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1دورية أكاديمية
المؤلفون: Park, Joohyun, Deininger, Natalie, Rautenberg, Maren, Saft, Carsten, Harmuth, Florian, Sturm, Marc, Riess, Olaf, Schöls, Ludger, Synofzik, Matthis, Haack, Tobias B
المصدر: Genetics in medicine 23(6), 1171 - 1172 (2021). doi:10.1038/s41436-021-01104-1
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Ataxia, Cerebellar Ataxia: genetics, Cognitive Dysfunction: genetics, Humans, Nervous System Diseases, Ubiquitin-Protein Ligases: genetics, STUB1 protein, human, Ubiquitin-Protein Ligases
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1530-0366; info:eu-repo/semantics/altIdentifier/issn/1098-3600; info:eu-repo/semantics/altIdentifier/pmid/pmid:33564152; https://pub.dzne.de/record/157706Test; https://pub.dzne.de/search?p=id:%22DZNE-2021-01163%22Test
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2دورية أكاديمية
المؤلفون: Cunha, Paulina, Petit, Emilien, Rocca, Clarissa, De Michele, Giovanna, Minnerop, Martina, Ewenczyk, Claire, Santorelli, Filippo M, Heinzmann, Anna, Bird, Thomas, Amprosi, Matthias, Indelicato, Elisabetta, Benussi, Alberto, Coutelier, Marie, Charles, Perrine, Stendel, Claudia, Romano, Silvia, Scarlato, Marina, Le Ber, Isabelle, Bassi, Maria Teresa, Serrano, Mercedes, Schmitz-Hübsch, Tanja, Doss, Sarah, Van Velzen, Gijs A J, Coarelli, Giulia, Thomas, Quentin, Trabacca, Antonio, Ortigoza-Escobar, Juan Dario, D'Arrigo, Stefano, Timmann, Dagmar, Pantaleoni, Chiara, Martinuzzi, Andrea, Besse-Pinot, Elsa, Marsili, Luca, Cioffi, Ettore, Mariotti, Caterina, Nicita, Francesco, Giorgetti, Alejandro, Moroni, Isabella, Romaniello, Romina, Casali, Carlo, Ponger, Penina, Casari, Giorgio, De Bot, Susanne T, Ristori, Giovanni, Blumkin, Lubov, Faber, Jennifer, Borroni, Barbara, Goizet, Cyril, Marelli, Cecilia, Boesch, Sylvia, Anheim, Mathieu, Filla, Alessandro, Houlden, Henry, Bertini, Enrico, Klopstock, Thomas, Synofzik, Matthis, Van Gaalen, Judith, Riant, Florence, Zanni, Ginevra, Magri, Stefania, Di Bella, Daniela, Nanetti, Lorenzo, Sequeiros, Jorge, Oliveira, Jorge, Van de Warrenburg, Bart, Schöls, Ludger, Taroni, Franco, Damasio, Joana, Brice, Alexis, Durr, Alexandra, Fleszar, Zofia, Tosi, Michele
المصدر: The American journal of human genetics 110(7), 1098 - 1109 (2023). doi:10.1016/j.ajhg.2023.05.009
مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Humans, Spinocerebellar Ataxias: genetics, Spinocerebellar Ataxias: diagnosis, Cerebellar Ataxia: genetics, Phenotype, Ataxia: genetics, Genetic Testing, ATPases Associated with Diverse Cellular Activities: genetics, ATP-Dependent Proteases: genetics, Ubiquitin-Protein Ligases: genetics, Spinocerebellar Ataxia, SCA, CACNA1A, PRKCG, AFG3L2, ITPR1, STUB1, SPTBN2, KCNC3, onset, AFG3L2 protein, human, ATPases Associated with Diverse Cellular Activities, ATP-Dependent Proteases, STUB1 protein, Ubiquitin-Protein Ligases
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:37301203; info:eu-repo/semantics/altIdentifier/issn/1537-6605; info:eu-repo/semantics/altIdentifier/issn/0002-9297; https://pub.dzne.de/record/258998Test; https://pub.dzne.de/search?p=id:%22DZNE-2023-00711%22Test
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3دورية أكاديمية
المصدر: Stem cell research 34, 101378 (2019). doi:10.1016/j.scr.2018.101378
مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Adult, CRISPR-Cas Systems: genetics, Cell Culture Techniques: methods, Cell Line, Female, Gene Knockout Techniques, Genetic Loci, Homozygote, Humans, Induced Pluripotent Stem Cells: cytology, Ubiquitin-Protein Ligases: genetics, STUB1 protein, human, Ubiquitin-Protein Ligases
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1873-5061; info:eu-repo/semantics/altIdentifier/issn/1876-7753; info:eu-repo/semantics/altIdentifier/pmid/pmid:30605842; https://pub.dzne.de/record/140521Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-06843%22Test
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4دورية أكاديمية
المؤلفون: Zhou, P, Ding, X, Wan, X, Liu, L, Yuan, X, Zhang, W, Hui, X, Meng, G, Xiao, H, Li, B, Zhong, J, Hou, F, Deng, L, Zhang, Y
المساهمون: DEPT OF BIOCHEMISTRY
المصدر: Unpaywall 20201031
مصطلحات موضوعية: protein, protein MLL5, protein STUB1, retinoic acid inducible protein I, ubiquitin protein ligase E3, unclassified drug, antivirus agent, Ddx58 protein, mouse, DNA binding protein, histone lysine methyltransferase, MLL5 protein, human, proteasome, STUB1 protein, ubiquitin protein ligase, cytoplasm, degradation, gene, gene expression, genetic analysis, immune response, rodent, animal cell, animal experiment, animal model, animal tissue, antiviral activity, Article, controlled study
العلاقة: Zhou, P, Ding, X, Wan, X, Liu, L, Yuan, X, Zhang, W, Hui, X, Meng, G, Xiao, H, Li, B, Zhong, J, Hou, F, Deng, L, Zhang, Y (2018). MLL5 suppresses antiviral innate immune response by facilitating STUB1-mediated RIG-I degradation. Nature Communications 9 (1) : 1243. ScholarBank@NUS Repository. https://doi.org/10.1038/s41467-018-03563-8Test; https://scholarbank.nus.edu.sg/handle/10635/178419Test
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5دورية أكاديمية
المؤلفون: Schuster, Stefanie, Schelling, Yvonne, Synofzik, Matthis, Höflinger, Philip, Schöls, Ludger, Hauser, Stefan
المصدر: Stem cell research 29, 166-169 (2018). doi:10.1016/j.scr.2018.04.001
مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Cellular Reprogramming Techniques, Cerebellar Ataxia: genetics, Cerebellar Ataxia: metabolism, Cerebellar Ataxia: pathology, Child, DNA Mutational Analysis, Fibroblasts: metabolism, Fibroblasts: pathology, Gonadotropin-Releasing Hormone: deficiency, Gonadotropin-Releasing Hormone: genetics, Gonadotropin-Releasing Hormone: metabolism, Humans, Hypogonadism: genetics, Hypogonadism: metabolism, Hypogonadism: pathology, Induced Pluripotent Stem Cells: metabolism, Induced Pluripotent Stem Cells: pathology, Male, Mutation, Polymorphism, Single Nucleotide, Skin: metabolism, Skin: pathology, Ubiquitin-Protein Ligases: genetics, Ubiquitin-Protein Ligases: metabolism, Gonadotropin-Releasing Hormone, STUB1 protein, human, Ubiquitin-Protein Ligases
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1873-5061; info:eu-repo/semantics/altIdentifier/pmid/pmid:29679845; info:eu-repo/semantics/altIdentifier/issn/1876-7753; https://pub.dzne.de/record/140002Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-06324%22Test
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6دورية أكاديمية
المؤلفون: Türkgenç, Burcu, Şanlıdağ, Burçin, Eker, Amber, Giray, Aslı, Kütük, Özgür, Yakıcıer, Cengiz, Tolun, Aslıhan
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Histoloji ve Embriyoloji Anabilim Dalı., orcid:0000-0002-9802-0880, Temel, Şehime Gülsün, AAG-8385-2021, 6507885442
