Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Lars Edström"'
Autor:
Montse Olivé, Martin Engvall, Gianina Ravenscroft, Macarena Cabrera-Serrano, Hong Jiao, Carlo Augusto Bortolotti, Marcello Pignataro, Matteo Lambrughi, Haibo Jiang, Alistair R. R. Forrest, Núria Benseny-Cases, Stefan Hofbauer, Christian Obinger, Gianantonio Battistuzzi, Marzia Bellei, Marco Borsari, Giulia Di Rocco, Helena M. Viola, Livia C. Hool, Josep Cladera, Kristina Lagerstedt-Robinson, Fengqing Xiang, Anna Wredenberg, Francesc Miralles, Juan José Baiges, Edoardo Malfatti, Norma B. Romero, Nathalie Streichenberger, Christophe Vial, Kristl G. Claeys, Chiara S. M. Straathof, An Goris, Christoph Freyer, Martin Lammens, Guillaume Bassez, Juha Kere, Paula Clemente, Thomas Sejersen, Bjarne Udd, Noemí Vidal, Isidre Ferrer, Lars Edström, Anna Wedell, Nigel G. Laing
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Myoglobin is a hemeprotein that reversibly binds oxygen and gives muscle its red color. Here, the authors report a genetic variant in the MB gene that associates with myoglobinopathy, an autosomal dominant progressive myopathy, and altered oxygen bin
Externí odkaz:
https://doaj.org/article/66b676bb69fb44be94c22654e712d730
Autor:
Norma B. Romero, Nathalie Streichenberger, Kristina Lagerstedt-Robinson, Anna Wredenberg, Gianina Ravenscroft, Gianantonio Battistuzzi, Martin Lammens, Chiara S. M. Straathof, Martin Engvall, Christophe Vial, Haibo Jiang, Marzia Bellei, Marco Borsari, Fengqing Xiang, Juha Kere, Giulia Di Rocco, Helena M. Viola, Núria Benseny-Cases, Edoardo Malfatti, Nigel G. Laing, Bjarne Udd, Juan José Baiges, Lars Edström, Thomas Sejersen, Carlo Augusto Bortolotti, Marcello Pignataro, Noemi Vidal, Paula Clemente, Anna Wedell, Alistair R. R. Forrest, Stefan Hofbauer, Kristl G. Claeys, An Goris, Macarena Cabrera-Serrano, Matteo Lambrughi, Francesc Miralles, Montse Olivé, Christian Obinger, Isidre Ferrer, Livia C. Hool, Christoph Freyer, Guillaume Bassez, Hong Jiao, Josep Cladera
Publikováno v:
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Digital.CSIC. Repositorio Institucional del CSIC
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10, pp.1396. ⟨10.1038/s41467-019-09111-2⟩
Nature communications
Nature Communications, 2019, 10, pp.1396. ⟨10.1038/s41467-019-09111-2⟩
Nature Communications, 10
Universitat Autònoma de Barcelona
Digital.CSIC. Repositorio Institucional del CSIC
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10, pp.1396. ⟨10.1038/s41467-019-09111-2⟩
Nature communications
Nature Communications, 2019, 10, pp.1396. ⟨10.1038/s41467-019-09111-2⟩
Nature Communications, 10
Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O-2, facilitates its intracellular transport and serves as a controller of nitric oxide and r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c74251213720f9eb4140e00970a3dea
https://ddd.uab.cat/record/222847
https://ddd.uab.cat/record/222847
Autor:
Per Harald Jonson, Lars Edström, Mark Screen, Juha Kere, Sara Lehtinen, H. Luque, Peter Hackman, Anni Evilä, Patrick F. Chinnery, Anna Vihola, Jaakko Sarparanta, Bjarne Udd, Gabrielle Åhlberg
Publikováno v:
Annals of Neurology. 73:500-509
Objective A study was undertaken to identify the molecular cause of Welander distal myopathy (WDM), a classic autosomal dominant distal myopathy. Methods The genetic linkage was confirmed and defined by microsatellite and single nucleotide polymorphi
Publikováno v:
Muscle & Nerve. 46:785-792
Introduction: Upper motor neuron lesions after stroke are a major cause of disability. We aimed to determine whether skeletal muscles from these patients display typical molecular signatures of inflammation, growth arrest, and atrophy. Methods: Muscl
Autor:
Gunnar Sjöberg, A Gudkova, Irina Kuznetsova, Marinan Turalchuk, Natalia Smolina, Anna Kostareva, Eugene Shlyakhto, Lars Edström, Rybakova Mg, Thomas Sejersen
Publikováno v:
Pediatric Cardiology. 34:467-470
Desmin cardiomyopathy is a rare cause of congestive heart failure. Its clinical manifestation in adulthood often is associated with conduction disorders and a neuromuscular phenotype. Only a few cases have been reported, with early manifestation in c
Autor:
Olayinka Raheem, Anna Vihola, Anders Paetau, Jeanette Holmlund-Hampf, Shodimu-Emmanuel Olufemi, Giovanni Meola, Ralf Krahe, Lars Edström, Shohrae Hajibashi, Hannu Haapasalo, Bjarne Udd, Tiina Suominen, Keith A. Baggerly, Linda L. Bachinski, Rosanna Cardani, Hannu Kalimo, Mario Sirito
Publikováno v:
Acta Neuropathologica. 119:465-479
Aberrant transcription and mRNA processing of multiple genes due to RNA-mediated toxic gain-of-function has been suggested to cause the complex phenotype in myotonic dystrophies type 1 and 2 (DM1 and DM2). However, the molecular basis of muscle weakn
Autor:
Birgitta Hedberg, Shi-Jin Zhang, Johanna Balogh, Håkan Westerblad, Anna Kostareva, Thomas Sejersen, Joseph D. Bruton, A Gudkova, Gunnar Sjöberg, Lars Edström
Publikováno v:
Journal of Muscle Research and Cell Motility. 29:25-36
Desmin mutations underlie inherited myopathies/cardiomyopathies with varying severity and involvement of the skeletal and cardiac muscles. We developed a transgenic mouse model expressing low level of the L345P desmin mutation (DESMUT mice) in order
Publikováno v:
Acta Neurologica Scandinavica. 112:223-227
Objectives – To characterise a Swedish family with a rare hereditary myopathy with unique sarcoplasmic inclusion bodies in the muscle biopsy. Materials and methods – Part of the pedigree was described in 1980. Nine new members of the included and
Autor:
Jakob Kristensen, Fengqing Xiang, Anna Vihola, Thomas Sejersen, Mathias Gautel, Sylvie Marchand, Gereon Franzen, Elisabeth Ehler, Lars Edström, Elena Rostkova, Birgit Brandmeier, Bjarne Udd, Stephan Lange, Isabelle Richard, Lars-Gunnar Gunnarsson, Birgitta Hedberg, Peter Hackman, Andrey Yakovenko, Simon M. Hughes
Publikováno v:
Science. 308:1599-1603
The giant sarcomeric protein titin contains a protein kinase domain (TK) ideally positioned to sense mechanical load. We identified a signaling complex where TK interacts with the zinc-finger protein nbr1 through a mechanically inducible conformation
Publikováno v:
Intensive Care Medicine. 29:1515-1527
To develop a rapid method to quantify myosin in muscle biopsy specimens from patients with critical illness myopathy (CIM).Percutaneous muscle biopsy specimens at different stages of CIM were examined by light microscopy and transmission electron mic