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المؤلفون: Pietro Fratta, Nicol Birsa, Martha McLaughlin, Alessandro Rosa, Adrian M. Isaacs, Oliver Mühlemann, Agnieszka M. Ule, Jack Humphrey, Marc-David Ruepp, Elizabeth M. C. Fisher, Irene Bozzoni, Matthew Bentham, Cristian Bodo, Vincent Plagnol, Gianni Sorarù, Anna-Leigh Brown, Maria Giovanna Garone, Andrea B. Eberle, David Robaldo, Anny Devoy, Rahel Kräuchi, Carmelo Milioto, Seth Jarvis, Giampietro Schiavo
المصدر: Nucleic Acids Research
Humphrey, Jack; Birsa, Nicol; Milioto, Carmelo; McLaughlin, Martha; Ule, Agnieszka M.; Robaldo, David; Eberle, Andrea B.; Kräuchi, Rahel; Bentham, Matthew; Brown, Anna-Leigh; Jarvis, Seth; Bodo, Cristian; Garone, Maria G.; Devoy, Anny; Soraru, Gianni; Rosa, Alessandro; Bozzoni, Irene; Fisher, Elizabeth M. C.; Mühlemann, Oliver; Schiavo, Giampietro; ... (2020). FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention. Nucleic acids research, 48(12), pp. 6889-6905. Oxford University Press 10.1093/nar/gkaa410 <http://dx.doi.org/10.1093/nar/gkaa410>مصطلحات موضوعية: Cytoplasm, AcademicSubjects/SCI00010, RNA Splicing, SOD1, Mutant, Biology, medicine.disease_cause, 03 medical and health sciences, Splicing factor, Mice, 0302 clinical medicine, Superoxide Dismutase-1, Loss of Function Mutation, Valosin Containing Protein, 540 Chemistry, Genetics, medicine, RNA and RNA-protein complexes, Animals, Homeostasis, Humans, Gene, Loss function, 030304 developmental biology, Mice, Knockout, 0303 health sciences, Mutation, Amyotrophic Lateral Sclerosis, Intron, amytrophic lateral sclerosis, Brillouin, FUS, motor neuron, RNA-binding protein, RNA, splicing, Introns, Cell biology, DNA-Binding Proteins, Disease Models, Animal, Gene Expression Regulation, RNA splicing, 570 Life sciences, biology, RNA-Binding Protein FUS, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28a1ed9e678832a0b3468587c4dba2e2
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المؤلفون: Irene Bozzoni, Cristian Bodo, Pietro Fratta, Maria Giovanna Garone, David Robaldo, Elizabeth M. C. Fisher, Seth Jarvis, Nicol Birsa, Jack Humphrey, Adrian M. Isaacs, Giampietro Schiavo, Carmelo Milioto, Marc-David Ruepp, Alessandro Rosa, Vincent Plagnol, Matthew Bentham, Anny Devoy
مصطلحات موضوعية: 0303 health sciences, Intron, RNA, RNA-binding protein, Biology, medicine.disease, 3. Good health, Cell biology, 03 medical and health sciences, 0302 clinical medicine, RNA splicing, medicine, Amyotrophic lateral sclerosis, Gene, 030217 neurology & neurosurgery, Loss function, 030304 developmental biology, RNA-Binding Protein FUS
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7faeff7214fb1af9e685f5c30fc9669f