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1دورية أكاديمية
المؤلفون: Chiara Scaramuzzino, John Monaghan, Carmelo Milioto, Nicholas A Lanson, Astha Maltare, Tanya Aggarwal, Ian Casci, Frank O Fackelmayer, Maria Pennuto, Udai Bhan Pandey
المصدر: PLoS ONE, Vol 8, Iss 4, p e61576 (2013)
وصف الملف: electronic resource
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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: 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
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المؤلفون: Emma L, Clayton, Carmelo, Milioto, Bhavana, Muralidharan, Frances E, Norona, James R, Edgar, Armand, Soriano, Paymaan, Jafar-Nejad, Frank, Rigo, John, Collinge, Adrian M, Isaacs
المصدر: Brain : a journal of neurology. 141(12)
مصطلحات موضوعية: Male, Neuronal Plasticity, Endosomal Sorting Complexes Required for Transport, Brain, Membrane Proteins, Mice, Transgenic, Nerve Tissue Proteins, Dendrites, Endosomes, Mice, Inbred C57BL, Frontotemporal Dementia, Gene Knockdown Techniques, Animals, Female, Lysosomes, Cells, Cultured
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::fcef4e429f7eadfb489c40df62fd2fe9
https://pubmed.ncbi.nlm.nih.gov/30496362 -
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المؤلفون: Pamela Gatto, Andrew P. Lieberman, Sibilla Molon, Sara Parodi, Diane M. Robins, Anna Urciuolo, Doriana Borgia, Vanina Romanello, Valeria Morbidoni, Carmelo Milioto, Bert Blaauw, Matteo Pellegrini, Maria Pennuto, Gianni Sorarù, Anna Rocchi, Paolo Bonaldo, Manuela Marabita, Marco Sandri, Andrea Armirotti, Fabio Sambataro, Lodovica Vergani
المصدر: Acta Neuropathologica
مصطلحات موضوعية: 0301 basic medicine, Male, Skeletal muscle, Spinal and bulbar muscular atrophy, Random Allocation, 0302 clinical medicine, Membrane Potential, Mitochondrial, biology, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, TOR Serine-Threonine Kinases, Medicine (all), Polyglutamine tract, Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha, Muscle atrophy, Muscular Disorders, Atrophic, 3. Good health, Androgen receptor, medicine.anatomical_structure, High-fat diet, Receptors, Androgen, Disease Progression, mTOR, Female, medicine.symptom, Glycolysis, Oxidation-Reduction, Signal Transduction, medicine.medical_specialty, Clinical Neurology, Mice, Transgenic, Diet, High-Fat, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Atrophy, Internal medicine, PGC1α, medicine, Animals, Humans, Rapamycin, Muscle, Skeletal, Mechanistic target of rapamycin, Original Paper, Lipid metabolism, medicine.disease, Lipid Metabolism, 2734, Neurology (clinical), Disease Models, Animal, 030104 developmental biology, Endocrinology, biology.protein, TFEB, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88e8bf4dad00c270d9cc089213414a34
http://hdl.handle.net/11577/3204883 -
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المؤلفون: Margherita Piccolella, Andrew P. Lieberman, Angelo Poletti, Valeria Crippa, Tanya Aggarwal, Riccardo Cristofani, Maria Pennuto, Maria Elena Cicardi, Carmelo Milioto, Elisa Giorgetti, Mariarita Galbiati, Elio Messi, Paola Rusmini, Marco Meroni, Anna Rocchi, Maria Josefa Polanco
المصدر: Scientific Reports
مصطلحات موضوعية: Protein Folding, Ubiquitin-Protein Ligases, HSP27 Heat-Shock Proteins, Biology, BAG3, MyoD, Article, Androgen, Mice, Downregulation and upregulation, Receptors, medicine, Autophagy, Myocyte, Animals, Humans, Gene Knock-In Techniques, Myogenin, Atrophic, Multidisciplinary, Animal, Ubiquitin, Polyglutamine tract, medicine.disease, Molecular biology, Muscular Disorders, Atrophic, Cell biology, Disease Models, Animal, Spinal and bulbar muscular atrophy, Gene Expression Regulation, Receptors, Androgen, Muscular Disorders, Disease Models
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b3b811e69dda508e9297346f3950939
http://hdl.handle.net/11572/154910 -
