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المؤلفون: Rubika Balendra, Igor Ruiz de los Mozos, Idoia Glaria, Carmelo Milioto, Hana M Odeh, Katherine M Wilson, Agnieszka M Ule, Martina Hallegger, Laura Masino, Stephen Martin, Rickie Patani, James Shorter, Jernej Ule, Adrian M Isaacs
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7884474e238fa34edd2e211aa5ecae20
https://doi.org/10.1101/2022.10.10.511318 -
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المؤلفون: Oscar G. Wilkins, Pietro Fratta, Seth Jarvis, Brian Tsang, Elizabeth M. C. Fisher, Cristian Bodo, Giampietro Schiavo, Maria Giovanna Garone, Anny Devoy, Gabriella Viero, Julie D. Forman-Kay, Micheal L. Nosella, P. Andrew Chong, Melis Pisiren, Agnieszka M. Ule, Nicol Birsa, Francesca Mattedi, Alessandro Rosa, Jack Humphrey, Rafaela Fernandez de la Fuente
المصدر: Science Advances
Science Advances 7 (2021). doi:10.1126/sciadv.abf8660
info:cnr-pdr/source/autori:Birsa N.; Ule A.M.; Garone M.G.; Tsang B.; Mattedi F.; Andrew Chong P.; Humphrey J.; Jarvis S.; Pisiren M.; Wilkins O.G.; Nosella M.L.; Devoy A.; Bodo C.; De la Fuente R.F.; Fisher E.M.C.; Rosa A.; Viero G.; Forman-Kay J.D.; Schiavo G.; Fratta P./titolo:FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation/doi:10.1126%2Fsciadv.abf8660/rivista:Science Advances/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:7مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, RNA-binding protein, Mutant, Phase separation, Neurodegenerative diseases, Amyotrophic lateral sclerosis, Fragile X Mental Retardation Protein, Mice, 03 medical and health sciences, 0302 clinical medicine, medicine, Animals, Brain, Cell proliferation, Neurons, Proteins, Psychological repression, Research Articles, Multidisciplinary, Chemistry, Neurodegeneration, SciAdv r-articles, Translation (biology), medicine.disease, In vitro, nervous system diseases, Cell biology, 030104 developmental biology, Cytoplasm, Protein Biosynthesis, Cellular Neuroscience, Mutation, RNA-Binding Protein FUS, 030217 neurology & neurosurgery, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cd61e34899281346ba403d1e869dc80
https://doi.org/10.1126/sciadv.abf8660 -
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المؤلفون: Michael L Nosella, M. Pisiren, R. Fernandez de la Fuente, Brian Tsang, Gabriella Viero, Cristian Bodo, Pietro Fratta, Maria Giovanna Garone, Giampietro Schiavo, Alessandro Rosa, Francesca Mattedi, Oscar G. Wilkins, Elizabeth M. C. Fisher, Agnieszka M. Ule, Jack Humphrey, Seth Jarvis, Julie D. Forman-Kay, P.A. Chong, Nicol Birsa, Anny Devoy
مصطلحات موضوعية: Cytoplasm, Chemistry, Mutant, Translational regulation, Neurodegeneration, medicine, RNA, RNA-binding protein, Translation (biology), medicine.disease, Ribosome, Cell biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9eb4c516e21f08cc3c507384d236bb23
https://doi.org/10.1101/2020.09.14.296038 -
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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: Thomas J. Cunningham, Jack Humphrey, Prasanth Sivakumar, Francesca De Giorgio, Nicol Birsa, Pietro Fratta, Agnieszka M. Ule, Abraham Acevedo-Arozena, Elizabeth M. C. Fisher, Vincent Plagnol, Matthew Bentham, Remya R. Nair, Jacob Neeves
المصدر: Brain : a journal of neurology. 141(12)
مصطلحات موضوعية: 0301 basic medicine, Heterogeneous Nuclear Ribonucleoprotein A1, RNA Splicing, Amyotrophic Lateral Sclerosis, Biology, Cell biology, DNA-Binding Proteins, 03 medical and health sciences, Alternative Splicing, 030104 developmental biology, 0302 clinical medicine, RNA splicing, Heterogeneous-Nuclear Ribonucleoprotein Group A-B, Mutation, Humans, Neurology (clinical), Letters to the Editor, 030217 neurology & neurosurgery, Function (biology)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::308f04cf8027a8ae6a6ec019be1e5cc2
https://pubmed.ncbi.nlm.nih.gov/30364932 -
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المؤلفون: David E. Housman, Prasanth Sivakumar, Martina Hallegger, Cristian Bodo, Bernadett Kalmar, Warren Emmett, Hugo Alexandre Mendes Oliveira, Philip Stanier, Adrian M. Isaacs, Alexander E. Conicella, Linda Greensmith, Lydia Teboul, Pietro Fratta, Alessandro Marrero-Gagliardi, Vincent Plagnol, Nicolas L. Fawzi, José M. Brito-Armas, Nicol Birsa, Yichao Yu, Erwin Pauws, Emma Peskett, Joffrey Mianné, Agnieszka M. Ule, Gemma F. Codner, T. Ricketts, Andrea Calvo, Silvia Corrochano, Toby Collins, Jack Humphrey, M Groves, Mark F. Lythgoe, Emanuele Buratti, Francisco E. Baralle, Eric T. Wang, Adriano Chiò, Alan Mejia Maza, Michelle Stewart, Yoichi Gondo, Ryutaro Fukumura, Kitty Lo, Elizabeth M. C. Fisher, Abraham Acevedo-Arozena
المساهمون: Massachusetts Institute of Technology. Department of Biology, Wang, Eric T, Housman, David E
المصدر: The EMBO Journal
EMBRO Pressمصطلحات موضوعية: Genetics and Molecular Biology (all), 0301 basic medicine, TDP-43, Immunology and Microbiology (all), RNA-binding protein, medicine.disease_cause, Biochemistry, Mice, Exon, 0302 clinical medicine, Molecular Biology of Disease, News & Views, Motor Neurons, Mutation, General Neuroscience, RNA-Binding Proteins, ALS, cryptic exon, skiptic exon, splicing, Neuroscience (all), Molecular Biology, Biochemistry, Genetics and Molecular Biology (all), Articles, Exons, RNA Biology, Cell biology, DNA-Binding Proteins, RNA splicing, RNA Splicing, Biology, TARDBP, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, mental disorders, medicine, Animals, Humans, Loss function, General Immunology and Microbiology, Point mutation, Amyotrophic Lateral Sclerosis, Alternative splicing, nutritional and metabolic diseases, nervous system diseases, TDP‐43, Alternative Splicing, 030104 developmental biology, Gene Expression Regulation, 030217 neurology & neurosurgery, Neuroscience
وصف الملف: application/pdf
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المؤلفون: Prasanth Sivakumar, Pietro Fratta, Cristian Bodo, Linda Greensmith, Jack Humphrey, Agnieszka M. Ule, T. Ricketts, H. Oliveira, Vincent Plagnol, Abraham Acevedo-Arozena, David E. Housman, Eric T. Wang, Warren Emmett, Elizabeth M. C. Fisher, Francisco E. Baralle, Emanuele Buratti
المصدر: Neuromuscular Disorders. 27:S32
مصطلحات موضوعية: Genetics, Rna processing, Neurology, Pediatrics, Perinatology and Child Health, Mutant, Dysfunctional family, Neurology (clinical), Biology, Genetics (clinical)
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