Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Muscarnera, G."'
Autor:
Da Silva, Afitz, Dort, J., Orfi, Z., Pan, X., Huang, S.J., Kho, I., Heckel, E., Muscarnera, G., Vliet, P.P. van, Sturiale, L., Messina, A., Romeo, D.A., Karnebeek, C.D.M. van, Wen, X.Y., Hinek, A., Molina, T., Andelfinger, G., Ellezam, B., Yamanaka, Y., Olivos, H.J., Morales, C.R., Joyal, J.S., Lefeber, D.J., Garozzo, D., Dumont, N.A., Pshezhetsky, A.V.
Publikováno v:
Science Advances, 9, 26
Contains fulltext : 294352.pdf (Publisher’s version ) (Open Access) Deleterious variants in N-acetylneuraminate pyruvate lyase (NPL) cause skeletal myopathy and cardiac edema in humans and zebrafish, but its physiological role remains unknown. We r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1236::1263ed39e305b6819b88909796cf725e
https://repository.ubn.ru.nl/handle/2066/294352
https://repository.ubn.ru.nl/handle/2066/294352
Autor:
Da Silva A; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada., Dort J; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada., Orfi Z; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada., Pan X; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada., Huang S; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen 6500, Netherlands., Kho I; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.; Department of Anatomy and Cell Biology, McGill University, Montreal, QC, Canada., Heckel E; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada., Muscarnera G; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada., van Vliet PP; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada., Sturiale L; CNR, Institute of Polymers, Composites and Biomaterials, Catania, Italy., Messina A; CNR, Institute of Polymers, Composites and Biomaterials, Catania, Italy., Romeo DA; CNR, Institute of Polymers, Composites and Biomaterials, Catania, Italy., van Karnebeek CDM; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands., Wen XY; Zebrafish Centre for Advanced Drug Discovery and ZebraPeutics (Guangdong) Ltd., HengQin District, Zhuhai, China., Hinek A; Hospital for Sick Children Research Institute, Toronto, ON, Canada., Molina T; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada., Andelfinger G; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada., Ellezam B; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada., Yamanaka Y; Goodman Cancer Research Centre, McGill University, Montreal, QC, Canada., Olivos HJ; Waters Corporation, Milford, MA, USA., Morales CR; Department of Anatomy and Cell Biology, McGill University, Montreal, QC, Canada., Joyal JS; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada., Lefeber DJ; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen 6500, Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboudumc Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6500, Netherlands., Garozzo D; CNR, Institute of Polymers, Composites and Biomaterials, Catania, Italy., Dumont NA; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.; School of Rehabilitation, University of Montreal, Montreal, QC, Canada., Pshezhetsky AV; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.; Department of Anatomy and Cell Biology, McGill University, Montreal, QC, Canada.
Publikováno v:
Science advances [Sci Adv] 2023 Jun 30; Vol. 9 (26), pp. eade6308. Date of Electronic Publication: 2023 Jun 30.
Autor:
Chambers TL; Exercise Science Research Center, Molecular Muscle Mass Regulation Laboratory, Department of Health, Human Performance, and Recreation, University of Arkansas, Fayetteville, AR, USA., Dimet-Wiley A; Ridgeline Therapeutics, Houston, TX, USA., Keeble AR; University of Kentucky Center for Muscle Biology, Lexington, KY, USA.; Department of Athletic Training and Clinical Nutrition, University of Kentucky, Lexington, KY, USA., Haghani A; Department of Human Genetics, University of California Los Angeles, Los Angeles, CA, USA.; Altos Labs, San Diego, CA, USA., Lo WJ; Department of Educational Statistics and Research Methods, University of Arkansas, Fayetteville, AR, USA., Kang G; University of Kentucky Center for Muscle Biology, Lexington, KY, USA.; Department of Physiology, University of Kentucky, Lexington, KY, USA.; Division of Biomedical Informatics, Department of Internal Medicine, University of Kentucky, Lexington, KY, USA., Brooke R; Epigenetic Clock Development Foundation, Los Angeles, CA, USA., Horvath S; Department of Human Genetics, University of California Los Angeles, Los Angeles, CA, USA.; Altos Labs, San Diego, CA, USA.; Epigenetic Clock Development Foundation, Los Angeles, CA, USA., Fry CS; University of Kentucky Center for Muscle Biology, Lexington, KY, USA.; Department of Athletic Training and Clinical Nutrition, University of Kentucky, Lexington, KY, USA., Watowich SJ; Ridgeline Therapeutics, Houston, TX, USA.; Department of Biochemistry and Molecular Biology, University of Texas Medical Branch, Galveston, TX, USA., Wen Y; University of Kentucky Center for Muscle Biology, Lexington, KY, USA.; Department of Physiology, University of Kentucky, Lexington, KY, USA.; Division of Biomedical Informatics, Department of Internal Medicine, University of Kentucky, Lexington, KY, USA., Murach KA; Exercise Science Research Center, Molecular Muscle Mass Regulation Laboratory, Department of Health, Human Performance, and Recreation, University of Arkansas, Fayetteville, AR, USA.
Publikováno v:
The Journal of physiology [J Physiol] 2024 Jul 26. Date of Electronic Publication: 2024 Jul 26.