E. (Smithsonian Conservation Biology Institute) ;
Jones, Steven J. M. (Canada's Michael Smith Genome Sciences Centre) ;
Karlsson, Elinor K. (University of Massachusetts Medical School. Bioinformatics and Integrative Biology) ;
Kersey, Paul J. (Royal Botanic Gardens Kew) ;
Kim, Jin-Hyoung (Korea Polar Research Institute. Division of Life Sciences) ;
Kress, W. John (Smithsonian Institution. National Museum of Natural History) ;
Kuraku, Shigehiro (National Institute of Genetics. Department of Genomics and Evolutionary Biology) ;
Lawniczak, Mara K. N. (Wellcome Sanger Institute (Cambridge)) ;
Leebens-Mack, James H. (University of Georgia. Department of Plant Biology) ;
Li, Xueyan (Chinese Academy of Sciences. Kunming Institute of Zoology) ;
Lindblad-Toh, Kerstin (Uppsala University. Department of Medical Biochemistry & Microbiology) ;
Liu, Xin (Beijing Genomics Institute-Shenzhen) ;
Lopez, Jose V. (Nova Southeastern University. Department of Biological Sciences) ;
Marques-Bonet, Tomas 1975- (Institut Català de Paleontologia Miquel Crusafont) ;
Mazard, Sofhie (Macquarie University. Bioplatforms Australia) ;
Mazet, Jonna (University of California Davis. One Health Institute) ;
Mazzoni, Camila J. (Berlin Center for Genomics in Biodiversity Research) ;
Myers, Eugene W. (Max Planck Institute of Molecular Cell Biology and Genetics (Germany)) ;
O'Neill, Rachel J. (University of Connecticut. Institute for Systems Genomics) ;
Paez, Sadye (The Rockefeller University. Laboratory of the Neurogenetics of Language (USA)) ;
Park, Hyun (Korea University. Division of Biotechnology) ;
Robinson, Gene (University of Illinois at Urbana−Champaign. Department of Entomology) ;
Roquet, Cristina (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Ryder, Oliver A (University of California San Diego. Department of Evolution, Behavior, and Ecology (USA)) ;
Sabir, Jamal S. M. (King Abdulaziz University. Department of Biological Sciences (Saudi Arabia)) ;
Shaffer, Howard Bradley (University of California, Los Angeles. Department of Ecology and Evolutionary Biology) ;
Shank, Timothy M. (Woods Hole Oceanographic Institution) ;
Sherkow, Jacob S. (University of Illinois at Urbana−Champaign. Department of Entomology) ;
Soltis, Pamela (University of Florida. Florida Museum of Natural History) ;
Tang, Boping (Yancheng Teachers University. School of Wetlands (China)) ;
Tedersoo, Leho (University of Tartu. Center of Mycology and Microbiology) ;
Uliano da Silva, Marcela (Wellcome Sanger Institute (Cambridge)) ;
Wang, Kun (Northwestern Polytechnical University. School of Ecology and Environment (China)) ;
Wei, Xiaofeng (Beijing Genomics Institute-Shenzhen) ;
Wetzer, Regina (University of Southern California, Los Angeles. Biological Sciences) ;
Wilson, Julia L. (Wellcome Sanger Institute (Cambridge)) ;
Xu, Xun (Beijing Genomics Institute-Shenzhen) ;
Yang, Huanming (Beijing Genomics Institute-Shenzhen) ;
Yoder, Anne (Duke University, Durham. Department of Biology) ;
Zhang, Guojie (Beijing Genomics Institute-Shenzhen)
2022 - 10.1073/pnas.2115635118
Proceedings of the National Academy of Sciences of the United States of America, Vol. 119, Num. 4 (2022) , art. e2115635118
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4 p, 163.0 KB |
McArdle disease does not affect skeletal muscle fibre type profiles in humans
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Kohn, Tertius Abraham (UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town) ;
Noakes, Timothy David (UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town) ;
Rae, Dale Elizabeth (UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town) ;
Rubio, Juan Carlos (Hospital Universitario 12 de Octubre (Madrid)) ;
Santalla, Alfredo (Universidad Pablo de Olavide. Departamento de Deporte e Informática) ;
Nogales, Gisela (Institut d'Investigació Biomèdica Sant Pau) ;
Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martín, Miguel A. (Hospital Universitario 12 de Octubre (Madrid)) ;
Arenas, Joaquín (Hospital Universitario 12 de Octubre (Madrid)) ;
Lucia, Alejandro (European University of Madrid) ;
Universitat Autònoma de Barcelona
Patients suffering from glycogen storage disease V (McArdle disease) were shown to have higher surface electrical activity in their skeletal muscles when exercising at the same intensity as their healthy counterparts, indicating more muscle fibre recruitment. [...]
2014 - 10.1242/bio.20149548
Biology open, Vol. 3 (november 2014) , p. 1224-1227
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