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1
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: genetics [Ubiquitin-Protein Ligases], genetics [Cerebellar Ataxia], Ubiquitin-Protein Ligases, Spinocerebellar Ataxia, SCA, CACNA1A, PRKCG, AFG3L2, ITPR1, STUB1, SPTBN2, KCNC3, onset, genetics [Ataxia], AFG3L2 protein, human, Phenotype, ATP-Dependent Proteases, ddc:570, genetics [ATP-Dependent Proteases], Humans, ATPases Associated with Diverse Cellular Activities, diagnosis [Spinocerebellar Ataxias], genetics [ATPases Associated with Diverse Cellular Activities], genetics [Spinocerebellar Ataxias], Genetic Testing, STUB1 protein, human
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2
المؤلفون: Friedemann Bender, Tobias B. Haack, Alejandra Leyva-Gutiérrez, Stefan Hauser, Selina Reich, Matthis Synofzik, Andreas Traschütz, David Mengel
المصدر: Journal of Neurology
J Neurol
Journal of neurology 268(10), 3845-3851 (2021). doi:10.1007/s00415-021-10524-7مصطلحات موضوعية: Adult, 0301 basic medicine, Spastic gait, Ataxia, Cerebellar Ataxia, Ubiquitin-Protein Ligases, Early-onset ataxia, Disease, 030105 genetics & heredity, Biology, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, SCA48, medicine, Humans, Spinocerebellar Ataxias, Dominant, ddc:610, Index case, Exome sequencing, genetics [Ubiquitin-Protein Ligases], Genetics, Sanger sequencing, Original Communication, CHIP, genetics [Ataxia], medicine.disease, Phenotype, Pedigree, Neurology, symbols, Neurology (clinical), medicine.symptom, STUB1, Myoclonus, 030217 neurology & neurosurgery
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3
المؤلفون: Tina, Harmuth, Jonasz J, Weber, Anna J, Zimmer, Anna S, Sowa, Jana, Schmidt, Julia C, Fitzgerald, Ludger, Schöls, Olaf, Riess, Jeannette, Hübener-Schmid
المصدر: International journal of molecular sciences 23(11), 5933 (2022). doi:10.3390/ijms23115933 special issue: "Mitochondrial Function in Neurodegenerative Diseases"
مصطلحات موضوعية: genetics [Ubiquitin-Protein Ligases], metabolism [Voltage-Dependent Anion Channel 1], metabolism [Ataxin-3], Ubiquitin-Protein Ligases, Voltage-Dependent Anion Channel 1, Machado-Joseph Disease, metabolism [Mitochondria], Mitochondria, genetics [Ataxin-3], metabolism [Ubiquitin-Protein Ligases], genetics [Machado-Joseph Disease], ddc:540, Humans, genetics [Voltage-Dependent Anion Channel 1], genetics [Mitochondria], metabolism [Machado-Joseph Disease], Ataxin-3
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4
المؤلفون: Phan Q. Duy, Stefan C. Weise, Claudia Marini, Xiao-Jun Li, Dan Liang, Peter J. Dahl, Shaojie Ma, Ana Spajic, Weilai Dong, Jane Juusola, Emre Kiziltug, Adam J. Kundishora, Sunil Koundal, Maysam Z. Pedram, Lucia A. Torres-Fernández, Kristian Händler, Elena De Domenico, Matthias Becker, Thomas Ulas, Stefan A. Juranek, Elisa Cuevas, Le Thi Hao, Bettina Jux, André M. M. Sousa, Fuchen Liu, Suel-Kee Kim, Mingfeng Li, Yiying Yang, Yutaka Takeo, Alvaro Duque, Carol Nelson-Williams, Yonghyun Ha, Kartiga Selvaganesan, Stephanie M. Robert, Amrita K. Singh, Garrett Allington, Charuta G. Furey, Andrew T. Timberlake, Benjamin C. Reeves, Hannah Smith, Ashley Dunbar, Tyrone DeSpenza, June Goto, Arnaud Marlier, Andres Moreno-De-Luca, Xin Yu, William E. Butler, Bob S. Carter, Evelyn M. R. Lake, R. Todd Constable, Pasko Rakic, Haifan Lin, Engin Deniz, Helene Benveniste, Nikhil S. Malvankar, Juvianee I. Estrada-Veras, Christopher A. Walsh, Seth L. Alper, Joachim L. Schultze, Katrin Paeschke, Angelika Doetzlhofer, F. Gregory Wulczyn, Sheng Chih Jin, Richard P. Lifton, Nenad Sestan, Waldemar Kolanus, Kristopher T. Kahle
