Resultados globales: 2 registros encontrados en 0.01 segundos.
Artículos, Encontrados 2 registros
Artículos Encontrados 2 registros  
1.
14 p, 2.6 MB Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions / Olivé, Montserrat (IDIBELL-Hospital de Bellvitge) ; Engvall, Martin (Karolinska University Hospital) ; Ravenscroft, Gianina (University of Western Australia. Harry Perkins Institute of Medical Research) ; Cabrera Serrano, Macarena (Hospital Universitario Virgen del Rocío) ; Jiao, H. (Karolinska University Hospital) ; Bortolotti, Carlo Augusto (University of Modena and Reggio Emilia) ; Pignataro, Marcello (University of Modena and Reggio Emilia) ; Lambrughi, M. (University of Modena and Reggio Emilia) ; Jiang, H. (The University of Western Australia) ; Forrest, A.R.R. (University of Western Australia. Harry Perkins Institute of Medical Research) ; Benseny Cases, Núria (ALBA Laboratori de Llum de Sincrotró) ; Hofbauer, Stefan (BOKU-University of Natural Resources and Life Sciences) ; Obinger, Christian (BOKU-University of Natural Resources and Life Sciences) ; Battistuzzi, G. (University of Modena and Reggio Emilia) ; Bellei, M. (University of Modena and Reggio Emilia) ; Borsari, Marco (University of Modena and Reggio Emilia) ; Di Rocco, G. (University of Modena and Reggio Emilia) ; Viola, H.M. (The University of Western Australia) ; Hool, L.C. (Victor Chang Cardiac Research Institute) ; Cladera i Cerdà, Josep (Universitat Autònoma de Barcelona. Departament de Bioquímica i Biologia Molecular) ; Lagerstedt-Robinson, K. (Karolinska University Hospital. Solna) ; Xiang, F. (Karolinska Institutet) ; Wredenberg, A. (Karolinska Institutet) ; Miralles, Francesc (Hospital Son Espases) ; Baiges, J.J. (Hospital Verge de la Cinta) ; Malfatti, E. (Centre de Référence de Pathologie Neuromusculaire Paris-Est) ; Romero, N.B. (Centre de Référence de Pathologie Neuromusculaire Paris-Est) ; Streichenberger, N. (Université Claude Bernard Lyon) ; Vial, C. (Electromyographie-Groupement Hospitalier Est) ; Claeys, K.G. (KU Leuven-University of Leuven) ; Straathof, C.S.M. (Leiden University Medical Center) ; Goris, A. (KU Leuven-University of Leuven) ; Freyer, C. (Karolinska Institutet) ; Lammens, M. (Radboud University Medical Center) ; Bassez, G. (East-Paris University (UPEC)) ; Kere, J. (King's College London) ; Clemente, P. (Karolinska Institutet) ; Sejersen, Thomas (Karolinska Institutet) ; Udd, B. (Tampere University Hospital) ; Vidal, Noemí (IDIBELL-Hospital de Bellvitge) ; Ferrer, Isidre (Universitat de Barcelona) ; Edström, L. (Karolinska Institutet) ; Wedell, A. (Karolinska University Hospital) ; Laing, N.G. (University of Western Australia. Harry Perkins Institute of Medical Research)
Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species. [...]
2019 - 10.1038/s41467-019-09111-2
Nature communications, Vol. 10 (March 2019) , art. 1396  
2.
21 p, 4.8 MB A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss / Servián Morilla, Emilia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED)) ; Takeuchi, Hideyuki (The University of Georgia) ; Lee, Tom V. (Baylor College of Medicine) ; Clarimon, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Mavillard, Fabiola (Universidad de Sevilla) ; Area Gómez, Estela (Columbia University Medical Center) ; Rivas, Eloy (Universidad de Sevilla) ; Nieto González, José L. (Universidad de Sevilla) ; Rivero, María C. (Universidad de Sevilla) ; Cabrera Serrano, Macarena (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED)) ; Gómez Sánchez, Leonardo (Universidad de Sevilla) ; Martínez López, José A. (Universidad de Sevilla) ; Estrada, Beatriz (Universidad Pablo Olavide) ; Márquez, Celedonio (Universidad de Sevilla) ; Morgado, Yolanda (Hospital U. Valme) ; Suárez Calvet, Xavier (Centro de Investigación Biomédica en Red sobre Enfermedades Raras (CIBERER)) ; Pita, Guillermo (Centro Nacional de Investigaciones Oncológicas) ; Bigot, Anne (Sorbonne Universités) ; Gallardo Vigo, Eduard (Centro de Investigación Biomédica en Red sobre Enfermedades Raras (CIBERER)) ; Fernández Chacón, Rafael (Universidad de Sevilla) ; Hirano, Michio (Columbia University Medical Center) ; Haltiwanger, Robert S. (The University of Georgia) ; Jafar-Nejad, Hamed (Baylor College of Medicine) ; Paradas, Carmen (Columbia University Medical Center) ; Universitat Autònoma de Barcelona
Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limb-girdle muscular dystrophy, we identified a missense mutation in 1 (protein O -glucosyltransferase 1), an enzyme involved in Notch posttranslational modification and function. [...]
2016 - 10.15252/emmm.201505815
EMBO Molecular Medicine, Vol. 8, Issue 11 (November 2016) , p. 1289-1309  

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