المؤلفون: Sébastien Küry, Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard, Tiphaine Hery, Mathilde Nizon, Grazia M.S. Mancini, Jacques C. Giltay, Benjamin Cogné, Kirsty McWalter, Wallid Deb, Hagar Mor-Shaked, Hong Li, Rhonda E. Schnur, Ingrid M. Wentzensen, Anne-Sophie Denommé-Pichon, Cynthia Fourgeux, Frans W. Verheijen, Eva Faurie, Rachel Schot, Cathy A. Stevens, Daphne J. Smits, Eileen Barr, Ruth Sheffer, Jonathan A. Bernstein, Chandler L. Stimach, Eliana Kovitch, Vandana Shashi, Kelly Schoch, Whitney Smith, Richard H. van Jaarsveld, Anna C.E. Hurst, Kirstin Smith, Evan H. Baugh, Suzanne G. Bohm, Emílie Vyhnálková, Lukáš Ryba, Capucine Delnatte, Juanita Neira, Dominique Bonneau, Annick Toutain, Jill A. Rosenfeld, Séverine Audebert-Bellanger, Brigitte Gilbert-Dussardier, Sylvie Odent, Frédéric Laumonnier, Seth I. Berger, Ann C.M. Smith, Franck Bourdeaut, Marc-Henri Stern, Richard Redon, Elke Krüger, Raphaël Margueron, Stéphane Bézieau, Jeremie Poschmann, Bertrand Isidor

المساهمون: Centre hospitalier universitaire de Nantes (CHU Nantes), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Universität Greifswald - University of Greifswald, Centre de Recherche en Transplantation et Immunologie - Center for Research in Transplantation and Translational Immunology (U1064 Inserm - CR2TI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Génétique et Biologie du Développement, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Erasmus University Medical Center [Rotterdam] (Erasmus MC), University Medical Center [Utrecht], GeneDx [Gaithersburg, MD, USA], Hadassah Hebrew University Medical Center [Jerusalem], Emory University School of Medicine, Emory University [Atlanta, GA], Laboratoire de Biologie Neurovasculaire Intégrée [Angers] (CNRS UMR6214 - INSERM U771), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers, MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Tennessee System, Stanford University, Duke University Medical Center, University of Alabama at Birmingham [ Birmingham] (UAB), Columbia University [New York], Charles University [Prague] (CU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Baylor College of Medicine (BCM), Baylor University, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Unité neurovasculaire et troubles cognitifs (Neuvacod), Université de Poitiers, CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre de référence Maladies Rares CLAD-Ouest [Rennes], Children's National Medical Center, National Human Genome Research Institute (NHGRI), Institut Curie [Paris], Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Greifswald University Hospital, Research reported in this manuscript was supported by the NIH Common Fund through the Office of Strategic Coordination/Office of the NIH Director under award number U01HG007672 to V.S. Further support was obtained by funding from the German Research Foundation (SFBTR 167 A4, GRK2719 B4) to E.K, Clinical Genetics

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2022, 109 (2), pp.361-372. ⟨10.1016/j.ajhg.2021.12.011⟩
American Journal of Human Genetics, 109(2), 361-372. Cell Press
Am J Hum Genet

مصطلحات موضوعية: Male, Heterozygote, Proteasome Endopeptidase Complex, tumor, Adolescent, T-Lymphocytes, Ubiquitin-Protein Ligases, [SDV]Life Sciences [q-bio], Mutation, Missense, UPS, ubiquitin-proteasome system, chromatin remodeling, Histones, SDG 3 - Good Health and Well-being, Loss of Function Mutation, Report, ubiquitin, Genetics, Humans, cancer, Family, BAP1, Child, deubiquitination, Germ-Line Mutation, Genetics (clinical), [SDV.GEN]Life Sciences [q-bio]/Genetics, neurodevelopment, BRCA1 Protein, Tumor Suppressor Proteins, Ubiquitination, Infant, Chromatin Assembly and Disassembly, BRCA1, Chromatin, Gene Expression Regulation, Neurodevelopmental Disorders, intellectual disability, Child, Preschool, histone 2A, Female, Host Cell Factor C1, Ubiquitin Thiolesterase