المصدر: Nat Neurosci
Nature neuroscience 25(4), 458-473 (2022). doi:10.1038/s41593-022-01043-3مصطلحات موضوعية: cerebrospinal fluid [Hydrocephalus], genetics [Ubiquitin-Protein Ligases], General Neuroscience, Neurogenesis, Ubiquitin-Protein Ligases, Brain, genetics [Tripartite Motif Proteins], Whole Exome Sequencing, Article, Biomechanical Phenomena, Tripartite Motif Proteins, metabolism [Cerebrospinal Fluid], Mice, metabolism [Tripartite Motif Proteins], metabolism [Brain], genetics [Hydrocephalus], genetics [Neurogenesis], Exome Sequencing, Animals, Humans, ddc:610, TRIM71 protein, human, Cerebrospinal Fluid, Hydrocephalus
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5Disrupting Roquin-1 interaction with Regnase-1 induces autoimmunity and enhances antitumor responses
المؤلفون: Stephanie L. Edelmann, Laura S. de Jonge, Lisa Kifinger, Wolfgang Wurst, Florian Giesert, Christine Hohn, Naoto Kawakami, Sebastian Theurich, Mingui Fu, Dierk Niessing, Nina Kronbeck, Martin E. Kirmaier, Vigo Heissmeyer, Timsse Raj, Thomas Monecke, Elena S. Davydova, Elaine H. Wong, Stefan Feske, Gesine Behrens, Mariano Gonzalez Pisfil
المصدر: Nat Immunol
Nat. Immunol. 22, 1563-1576 (2021)
Nature immunology 22(12), 1563-1576 (2021). doi:10.1038/s41590-021-01064-3مصطلحات موضوعية: Cytotoxicity, Immunologic, Male, Skin Neoplasms, T-Lymphocytes, Melanoma, Experimental, Autoimmunity, medicine.disease_cause, Zc3h12a protein, mouse, Immunotherapy, Adoptive, immunology [T-Lymphocytes], Tumor Microenvironment, Immunology and Allergy, genetics [Ribonucleases], metabolism [Repressor Proteins], genetics [Ubiquitin-Protein Ligases], Mutation, therapy [Skin Neoplasms], transplantation [T-Lymphocytes], metabolism [Skin Neoplasms], Cell biology, medicine.anatomical_structure, therapy [Melanoma, Experimental], Phenotype, Female, Protein Binding, T cell, Ubiquitin-Protein Ligases, Immunology, Mice, Transgenic, Biology, immunology [Melanoma, Experimental], Article, Proinflammatory cytokine, genetics [Skin Neoplasms], Immune system, metabolism [Ubiquitin-Protein Ligases], Ribonucleases, medicine, Animals, Humans, ddc:610, metabolism [T-Lymphocytes], Autoantibody, genetics [Melanoma, Experimental], Germinal center, Immunity, Humoral, Mice, Inbred C57BL, Repressor Proteins, genetics [Repressor Proteins], HEK293 Cells, immunology [Skin Neoplasms], Rc3h1 protein, mouse, metabolism [Melanoma, Experimental], metabolism [Ribonucleases], roquin-2 protein, mouse, CD8, HeLa Cells
وصف الملف: application/pdf
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6
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
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7Academic Journal
المؤلفون: Corti, Olga, Brice, Alexis
المساهمون: Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut national de la santé et de la recherche médicale, Association France Parkinson, Fondation de France, Agence Nationale de la Recherche, MEFOPA (funded by the EU 7th Framework Programme, Grant Agreement HEALTH-2009-241791), Fondation ICM, the French Ministry of Higher Education and Research, "Investissements d'avenir" ANR-10-IAIHU-06., European Project: 241791,HEALTH,FP7-HEALTH-2009-single-stage,MEFOPA(2010)
المصدر: ISSN: 0959-4388 ; Current Opinion in Neurobiology ; https://inserm.hal.science/inserm-00876368 ; Current Opinion in Neurobiology, 2013, 23 (1), pp.100-108. ⟨10.1016/j.conb.2012.11.002⟩.