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المؤلفون: J. Paul Taylor, Frank O. Fackelmayer, Manuela Basso, Udai Bhan Pandey, Fabio Sambataro, Sara Parodi, Mathilde Chivet, Nisha M. Badders, Chiara Scaramuzzino, Carmelo Milioto, Christopher Grunseich, John Monaghan, María José Polanco, Maria Pennuto, Patricia M.-J. Lievens, Ashutosh Mishra, Ian Casci, Tanya Aggarwal
المصدر: Neuron
مصطلحات موضوعية: Protein-Arginine N-Methyltransferases, Arginine, Messenger, Neuroscience (all), Medicine (all), PC12 Cells, Androgen, Mice, Transactivation, 0302 clinical medicine, SBMA, androgen receptor, Chlorocebus aethiops, Receptors, Drosophila Proteins, Phosphorylation, Animals, COS Cells, Cercopithecus aethiops, Drosophila, HEK293 Cells, Humans, Muscular Disorders, Atrophic, Nuclear Proteins, Peptides, Proto-Oncogene Proteins c-akt, RNA, Messenger, Rats, Real-Time Polymerase Chain Reaction, Receptors, Androgen, 0303 health sciences, General Neuroscience, Neurodegeneration, Methylation, 3. Good health, PRMT6, Neuroscience(all), Biology, Article, 03 medical and health sciences, medicine, Protein kinase B, 030304 developmental biology, Atrophic, medicine.disease, Molecular biology, Androgen receptor, Muscular Disorders, Spinal and bulbar muscular atrophy, androgen receptor , PRMT6, SBMA, RNA, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa93981b65a045bd03135bc6373fec5a
http://www.sciencedirect.com/science/article/pii/S0896627314011404 -
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المؤلفون: Angelo Poletti, Chiara Scaramuzzino, Carmelo Milioto, María José Polanco, Maria Pennuto, Mariarita Galbiati, Fabio Sambataro, Anna Rocchi, Emanuela Ognio, Laura Emionite, Tanya Aggarwal
مصطلحات موضوعية: Male, Aging, Nandrolone decanoate, Transgenic, Androgen, Mice, Anabolic Agents, Superoxide Dismutase-1, Receptors, Nandrolone, Orchiectomy, Amyotrophic lateral sclerosis, Motor Neurons, Cell Death, Medicine (all), General Neuroscience, Skeletal, Androgen receptor, medicine.anatomical_structure, Spinal Cord, Receptors, Androgen, Androgens, Muscle, Genetically modified mouse, Aggregation, ALS, Amyotrophic Lateral Sclerosis, Animals, Disease Models, Animal, Humans, Hypertrophy, Mice, Transgenic, Muscle, Skeletal, Superoxide Dismutase, Neuroscience (all), Developmental Biology, Geriatrics and Gerontology, Neurology (clinical), medicine.medical_specialty, medicine.drug_class, SOD1, Biology, Internal medicine, medicine, Animal, Skeletal muscle, Motor neuron, medicine.disease, Endocrinology, Disease Models
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dc2ef64d2e9144688cedd5e12ec9e92
http://hdl.handle.net/11577/3257870 -
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المؤلفون: Nicholas A. Lanson, Udai Bhan Pandey, Ian Casci, Astha Maltare, Maria Pennuto, Chiara Scaramuzzino, Carmelo Milioto, Frank O. Fackelmayer, Tanya Aggarwal, John Monaghan
المصدر: PLoS ONE, Vol 8, Iss 4, p e61576 (2013)
PLoS ONEمصطلحات موضوعية: Genetics and Molecular Biology (all), Protein-Arginine N-Methyltransferases, Methyltransferase, Adenosine, Arginine, Mutant, lcsh:Medicine, medicine.disease_cause, Biochemistry, Inclusion bodies, 0302 clinical medicine, Cytosol, Neurobiology of Disease and Regeneration, Drosophila Proteins, Enzyme Inhibitors, lcsh:Science, Inclusion Bodies, 0303 health sciences, Mutation, Multidisciplinary, Medicine (all), Drosophila Melanogaster, Neurodegeneration, Neurodegenerative Diseases, Methylation, Animal Models, Protein Transport, Neurology, Gene Knockdown Techniques, Medicine, Protein Binding, Subcellular Fractions, Research Article, Biology, Protein Chemistry, 03 medical and health sciences, Model Organisms, medicine, Animals, Humans, Agricultural and Biological Sciences (all), Biochemistry, Genetics and Molecular Biology (all), Protein Interactions, 030304 developmental biology, Motor Systems, Amyotrophic Lateral Sclerosis, lcsh:R, Wild type, Membrane Proteins, Proteins, Methyltransferases, medicine.disease, Molecular biology, Repressor Proteins, Disease Models, Animal, HEK293 Cells, RNA-Binding Protein FUS, Mutant Proteins, lcsh:Q, 030217 neurology & neurosurgery, Gene Deletion, Neuroscience