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30291939060519e6db8780d53aed2befTest
https://doi.org/10.1016/j.ajhg.2021.12.011Test

المؤلفون: Yong Tae Kwon, Ah Jung Heo, Jill A. Rosenfeld, Eliane Beauregard-Lacroix, Carlos A. Bacino, Philippe M. Campeau, Maren Wenzel, Valentina Stanley, Hamad Al Deiab, Michel R. Leroux, Christine Kondratev, Justine Rousseau, Katherine Neas, Brett H. Graham, Matias Wagner, Chunmei Li, Fuad Al Mutairi, Joseph G. Gleeson, Maha S. Zaki

المصدر: Am. J. Hum. Genet. 108, 134-147 (2021)
Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Proteasome Endopeptidase Complex, Hearing Loss, Sensorineural, Ubiquitin-Protein Ligases, Notch signaling pathway, Nose, medicine.disease_cause, Article, Germline, Epigenetic, Epilepsy, Hypothyroidism, Kat6b, Notch, Ptosis, Ubr-5, Ubr-7, Ubr5, Ubr7, Cell Line, Anus, Imperforate, Histones, Mice, 03 medical and health sciences, 0302 clinical medicine, Ubiquitin, Ectodermal Dysplasia, Intellectual Disability, Genetics, medicine, Animals, Humans, Epigenetics, Caenorhabditis elegans, Growth Disorders, Genetics (clinical), Mutation, Receptors, Notch, biology, Pancreatic Diseases, medicine.disease, Phenotype, Cell biology, HEK293 Cells, 030104 developmental biology, Histone, Neurodevelopmental Disorders, biology.protein, 030217 neurology & neurosurgery, Signal Transduction

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::435234a9be27dd031106b25bcf587d02Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60979Test

المؤلفون: Lucas V. Cairo, Carmen Ruger-Herreros, Axel Mogk, Stefan Jentsch, Bernd Bukau, Fabian den Brave, Chandhuru Jagadeesan

المصدر: Cell Reports
Cell Reports, Vol 31, Iss 9, Pp-(2020)
CELL REPORTS

مصطلحات موضوعية: 0301 basic medicine, Proteasome Endopeptidase Complex, Protein Folding, Saccharomyces cerevisiae Proteins, Chaperone, Saccharomyces cerevisiae, Protein aggregation, Protein degradation, General Biochemistry, Genetics and Molecular Biology, Article, Hsp70, 03 medical and health sciences, Protein Aggregates, 0302 clinical medicine, Disaggregation, HSP70 Heat-Shock Proteins, Nuclear protein, HSP110 Heat-Shock Proteins, lcsh:QH301-705.5, Heat-Shock Proteins, Hsp40, biology, Chemistry, nucleus, Hsp110, Nuclear Proteins, HSP40 Heat-Shock Proteins, Apj1, Cell biology, Cytosol, 030104 developmental biology, Proteostasis, Proteasome, lcsh:Biology (General), Cytoplasm, Chaperone (protein), Proteolysis, biology.protein, protein degradation, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dc90f3b38e8a50304ed2b633e182a5bTest
http://europepmc.org/articles/PMC7273177Test