مصطلحات موضوعية: MESH: Animals Humans Mitochondria/genetics Mitochondria/metabolism* Parkinson Disease/genetics Parkinson Disease/metabolism Parkinson Disease/physiopathology* Protein Kinases/genetics Protein Kinases/metabolism* Ubiquitin-Protein Ligases/genetics Ubiquitin-Protein Ligases/metabolism, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Relation: info:eu-repo/semantics/altIdentifier/pmid/23206589; info:eu-repo/grantAgreement//241791/EU/European Project on Mendelian Forms of Parkinson's Disease/MEFOPA; inserm-00876368; https://inserm.hal.science/inserm-00876368; https://inserm.hal.science/inserm-00876368/document; https://inserm.hal.science/inserm-00876368/file/Corti_Brice_Revised_Figure_2.pdf; https://inserm.hal.science/inserm-00876368/file/Corti_Brice_Revised_Figure_1.pdf; https://inserm.hal.science/inserm-00876368/file/Corti_Brice_Revised_Highlights.pdf; https://inserm.hal.science/inserm-00876368/file/Corti_Brice_Revised_Manuscript.pdf; PUBMED: 23206589
الاتاحة: https://inserm.hal.science/inserm-00876368
https://inserm.hal.science/inserm-00876368/document
https://inserm.hal.science/inserm-00876368/file/Corti_Brice_Revised_Figure_2.pdf
https://inserm.hal.science/inserm-00876368/file/Corti_Brice_Revised_Figure_1.pdf
https://inserm.hal.science/inserm-00876368/file/Corti_Brice_Revised_Highlights.pdf
https://inserm.hal.science/inserm-00876368/file/Corti_Brice_Revised_Manuscript.pdf
https://doi.org/10.1016/j.conb.2012.11.002 -
8
المؤلفون: Schuster, S., Heuten, E., Velic, A., Admard, J., Synofzik, M., Ossowski, S., Macek, B., Hauser, S., Schöls, L.
المصدر: Disease Models & Mechanisms
article-version (VoR) Version of Record
Disease models & mechanisms 13(10), dmm045096-(2020). doi:10.1242/dmm.045096
Disease Models & Mechanisms, Vol 13, Iss 10 (2020)مصطلحات موضوعية: Cortical neurons, CHIP/STUB1, Proteome, Cell Survival, Ubiquitin-Protein Ligases, Induced Pluripotent Stem Cells, lcsh:Medicine, genetics [Mutation], genetics [Heat-Shock Response], chemistry [Ubiquitin-Protein Ligases], Protein Refolding, metabolism [Ubiquitin-Protein Ligases], ddc:570, lcsh:Pathology, pathology [Neurons], Humans, CRISPR/Cas9, genetics [Ubiquitin-Protein Ligases], Neurons, Heat shock response, lcsh:R, SCAR16, Ubiquitination, cytology [Induced Pluripotent Stem Cells], metabolism [Proteome], Fibroblasts, Induced pluripotent stem cells, Oxidative Stress, metabolism [Neurons], Mutation, pathology [Fibroblasts], metabolism [Fibroblasts], Biomarkers, Heat-Shock Response, lcsh:RB1-214, metabolism [Biomarkers], Research Article
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9
المؤلفون: Birgitt Schüle, Faria Zafar, C. Alejandra Morato Torres, Danuta Sastre, Zinah Wassouf, Tiago F. Outeiro
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 5724, p 5724 (2020)
International Journal of Molecular Sciences
International journal of molecular sciences 21(16), 5724-(2020). doi:10.3390/ijms21165724مصطلحات موضوعية: Male, Parkinson's disease, blood [Autism Spectrum Disorder], Autism Spectrum Disorder, alpha-synuclein, Gene Dosage, SNCA, Review, Disease, lcsh:Chemistry, Fragile X Mental Retardation Protein, Mice, chemistry.chemical_compound, 0302 clinical medicine, genetics [Parkinson Disease], blood [Parkinson Disease], genetics, Child, lcsh:QH301-705.5, Spectroscopy, genetics [Ubiquitin-Protein Ligases], Aged, 80 and over, 0303 health sciences, blood [alpha-Synuclein], synaptic dysfunction, Neurodegeneration, neurodegeneration, Parkinson Disease, General Medicine, Middle Aged, Computer Science Applications, 3. Good health, genetics [Neurogenesis], Autism spectrum disorder, Child, Preschool, ddc:540, genetics [alpha-Synuclein], genetics [Autism Spectrum Disorder], Female, pathology [Synapses], Adult, Adolescent, Neurogenesis, Ubiquitin-Protein Ligases, autism spectrum disorders, Context (language use), Biology, genetics [Fragile X Mental Retardation Protein], Catalysis, Inorganic Chemistry, 03 medical and health sciences, genetics [DiGeorge Syndrome], neuronal development, DiGeorge Syndrome, medicine, Animals, Humans, Point Mutation, PARK2, Physical and Theoretical Chemistry, Molecular Biology, Aged, 030304 developmental biology, Alpha-synuclein, Organic Chemistry, Infant, Newborn, Infant, metabolism [Synapses], medicine.disease, FMR1, Disease Models, Animal, lcsh:Biology (General), lcsh:QD1-999, chemistry, 22q11.2 deletion syndrome, Synapses, Parkinson’s disease, Trinucleotide repeat expansion, Neuroscience, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Sheila Hoffmann-Conaway, Marisa M Brockmann, Katharina Schneider, Anil Annamneedi, Kazi Atikur Rahman, Christine Bruns, Kathrin Textoris-Taube, Thorsten Trimbuch, Karl-Heinz Smalla, Christian Rosenmund, Eckart D Gundelfinger, Craig Curtis Garner, Carolina Montenegro-Venegas
المصدر: eLife, Vol 9 (2020)
eLife 9, e56590 (2020). doi:10.7554/eLife.56590
eLife, 9:e56590
eLifeمصطلحات موضوعية: Male, genetics [Synaptic Vesicles], Mouse, Vesicle-Associated Membrane Protein 2, E3 ubiquitin ligases, Hippocampus, parkin, ultrastructure [Hippocampus], Biology (General), Cells, Cultured, genetics [Nerve Tissue Proteins], presynapse, Mice, Knockout, genetics [Ubiquitin-Protein Ligases], Membrane Glycoproteins, metabolism [Vesicle-Associated Membrane Protein 2], ultrastructure [Presynaptic Terminals], enzymology [Synaptic Vesicles], Medicine, Female, Synaptic Vesicles, Research Article, Signal Transduction, autophagy, QH301-705.5, Ubiquitin-Protein Ligases, Science, Presynaptic Terminals, Nerve Tissue Proteins, ubiquitination, enzymology [Presynaptic Terminals], ultrastructure [Synaptic Vesicles], enzymology [Hippocampus], metabolism [Ubiquitin-Protein Ligases], Autophagy, Animals, metabolism [Nerve Tissue Proteins], deficiency [Nerve Tissue Proteins], bassoon, Ubiquitination, Mice, Inbred C57BL, Proteolysis, Proteostasis, mouse, neuroscience, ddc:600, metabolism [Membrane Glycoproteins], Neuroscience
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11
المؤلفون: Annika Meinander, Meike Broemer, Christa Kietz, Anna L. Aalto, Aravind K. Mohan, Henning Walczak, Lukas Schwintzer, Sebastian Kupka
المصدر: Cell Death and Differentiation
Cell death and differentiation 26(5), 860-876 (2018). doi:10.1038/s41418-018-0164-xمصطلحات موضوعية: 0301 basic medicine, genetics [Bacterial Infections], pathogenicity [Gram-Negative Bacteria], Regulator, IκB kinase, Inhibitor of Apoptosis Proteins, genetics [Protein Processing, Post-Translational], 0302 clinical medicine, genetics [Drosophila Proteins], Ubiquitin, genetics [Ubiquitin], Drosophila Proteins, genetics [RNA-Binding Proteins], genetics [Ubiquitination], Pathogen, genetics [Ubiquitin-Protein Ligases], biology, NF-kappa B, RNA-Binding Proteins, Bacterial Infections, Chronic