مصطلحات موضوعية: Genetics & heredity, 3 ' UTR, Cerebellar atrophy, Polyadenylation, SCAR16, STUB1, Messenger-RNA polyadenylation, Beta-globin gene, Thalassemia, Mutation, Cleavage, Sequence, Site, 3' untranslated regions, Brain, Cerebellar ataxia, DNA mutational analysis, Genetic variation, Humans, Magnetic resonance imaging, Pedigree, Poly A, Ubiquitin-protein ligases, Protein, Tetratricopeptide Repeat, Spinocerebellar Ataxias, Hemoglobin A, Messenger RNA, Polyadenylic acid, STUB1 protein
وصف الملف: application/pdf
العلاقة: 114Z829; Makale - Uluslararası Hakemli Dergi; Human Mutation; Yurt dışı; Yurt içi; Sanayi; Türkgenç, B. vd. (2018). ''STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16''. Human Mutation, 39(10), 1344-1348.; https://doi.org/10.1002/humu.23601Test; http://hdl.handle.net/11452/30371Test; 000444948000004; 2-s2.0-85052532576; 1344; 1348; 39; 10
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7دورية أكاديمية
المؤلفون: Narayan, V, Landré, V, Ning, J, Hernychova, L, Muller, P, Verma, C, Walkinshaw, M.D, Blackburn, E.A, Ball, K.L
المساهمون: BIOLOGY (NU)
المصدر: Unpaywall 20201031
مصطلحات موضوعية: carboxyl terminus of hsc70 interacting protein, chaperone, heat shock protein 70, interferon regulatory factor 1, protein p53, regulator protein, tetratricopeptide repeat protein, ubiquitin protein ligase E3, unclassified drug, proteasome, protein binding, STUB1 protein, human, ubiquitin protein ligase, allosterism, Article, binding affinity, binding site, biochemical analysis, carboxy terminal sequence, conformational transition, controlled study, deuterium hydrogen exchange, enzyme activity, enzyme specificity, mass spectrometry, molecular docking, molecular dynamics, mouse, mutation
العلاقة: Narayan, V, Landré, V, Ning, J, Hernychova, L, Muller, P, Verma, C, Walkinshaw, M.D, Blackburn, E.A, Ball, K.L (2015). Protein-protein interactions modulate the docking-dependent E3-ubiquitin ligase activity of carboxy-terminus of Hsc70-interacting protein (CHIP). Molecular and Cellular Proteomics 14 (11) : 2973-2987. ScholarBank@NUS Repository. https://doi.org/10.1074/mcp.M115.051169Test; https://scholarbank.nus.edu.sg/handle/10635/181422Test
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8
المؤلفون: Joohyun Park, Maren Rautenberg, Olaf Riess, Florian Harmuth, Natalie Deininger, Carsten Saft, Marc Sturm, Ludger Schöls, Tobias B. Haack, Matthis Synofzik
المصدر: Genetics in medicine 23(6), 1171-1172 (2021). doi:10.1038/s41436-021-01104-1
مصطلحات موضوعية: genetics [Ubiquitin-Protein Ligases], genetics [Cerebellar Ataxia], business.industry, Ubiquitin-Protein Ligases, genetics [Cognitive Dysfunction], Biology, Text mining, Humans, Ataxia, ddc:610, Nervous System Diseases, business, Cognitive impairment, Neuroscience, Genetics (clinical), STUB1 protein, human
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f812fa7947d3867e2fd268d4f8c8db97Test
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9
المؤلفون: Nicola Antonino Russo, Matthis Synofzik, Omar Torres-Quesada, Sonia Piccinin, Federica Moraca, Herbert Lindner, Bruno Catalanotti, Antonio Feliciello, Ulrich Stelzl, Verena Bachmann, Rossella Delle Donne, Laura Rinaldi, Corrado Garbi, Robert Nisticò, Antonella Scorziello, Lucio Annunziato, Francesco Chiuso, Eduard Stefan, Florian Enzler
المساهمون: Rinaldi, L., Delle Donne, R., Catalanotti, B., Torres-Quesada, O., Enzler, F., Moraca, F., Nistico', ROBERT GIOVANNI, Chiuso, Francesco, Piccinin, S., Bachmann, V., Lindner, H. H., Garbi, C., Scorziello, A., Russo, N. A., Synofzik, M., Stelzl, U., Annunziato, L., Stefan, Eduard, Feliciello, A.