المؤلفون: Federica Castellucci, Ivan Psakhye, Dana Branzei

المصدر: Molecular Cell

مصطلحات موضوعية: DNA Replication, Proteasome Endopeptidase Complex, Saccharomyces cerevisiae Proteins, Time Factors, DNA replication initiation, Cdc48 segregase, protein-group modification, Ubiquitin-Protein Ligases, Mutant, genetic processes, DDK, Cell Cycle Proteins, Replication Origin, macromolecular substances, Slx5/8, Saccharomyces cerevisiae, Protein Serine-Threonine Kinases, Origin of replication, environment and public health, Article, 03 medical and health sciences, 0302 clinical medicine, Ubiquitin, Minichromosome maintenance, Valosin Containing Protein, Gene Expression Regulation, Fungal, ubiquitin, Endopeptidases, DNA, Fungal, Molecular Biology, 030304 developmental biology, 0303 health sciences, biology, DNA replication, Sumoylation, Cell Biology, SUMO chains, STUbL-mediated proteasomal degradation, Ubiquitin ligase, Chromatin, Cell biology, enzymes and coenzymes (carbohydrates), SUMO, SENP/Ulp proteases, Mutation, biology.protein, health occupations, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4710c5e4bad4634dcb2d04efa69a43d6Test
http://europepmc.org/articles/PMC6891891Test

المؤلفون: Joerg Martin, Lorena Maldoner, Marcus D. Hartmann, Reinhard Albrecht, Vikram Alva, Adrian C. D. Fuchs

المصدر: Structure(London, England:1993)

مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Proteases, Proteasome Endopeptidase Complex, Protein Conformation, medicine.medical_treatment, Computational biology, Crystallography, X-Ray, Article, Evolution, Molecular, 03 medical and health sciences, Protein sequencing, Bacterial Proteins, X-Ray Diffraction, Structural Biology, Catalytic Domain, Hydrolase, Scattering, Small Angle, medicine, Anbu, Cloning, Molecular, protein evolution, Molecular Biology, Protease, 030102 biochemistry & molecular biology, biology, Small-angle X-ray scattering, SAXS, biology.organism_classification, Crystallography, 030104 developmental biology, proteasome, Proteasome, Protein Multimerization, Function (biology), Archaea

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78d48e54bd825ee5f6e14e1f395dee20Test
http://europepmc.org/articles/PMC5666114Test

المؤلفون: José Ramón López-Blanco, Andreas Martin, Pablo Chacón, Eric Estrin

المساهمون: Comunidad de Madrid, Human Frontier Science Program

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)

مصطلحات موضوعية: Models, Molecular, Proteasome Endopeptidase Complex, Protein Folding, Saccharomyces cerevisiae Proteins, Protein subunit, Molecular Sequence Data, Saccharomyces cerevisiae, Plasma protein binding, Biology, Protein Structure, Secondary, 03 medical and health sciences, 0302 clinical medicine, Structural Biology, Amino Acid Sequence, COP9 signalosome, Protein Structure, Quaternary, Molecular Biology, 030304 developmental biology, 0303 health sciences, COP9 Signalosome Complex, C-terminus, Helical bundle, Structural framework, Protein Structure, Tertiary, Protein Subunits, Crystallography, Proteasome, Multiprotein Complexes, Bundle, Biophysics, Protein Multimerization, 030217 neurology & neurosurgery, Peptide Hydrolases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01b52d82bf353d3117c7703461bb5717Test
http://hdl.handle.net/10261/248592Test

المؤلفون: Zeng, X., Sigoillot, F., Gaur, S., Choi, S., Pfaff, K.L., Oh, D.-C., Hathaway, N., Dimova, N., Cuny, G.D., King, R.W.

المصدر: Cancer Cell, 18(4)

مصطلحات موضوعية: Spindle Apparatus, Tosylarginine Methyl Ester, Microtubules, Anaphase-Promoting Complex-Cyclosome, Protein Binding, Enzyme Inhibitors, Xenopus, Ubiquitin-Protein Ligase Complexes, Mutant Proteins, Humans, Proteasome Inhibitors, Metaphase, Enzyme Activation, Mitosis, Proteasome Endopeptidase Complex, HeLa Cells, Protein Biosynthesis, Animals, Prodrugs

العلاقة: https://doi.org/10.17615/yewq-yv89Test; https://cdr.lib.unc.edu/downloads/dr26z692r?file=thumbnailTest; https://cdr.lib.unc.edu/downloads/dr26z692rTest