inflammation, genetics [Transcription Factors], microbiology [Inflammation], 3. Good health, Ubiquitin ligase, Cell biology, genetics [Inhibitor of Apoptosis Proteins], 030220 oncology & carcinogenesis, Drosophila, Signal Transduction, Ubiquitin-Protein Ligases, Transgene, genetics [Signal Transduction], Article, genetics [Inflammation], 03 medical and health sciences, Immune system, Gram-Negative Bacteria, genetics [Drosophila], pathology [Mouth], Animals, Humans, ddc:610, Ubiquitins, Molecular Biology, Gene, Inflammation, Mouth, microbiology [Mouth], fungi, Ubiquitination, Cell Biology, Immunity, Innate, genetics [Immunity, Innate], Disease Models, Animal, 030104 developmental biology, biology.protein, microbiology [Bacterial Infections], Protein Processing, Post-Translational, genetics [NF-kappa B], Transcription Factors
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12
المؤلفون: Klaus Berger, Franziska Hopfner, Gregor Kuhlenbäumer, Harald Grallert, Astrid Dempfle, Meike Kasten, Brit Mollenhauer, Olaf Junge, Lukas Tittmann, Juliane Winkelmann, Günter U. Höglinger, Barbara Schormair, Walter Maetzler, Stefanie H. Mueller, Martina Müller-Nurasyid, Christine Klein, Thomas Gasser, Silke Szymczak, Katja Lohmann, Sandra May, Claudia Trenkwalder, Konstantin Strauch, Michael Krawczak, Andre Franke, Günther Deuschl, Wolfgang Lieb, Daniela Berg
المصدر: Parkinsonism & related disorders 75, 24-26 (2020). doi:10.1016/j.parkreldis.2020.05.003
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Parkinson's disease, Ubiquitin-Protein Ligases, Protein Deglycase DJ-1, MEDLINE, genetics [Protein Deglycase DJ-1], PINK1, Late onset, 03 medical and health sciences, 0302 clinical medicine, genetics [Parkinson Disease], medicine, Humans, ddc:610, Age of Onset, 030304 developmental biology, Aged, genetics [Ubiquitin-Protein Ligases], 0303 health sciences, business.industry, genetics [Protein Kinases], PARK7, Parkinson Disease, Middle Aged, medicine.disease, Neurology, Female, Neurology (clinical), Geriatrics and Gerontology, business, Protein Kinases, 030217 neurology & neurosurgery
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13
المؤلفون: Christian Deuschle, Jenny Ghelfi, Micol Avenali, Alexander Zimprich, Simona Petrucci, Sylvie Delcambre, Sandro L. Pereira, Norbert Brüggemann, Thomas Gasser, Inke R. König, Anne Grünewald, Max Borsche, Richard J. Youle, Kobi Wasner, Alexander Balck, Katja Lohmann, Meike Kasten, Katja Badanjak, Philip Rosenstiel, Enza Maria Valente, Christine Klein, Kathrin Brockmann
المصدر: Brain 143(10), 3041-3051 (2020). doi:10.1093/brain/awaa246
Brain
info:eu-repo/grantAgreement/EC/H2020/668738مصطلحات موضوعية: 0301 basic medicine, Male, Parkinson's disease, parkinson’s disease, blood [DNA, Mitochondrial], Disease, Biochemistry, biophysics & molecular biology [F05] [Life sciences], medicine.disease_cause, Parkin, Pathogenesis, 0302 clinical medicine, Mitophagy, blood [Interleukin-6], parkin, pink1, Biochimie, biophysique & biologie moléculaire [F05] [Sciences du vivant], genetics [Ubiquitin-Protein Ligases], Mutation, blood [Biomarkers], AcademicSubjects/SCI01870, Parkinsonism, genetics [Protein Kinases], Middle Aged, 3. Good health, genetics [Parkinsonian Disorders], Female, ccf-mtDNA, Adult, Ubiquitin-Protein Ligases, blood [Inflammation], PINK1, DNA, Mitochondrial, 03 medical and health sciences, genetics [Inflammation], Parkinsonian Disorders, medicine, Humans, ccf-mtdna, ddc:610, Aged, Retrospective Studies, Inflammation, business.industry, Interleukin-6, Original Articles, medicine.disease, IL6, nervous system diseases, il6, 030104 developmental biology, Cross-Sectional Studies, blood [Parkinsonian Disorders], Immunology, Parkinson’s disease, AcademicSubjects/MED00310, Neurology (clinical), business, Protein Kinases, 030217 neurology & neurosurgery, Biomarkers
