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1دورية أكاديمية
المؤلفون: Virginia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, Clémence Labasse, Emmanuelle Lacène, Agnès Bourillon, Apolline Imbard, Jean-François Benoist, Imen Dorboz, Mylène Gilleron, Eric S Goetzman, Pauline Gaignard, Abdelhamid Slama, Monique Elmaleh-Bergès, Norma B Romero, Pierre Rustin, Hélène Ogier de Baulny, Joao A Paulo, J Wade Harper, Manuel Schiff
المصدر: eLife, Vol 5 (2016)
مصطلحات موضوعية: QIL1, MICOS, mitochondrial disease, early-onset fatal mitochondrial encephalopathy, 3-methylglutaconic aciduria, liver disease, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Virginia Guarani, Elizabeth M McNeill, Joao A Paulo, Edward L Huttlin, Florian Fröhlich, Steven P Gygi, David Van Vactor, J Wade Harper
المصدر: eLife, Vol 4 (2015)
مصطلحات موضوعية: mitochondria, proteomics, protein complex, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Fana Gebreab, Pietro De Camilli, J. Wade Harper, Edward L. Huttlin, Bo Zhai, Spyros Artavanis-Tsakonas, Rui Dong, Deepak Kolippakkam, Ramin Rad, Lily Ting, Kurt Baltier, Mathew E. Sowa, Stanley Tam, Melanie P. Gygi, Raphael J. Bruckner, Greg Colby, Martin Wühr, Joao A. Paulo, Joel M. Chick, Tim Harris, Laura Pontano Vaites, Gabriela Zarraga, Robert A. Obar, John Szpyt, Julian Mintseris, Brian K. Erickson, Alban Ordureau, Steven P. Gygi, Virginia Guarani
المصدر: Cell. 162(2):425-440
مصطلحات موضوعية: Proteomics, Biochemistry, Genetics and Molecular Biology(all), Amyotrophic Lateral Sclerosis, Protein domain, Proteins, Computational biology, VAPB, Biology, Bioinformatics, Article, Mass Spectrometry, General Biochemistry, Genetics and Molecular Biology, Protein–protein interaction, Human interactome, Membrane protein, Protein Interaction Mapping, Humans, Protein Interaction Maps, Cellular localization, Function (biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19b15ccd659015b80b07f9766aa0ec18Test
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المؤلفون: J. Wade Harper, Ben Pode-Shakked, Riccardo Berutti, Tobias B. Haack, Imen Dorboz, Edward L. Huttlin, Georg F. Hoffmann, Thomas Meissner, David Meili, Gerard Schwartz, Manuel Schiff, Limor Ziv-Strasser, Gali Heimer, May Christine V. Malicdan, Corinne Gemperle-Britschgi, Virginia Guarani, Jean-François Benoist, Aurora Martinez, William A. Gahl, Irene Keller, Thomas Meitinger, Yair Anikster, Nan Shen, Kirsten Cremer, Yuval Landau, Holger Prokisch, Ertan Mayatepek, Apolline Imbard, Tim M. Strom, Beat Thöny, Thierry Vilboux, James C. Mullikin, Bruria Ben-Zeev, Friedrich K. Trefz, Dina Marek-Yagel, Joao A. Paulo, Nenad Blau, Hartmut Engels, Thomas Opladen, Rémy Bruggmann
المساهمون: University of Zurich, Anikster, Yair
المصدر: Am. J. Hum. Genet. 100, 257-266 (2017)
مصطلحات موضوعية: 0301 basic medicine, Male, Phenylketonurias, Dopamine, Phenylalanine, Tryptophan Hydroxylase, 0302 clinical medicine, Hyperphenylalaninemia, Genetics(clinical), Tyrosine, Genetics (clinical), Tryptophan, Phenylalanine Hydroxylase, Tetrahydrobiopterin, Exons, Bh 4, Dnajc12, Dystonia, Neurotransmitter Deficiency, Newborn Screening, Phenylketonuria, 3. Good health, Pedigree, Female, medicine.drug, 2716 Genetics (clinical), medicine.medical_specialty, Serotonin, Phenylalanine hydroxylase, Tyrosine 3-Monooxygenase, 610 Medicine & health, Biology, Article, 03 medical and health sciences, 1311 Genetics, Internal medicine, Intellectual Disability, Genetics, medicine, Humans, HSP70 Heat-Shock Proteins, Amino Acid Sequence, Alleles, Tryptophan hydroxylase, Fibroblasts, medicine.disease, Biopterin, Repressor Proteins, 030104 developmental biology, Endocrinology, 10036 Medical Clinic, Inborn error of metabolism, Case-Control Studies, biology.protein, 030217 neurology & neurosurgery, Gene Deletion, Genome-Wide Association Study