المصدر: Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Nature Communications 10(1), 2572 (2019). doi:10.1038/s41467-019-10037-yمصطلحات موضوعية: 0301 basic medicine, pathology [Spinocerebellar Ataxias], Molecular Chaperone, Ubiquitin-Protein Ligase, Ubiquitylation, Leupeptins, metabolism [Cyclic AMP-Dependent Protein Kinase Catalytic Subunits], benzyloxycarbonylleucyl-leucyl-leucine aldehyde, General Physics and Astronomy, 02 engineering and technology, drug effects [Feedback, Physiological], Hippocampus, Mice, Ubiquitin, HEK293 Cell, Cyclic AMP, genetics [Spinocerebellar Ataxias], antagonists & inhibitors [HSP70 Heat-Shock Proteins], Proteolysi, Phosphorylation, Receptor, lcsh:Science, metabolism [Molecular Chaperones], genetics [Ubiquitin-Protein Ligases], Feedback, Physiological, HSP70 Heat-Shock Protein, Multidisciplinary, biology, Chemistry, Effector, pharmacology [Purine Nucleosides], Settore BIO/14, 021001 nanoscience & nanotechnology, 3. Good health, Ubiquitin ligase, Cell biology, VER 155008, pharmacology [Leupeptins], Holoenzyme, drug effects [Protein Binding], Fibroblast, ddc:500, 0210 nano-technology, metabolism [Cyclic AMP], Stub1 protein, mouse, Human, Cell signalling, Protein Binding, Signal Transduction, drug effects [Signal Transduction], congenital, hereditary, and neonatal diseases and abnormalities, Science, Ubiquitin-Protein Ligases, Primary Cell Culture, Leupeptin, Purine Nucleoside, General Biochemistry, Genetics and Molecular Biology, metabolism [Holoenzymes], Article, 03 medical and health sciences, metabolism [Ubiquitin-Protein Ligases], Hippocampu, physiology [Signal Transduction], Animals, Humans, Spinocerebellar Ataxias, HSP70 Heat-Shock Proteins, Protein kinase A, STUB1 protein, human, Spinocerebellar Ataxia, Cyclic AMP-Dependent Protein Kinase Catalytic Subunits, Animal, HEK 293 cells, drug effects [Proteolysis], Ubiquitination, General Chemistry, Purine Nucleosides, Fibroblasts, physiology [Feedback, Physiological], Mice, Inbred C57BL, 030104 developmental biology, pathology [Hippocampus], HEK293 Cells, Ubiquitin ligases, Chaperone (protein), Proteolysis, biology.protein, lcsh:Q, Cyclic AMP-Dependent Protein Kinase Catalytic Subunit, Holoenzymes, physiology [Ubiquitination], Molecular Chaperones
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec72f16970a20ebd84c46f8fee3a1473Test
http://europepmc.org/articles/PMC6561907Test -
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المصدر: Stem cell research 34, 101378 (2019). doi:10.1016/j.scr.2018.101378
Stem Cell Research, Vol 34, Iss, Pp-(2019)مصطلحات موضوعية: genetics [Ubiquitin-Protein Ligases], Adult, Ubiquitin-Protein Ligases, Homozygote, Induced Pluripotent Stem Cells, Cell Culture Techniques, cytology [Induced Pluripotent Stem Cells], Cell Line, Gene Knockout Techniques, lcsh:Biology (General), Genetic Loci, ddc:570, methods [Cell Culture Techniques], Humans, Female, CRISPR-Cas Systems, lcsh:QH301-705.5, genetics [CRISPR-Cas Systems], STUB1 protein, human
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::40a995ea112a51750bc1ba286050faffTest
https://pubmed.ncbi.nlm.nih.gov/30605842Test
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