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14
المؤلفون: Claudia Schulte, Milan Zimmermann, Jasmin Klopfer, Matthis Synofzik, Matthias Reimold, Jessica Hoffmann, Carlo Wilke, Kathrin Brockmann
المصدر: Parkinsonism & related disorders 55, 145-147 (2018). doi:10.1016/j.parkreldis.2018.06.006
مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, medicine.medical_specialty, Ubiquitin-Protein Ligases, parkin protein, genetics [Mutation], Neuropsychiatry, Parkin, 03 medical and health sciences, 0302 clinical medicine, Fluorodeoxyglucose F18, Internal medicine, Humans, Medicine, Dementia, ddc:610, genetics [Ubiquitin-Protein Ligases], medicine.diagnostic_test, business.industry, Parkinsonism, Middle Aged, diagnostic imaging [Parkinsonian Disorders], medicine.disease, Phenotype, 030104 developmental biology, Neurology, genetics [Parkinsonian Disorders], Positron emission tomography, Positron-Emission Tomography, pharmacokinetics [Fluorodeoxyglucose F18], Neurology (clinical), Geriatrics and Gerontology, business, 030217 neurology & neurosurgery, Frontotemporal dementia
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15
المؤلفون: Ebba Lohmann, Hasan Demirci, Atilla Uslu, Hasmet Hanagasi, Tamer Demiralp, Mehmet Ergen
المصدر: Clinical neurophysiology 131(7), 1444-1452 (2020). doi:10.1016/j.clinph.2020.02.030
مصطلحات موضوعية: Adult, Male, Elementary cognitive task, medicine.medical_specialty, Heterozygote, Ubiquitin-Protein Ligases, Early onset Parkinson's disease, Disease, Audiology, medicine.disease_cause, 050105 experimental psychology, Parkin, 03 medical and health sciences, 0302 clinical medicine, Event-related potential, genetics [Parkinson Disease], Physiology (medical), Medicine, Humans, 0501 psychology and cognitive sciences, Park2 gene, ddc:610, Age of Onset, Evoked Potentials, genetics [Ubiquitin-Protein Ligases], Mutation, business.industry, 05 social sciences, Cognition, Parkinson Disease, Middle Aged, Sensory Systems, pathology [Parkinson Disease], Neurology, Female, Neurology (clinical), physiopathology [Parkinson Disease], business, 030217 neurology & neurosurgery
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16
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
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17
المؤلفون: Ullrich Wüllner, Laura deBoni, Dominik Piston, Ina Schmitt, Oliver Kaut
المصدر: Journal of neurochemistry 139, 108-120 (2016). doi:10.1111/jnc.13646
مصطلحات موضوعية: 0301 basic medicine, Aging, Epigenetic regulation of neurogenesis, Epigenetics in learning and memory, Ubiquitin-Protein Ligases, metabolism [Parkinson Disease], parkin protein, Biology, Biochemistry, Epigenesis, Genetic, 03 medical and health sciences, Cellular and Molecular Neuroscience, metabolism [Ubiquitin-Protein Ligases], Epigenetics of physical exercise, physiology [DNA Methylation], genetics [Parkinson Disease], Animals, Humans, ddc:610, metabolism [Aging], metabolism [alpha-Synuclein], Epigenetics, Cancer epigenetics, Epigenomics, genetics [Ubiquitin-Protein Ligases], Genetics, Parkinson Disease, DNA Methylation, Chromatin, 030104 developmental biology, genetics [Aging], physiology [Epigenesis, Genetic], DNA methylation, genetics [alpha-Synuclein], alpha-Synuclein, diagnosis [Parkinson Disease]