وصف الملف: application/pdf; Zora.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::767ef5b3785befa55c37c0260d4cd4ceTest
https://pubmed.ncbi.nlm.nih.gov/28132689Test -
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المؤلفون: Emmanuelle Lacène, Mylène Gilleron, Manuel Schiff, Joao A. Paulo, Eric S. Goetzman, Virginia Guarani, Monique Elmaleh-Bergès, Hélène Ogier de Baulny, Anne Lombès, Clémence Labasse, J. Wade Harper, P. Rustin, Norma B. Romero, Apolline Imbard, Abdelhamid Slama, Pauline Gaignard, Dominique Chrétien, Agnès Bourillon, Paule Bénit, Jean-François Benoist, Imen Dorboz, Claude Jardel
المساهمون: Department of Cell Biology [Boston, MA, USA], Harvard Medical School [Boston] (HMS), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de biochimie-hormonologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Department of Pediatrics [Pittsburgh, USA], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE)-Children's Hospital of Pittsburgh of UPMC [Etats-Unis], Service de Biochimie [Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Service de Radiologie [AP-HP Hôpital Robert Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Reference Center for Inborn Errors of Metabolism [AP-HP Hôpital Robert Debré], Bos, Mireille, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC), Harvard Medical School - HMS [Boston, USA], Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Promoting Research Oriented Towards Early Cns Therapies ( PROTECT ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Association française contre les myopathies ( AFM-Téléthon ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 ), University of Pittsburgh School of Medicine [USA]-Children's Hospital of Pittsburgh of UPMC [Etats-Unis], Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre
المصدر: eLife, Vol 5 (2016)
eLife
eLife, 2016, ⟨10.7554/eLife.17163⟩
eLife, eLife Sciences Publication, 2016, ⟨10.7554/eLife.17163⟩
eLife, eLife Sciences Publication, 2016, 〈10.7554/eLife.17163〉مصطلحات موضوعية: 0301 basic medicine, Male, Respiratory chain, Biology (General), Genetics, MICOS complex, biology, General Neuroscience, Liver Diseases, General Medicine, Null allele, Cell biology, MICOS, mitochondrial disease, Medicine, Female, 3-methylglutaconic aciduria, liver disease, Human, QH301-705.5, Mitochondrial disease, Protein subunit, Science, Microbial Sensitivity Tests, General Biochemistry, Genetics and Molecular Biology, Mitochondrial Proteins, 03 medical and health sciences, Mitochondrial Encephalomyopathies, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Cytochrome c oxidase, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Human Biology and Medicine, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, General Immunology and Microbiology, Siblings, Infant, Newborn, Membrane Proteins, Cell Biology, medicine.disease, QIL1, 030104 developmental biology, Mutation, biology.protein, early-onset fatal mitochondrial encephalopathy, Cristae formation, Research Advance
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17396ad1a15d3186381f7250deb58b00Test
https://elifesciences.org/articles/17163Test -
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المؤلفون: Clémence Labasse, J. Wade Harper, Anne Lombès, Jean-François Benoist, Mylène Gilleron, Monique Elmaleh-Bergès, Emmanuelle Lacène, Hélène Ogier de Baulny, Eric S. Goetzman, P. Rustin, Manuel Schiff, Joao A. Paulo, Norma B. Romero, Paule Bénit, Abdelhamid Slama, Dominique Chrétien, Agnès Bourillon, Virginia Guarani, Imen Dorboz, Pauline Gaignard, Claude Jardel, Apolline Imbard