الإتاحة: https://doi.org/10.17615/yewq-yv89Test
https://cdr.lib.unc.edu/downloads/dr26z692r?file=thumbnailTest
https://cdr.lib.unc.edu/downloads/dr26z692rTest

المؤلفون: Lassot, Irina, Latreille, Daniel, Rousset, Emilie, Sourisseau, Marion, Linares, Laetitia, Chable-Bessia, Christine, Coux, Olivier, Benkirane, Monsef, Kiernan, Rosemary

المساهمون: Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre de recherches de biochimie macromoléculaire (CRBM), Université Montpellier 1 (UM1)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 1097-2765.

مصطلحات موضوعية: MESH: Adaptor Proteins, Signal Transducing, MESH: Carrier Proteins, MESH: Promoter Regions, Genetic, MESH: Proteasome Endopeptidase Complex, MESH: Transcription, MESH: tat Gene Products, Human Immunodeficiency Virus, MESH: Gene Expression Regulation, Viral, MESH: Gene Products, tat, MESH: HIV Long Terminal Repeat, MESH: HIV-1, MESH: HeLa Cells, MESH: Humans, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/17289585; hal-04171487; https://hal.inrae.fr/hal-04171487Test; PUBMED: 17289585

الإتاحة: https://doi.org/10.1016/j.molcel.2006.12.020Test
https://hal.inrae.fr/hal-04171487Test

المؤلفون: R. Jürgen Dohmen, Paula C. Ramos

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: Models, Molecular, Proteasome Endopeptidase Complex, Protein subunit, Proteolysis, Models, Biological, Evolution, Molecular, Subunit Composition, Structural Biology, Catalytic Domain, β subunit, Maturation, medicine, Animals, Humans, Endoplasmic-Reticulum, Molecular Biology, Antigen Presentation, Crystal-Structure, biology, medicine.diagnostic_test, Protein, Core Particle, Yeast, Mammalian 20S Proteasomes, Protein Subunits, Biochemistry, Proteasome, Chaperone (protein), Proteasome assembly, Multiprotein Complexes, Active-Site Formation, biology.protein, Biophysics, S-Proteasome, Dimerization, Molecular Chaperones, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82f88c490c6c190fb1f9beca5c6a112dTest
https://hdl.handle.net/10400.1/11938Test

المؤلفون: Yoeli-Lerner, Merav, Yiu, Gary K., Rabinovitz, Isaac, Erhardt, Peter, Jauliac, Sébastien, Toker, Alex

المساهمون: Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston Biomedical Research Institute, NFAT Transcription Factors and Cancer, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), INSERM AVENIR, NIH

المصدر: ISSN: 1097-2765.

مصطلحات موضوعية: MESH: Animals, MESH: Breast Neoplasms, MESH: Neoplasm Invasiveness, MESH: Proteasome Endopeptidase Complex, MESH: Proto-Oncogene Proteins c-akt, MESH: Proto-Oncoge, MESH: Cell Line, Tumor, MESH: Cell Migration Inhibition, MESH: Cell Movement, MESH: Female, MESH: Humans, MESH: Mice, MESH: NFATC Transcription Factors, MESH: NIH 3T3 Cells, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.CAN]Life Sciences [q-bio]/Cancer

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16307918; inserm-00000020; https://www.hal.inserm.fr/inserm-00000020Test; https://www.hal.inserm.fr/inserm-00000020/documentTest; https://www.hal.inserm.fr/inserm-00000020/file/article.pdf.pdfTest; PUBMED: 16307918

الإتاحة: https://doi.org/10.1016/j.molcel.2005.10.033Test
https://www.hal.inserm.fr/inserm-00000020Test
https://www.hal.inserm.fr/inserm-00000020/documentTest
https://www.hal.inserm.fr/inserm-00000020/file/article.pdf.pdfTest