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18
المؤلفون: Xylena Reed, Dena G. Hernandez, Andrew B. Singleton
المصدر: Journal of neurochemistry 139, 59-74 (2016). doi:10.1111/jnc.13593
مصطلحات موضوعية: 0301 basic medicine, Non-Mendelian inheritance, Ubiquitin-Protein Ligases, parkin protein, genetics [Mutation], Genome-wide association study, Disease, Biology, methods [Genome-Wide Association Study], Bioinformatics, Biochemistry, Article, Parkin, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, symbols.namesake, 0302 clinical medicine, genetics [Parkinson Disease], Animals, Humans, ddc:610, genetics [Ubiquitin-Protein Ligases], Alpha-synuclein, Genetics, Parkinson Disease, Penetrance, LRRK2, nervous system diseases, 030104 developmental biology, chemistry, Mutation, genetics [alpha-Synuclein], alpha-Synuclein, Mendelian inheritance, symbols, diagnosis [Parkinson Disease], 030217 neurology & neurosurgery, Genome-Wide Association Study
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المؤلفون: Bandres-Ciga, Sara, Ahmed, Sarah, Gómez-Garre, Pilar, Kia, Demis A, Tan, Manuela, Houlden, Henry, Morris, Huw R, Plun-Favreau, Helene, Holmans, Peter, Hardy, John, Trabzuni, Daniah, Bras, Jose, PhD, John Quinn, Jesús, Silvia, Mok, Kin Y, Kinghorn, Kerri J, Billingsley, Kimberley, Wood, Nicholas W, Lewis, Patrick, Schreglmann, Sebastian, Guerreiro, Rita, Lovering, Ruth, R'Bibo, Lea, Manzoni, Claudia, Labrador-Espinosa, Miguel A, Rizig, Mie, Ryten, Mina, Guelfi, Sebastian, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Williams, Nigel, Morrison, Karen E, Brice, Alexis, Danjou, Fabrice, Macias, Daniel, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Rizzu, Patrizia, Sharma, Manu, Gasser, Thomas, Méndez-Del-Barrio, Carlota, Nicolas, Aude, Cookson, Mark R, Blauwendraat, Cornelis, Craig, David W, Faghri, Faraz, Gibbs, J Raphael, Hernandez, Dena G, Keuren-Jensen, Kendall Van, Shulman, Joshua M, Periñán-Tocino, Teresa, Iwaki, Hirotaka, Leonard, Hampton L, Nalls, Mike A, Robak, Laurie, Lubbe, Steven, Finkbeiner, Steven, Mencacci, Niccolo E, Lungu, Codrin, Singleton, Andrew B, Scholz, Sonja W, Tejera-Parrado, Cristina, Reed, Xylena, Alcalay, Roy N, Gan-Or, Ziv, Rouleau, Guy A, Krohn, Lynne, van Hilten, Jacobus J, Marinus, Johan, Adarmes-Gómez, Astrid D, Aguilar, Miquel, Alvarez, Ignacio, Vargas-González, Laura, Alvarez, Victoria, Barrero, Francisco Javier, Yarza, Jesús Alberto Bergareche, Bernal-Bernal, Inmaculada, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A, Boungiorno, María Teresa, Buiza-Rueda, Dolores, Cámara, Ana, Diez-Fairen, Monica, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, de la Casa, Beatríz, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubé, Garcia, Ciara, García-Ruiz, Pedro, Heredia, Maria Jose Gomez, Gonzalez-Aramburu, Isabel, Sabir, Marya S, Tartari, Juan Pablo, Pagola, Ana Gorostidi, Hoenicka, Janet, Infante, Jon, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Lopez-Sendon, Jose Luis, Arregui, Adolfo López de