مصطلحات موضوعية: Liver disease, business.industry, Mutation (genetic algorithm), Immunology, medicine, Mitochondrial encephalopathy, medicine.disease, business, Early onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6972e8a8cc23348390c1fd1136dff586Test
https://doi.org/10.7554/elife.17163.012Test -
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المؤلفون: J. Wade Harper, Steven P. Gygi, Edward L. Huttlin, Malavika Raman, Mathew E. Sowa, Shireen A. Sarraf, Virginia Guarani-Pereira
المصدر: Nature
مصطلحات موضوعية: Proteomics, Proteome, Ubiquitin-Protein Ligases, Mitochondrial Degradation, PINK1, Mitochondrion, Biology, Parkin, Article, Cell Line, Mitochondrial Proteins, 03 medical and health sciences, Mice, 0302 clinical medicine, Mitophagy, Animals, Drosophila Proteins, Humans, 030304 developmental biology, Genetics, Membrane Potential, Mitochondrial, 0303 health sciences, Multidisciplinary, Ubiquitination, Ubiquitin ligase, Cell biology, nervous system diseases, Mitochondria, Drosophila melanogaster, Proteasome, Mitochondrial Membranes, biology.protein, Protein Kinases, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e56af7d57b492796542c3528b4cf4a41Test
http://europepmc.org/articles/PMC3641819Test -
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المؤلفون: Holger Gerhardt, Thomas Braun, Katie Bentley, Li-Kun Phng, Raul Mostoslavsky, Mirko H. H. Schmidt, Michael Potente, Ralf P. Brandes, Marcus Krüger, Gianluca Deflorian, Franck Dequiedt, Louise Toussaint, Virginia Guarani, Andreas M. Zeiher, Claudio A. Franco, Marina Mione, Barbara Zimmermann, Stefanie Dimmeler, Christoph H. Westphal
المصدر: Nature. 473:234-238
مصطلحات موضوعية: Regulation of gene expression, 0303 health sciences, Multidisciplinary, Sirtuin 1, HEK 293 cells, Notch signaling pathway, Biology, Cell biology, Endothelial stem cell, 03 medical and health sciences, 0302 clinical medicine, Notch proteins, 030220 oncology & carcinogenesis, biology.protein, Gene silencing, Signal transduction, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c7147c3756185b0f99c4772f002ad36eTest
https://doi.org/10.1038/nature09917Test -
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المؤلفون: Jes Niels Boeckel, Tino Roexe, Pascal Gellert, Virginia Guarani, Thomas Braun, Masamichi Koyanagi, Stefanie Dimmeler, Ralph T. Schermuly, Andreas Lengeling, Andreas M. Zeiher
المصدر: Proceedings of the National Academy of Sciences. 108:3276-3281
مصطلحات موضوعية: Vascular Endothelial Growth Factor A, Placental growth factor, Jumonji Domain-Containing Histone Demethylases, Angiogenesis, RNA Splicing, Neovascularization, Physiologic, Pregnancy Proteins, Gene expression, Histone methylation, Humans, Gene silencing, Gene Silencing, Cells, Cultured, Placenta Growth Factor, Messenger RNA, Vascular Endothelial Growth Factor Receptor-1, Multidisciplinary, biology, Biological Sciences, Gene Expression Regulation, RNA splicing, biology.protein, Cancer research, Endothelium, Vascular, Antibody, Protein Processing, Post-Translational
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2337dbad66c67ed957634f1e08c9049Test
https://doi.org/10.1073/pnas.1008098108Test -
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المؤلفون: David Van Vactor, Virginia Guarani, Steven P. Gygi, Florian Fröhlich, Edward L. Huttlin, Elizabeth M. McNeill, J. Wade Harper, Joao A. Paulo
مصطلحات موضوعية: MICOS complex, Chemistry, Morphology (biology), Mitochondrial protein, Cell biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::440741196e12814bb6a0da1b45d68528Test
https://doi.org/10.7554/elife.06265.015Test