Munain, Buongiorno, Mariateresa, Torres, Irene Martínez, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, González, Manuel Menéndez, Mata, Marina, Mínguez, Adolfo, Mir, Pablo, Rezola, Elisabet Mondragon, Pagonabarraga, Javier, Pascual-Sedano, Berta, Pastor, Pau, Errazquin, Francisco Perez, Ruiz-Martínez, Javier, Ruz, Clara, Rodriguez, Antonio Sanchez, Sierra, María, Suarez-Sanmartin, Esther, Gorostidi, Ana, Tabernero, Cesar, Tolosa, Eduard, Valldeoriola, Francesc, Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, Lasse, Bergareche, Jesús Alberto, Toft, Mathias, Koks, Sulev, Taba, Pille, Hassin-Baer, Sharon, Dalgard, Clifton L, Adeleye, Adelani, Soltis, Anthony R, Alba, Camille, Viollet, Coralie, Bacikova, Dagmar, Mondragon, Elisabet, Hupalo, Daniel N, Sukumar, Gauthaman, Pollard, Harvey B, Wilkerson, Matthew D, Martinez, Elisa McGrath, Vinagre-Aragon, Ana, Croitoru, Ioana, Marín-Lahoz, Juan, Fernández-Santiago, Rubén, Muñoz, Esteban, Sanchez Rodriguez, Antonio, Menéndez-González, Manuel, Suarez-San Martin, Esther, Vela-Desojo, Lydia, Mínguez-Castellanos, Adolfo, Gomez Heredia, Maria Jose, Perez Errazquin, Francisco, Romero-Acebal, Manolo, Martínez Torres, Irene, Kim, Jonggeol Jeffrey, Center, American Genome, Brooks, Janet, Saez-Atienzar, Sara, Jorda, Rafael, Botia, Juan A, Bonet-Ponce, Luis, Clarke, Carl, Morris, Huw, Edsall, Connor, Hernandez, Dena, Simon Sanchez, Javier, Marti, Maria José, López de Munain, Adolfo, Singleton, Andrew, Consortium, International Parkinson Disease Genomics, Noyce, Alastair J, Kaiyrzhanov, Rauan, Middlehurst, Ben
المساهمون: National Institutes of Health (US), Department of Defense (US), Michael J. Fox Foundation for Parkinson's Research, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), European Commission, Junta de Andalucía, Sociedad Andaluza de Neurología, Jacques and Gloria Gossweiler Foundation, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Universidad de Sevilla
المصدر: MOVEMENT DISORDERS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Mov Disord
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Movement disorders 34(12), 1851-1863 (2019). doi:10.1002/mds.27864
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Digital.CSIC. Repositorio Institucional del CSICمصطلحات موضوعية: 0301 basic medicine, Male, Multifactorial Inheritance, Parkinson's disease, age at onset, Machine Learning, 0302 clinical medicine, Cost of Illness, genetics [Parkinson Disease], Population specific, genetics [Genetic Predisposition to Disease], Age of Onset, genetics [Ubiquitin-Protein Ligases], Aged, 80 and over, Age at onset, Chromosome Mapping, Parkinson Disease, Middle Aged, Spanish population, humanities, Neurology, Christian ministry, Female, Adult, Genotype, Ubiquitin-Protein Ligases, Article, risk haplotype, 03 medical and health sciences, Risk score risk haplotype, Political science, polygenic risk score, Humans, Genetic Predisposition to Disease, ddc:610, Risk haplotype, Parkinson's disease, Spanish population, age at onset, polygenic risk score, risk haplotype, Aged, DNA Methylation, 030104 developmental biology, Haplotypes, Spain, Case-Control Studies, Polygenic risk score, Neurology (clinical), Polygenic, Humanities, 030217 neurology & neurosurgery, Genome-Wide Association Study
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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