المؤلفون: Alkmini A, Papadopoulou, Walter, Stelzer, Mara, Silber, Christine, Schlosser, Charlotte, Spitz, Martina, Haug-Kröper, Tobias, Straub, Stephan A, Müller, Stefan F, Lichtenthaler, Claudia, Muhle-Goll, Dieter, Langosch, Regina, Fluhrer

المصدر: Scientific Reports, 12 (1), Art.-Nr.: 20987
Scientific reports 12(1), 20987 (2022). doi:10.1038/s41598-022-24772-8

مصطلحات موضوعية: Glycosylation, Multidisciplinary, Chemistry & allied sciences, Golgi Apparatus, Membrane Proteins, Proteases, metabolism [Aspartic Acid Endopeptidases], metabolism [Polysaccharides], Biochemistry, metabolism [Golgi Apparatus], genetics [Membrane Proteins], Polysaccharides, Biophysical chemistry, ddc:540, Proteolysis, Aspartic Acid Endopeptidases, Protein folding, ddc:610, ddc:600, metabolism [Membrane Proteins]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d045c596e352ffd9b2b25e9120ca7b91Test
https://doi.org/10.1038/s41598-022-24772-8Test

المؤلفون: Georg Jocher, Vincent Grass, Sarah K Tschirner, Lydia Riepler, Stephan Breimann, Tuğberk Kaya, Madlen Oelsner, M Sabri Hamad, Laura I Hofmann, Carl P Blobel, Carsten B Schmidt‐Weber, Ozgun Gokce, Constanze A Jakwerth, Jakob Trimpert, Janine Kimpel, Andreas Pichlmair, Stefan F Lichtenthaler

المصدر: EMBO Rep. 23:e54305 (2022)
EMBO reports 23(6), e54305 (2022). doi:10.15252/embr.202154305

مصطلحات موضوعية: EMBO23, EMBO24, EMBO31, Article, Articles, A549, apratastat, DPC-333, ectodomain shedding, syncytia formation, genetics [Amyloid Precursor Protein Secretases], ADAM17 Protein, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::616 Krankheiten, genetics [Spike Glycoprotein, Coronavirus], Biochemistry, Cell Fusion, DPC‐333, ADAM10 Protein, genetics [ADAM10 Protein], ddc:570, Genetics, Humans, Lung, Molecular Biology, SARS-CoV-2, Apratastat, Dpc-333, Ectodomain Shedding, Syncytia Formation, Membrane Proteins, COVID-19, Virus Internalization, ddc, genetics [Membrane Proteins], metabolism [Spike Glycoprotein, Coronavirus], Spike Glycoprotein, Coronavirus, Metalloproteases, Angiotensin-Converting Enzyme 2, Amyloid Precursor Protein Secretases, metabolism [Membrane Proteins]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fa416da9c2b0eb78067136b09f89a20Test
https://doi.org/10.15252/embr.202154305Test

المؤلفون: Genin, Emmanuelle, C, Bannwarth, Sylvie, Ropert, Baptiste, Lespinasse, Françoise, Mauri-Crouzet, Alessandra, Augé, Gaelle, Fragaki, Konstantina, Cochaud, Charlotte, Donnarumma, Erminia, Lacas-Gervais, Sandra, Wai, Timothy, Paquis-Flucklinger, Véronique

المساهمون: Institut de Recherche sur le Cancer et le Vieillissement (IRCAN), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UniCA), G5 Biologie mitochondriale – Mitochondrial biology, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Centre Commun de Microscopie Appliquée (CCMA), Université de Nice Sophia-Antipolis (UNSA), This work was made possible by grants to V.P.-F. from the ANR (Agence Nationale de la Recherche) ANR-16-CE16-0024-01 and from the FRM (Fondation pour la Recherche Médicale) FRM: MND202004011475., We acknowledge Thibault Léger and the Proteomics facility of the Institut Jacques Monod, University of Paris Cité for mass spectrometry analysis. We also thank Christelle Boscagli for technical help. We gratefully acknowledge the IRCAN’s Molecular and Cellular Core Imaging (PICMI) facility, supported financially by FEDER, Conseil régional Provence Alpes-Côte d’Azur, Conseil Départemental 06, Cancéropôle PACA, Gis Ibisa and Inserm, the IRCAN’s Animal core facility, supported by FEDER, Région Provence Alpes-Côte d’Azur, Conseil Départemental 06 and Inserm, the IRCAN’s Histology core facility, supported by Région Provence Alpes-Côte d’Azur, Cancéropôle PACA and Université Côte d’Azur and, the University’s CCMA Electron Microscopy facility supported by Université Côte d’Azur, Région Provence Alpes-Côte d’Azur, Conseil Départemental 06 and Gis Ibisa, ANR-16-CE16-0024,MicroGol,Implication des fonctions sécrétoires de l'appareil de Golgi dans le développement des microcéphalies postnatales avec déficit intellectuel(2016)

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: amyotrophic lateral sclerosis, frontotemporal dementia, motor neuron disease, mitochondrion, ALS = amyotrophic lateral sclerosis, FTD = frontotemporal dementia, IMM = inner mitochondrial membrane, MICOS = mitochondrial contact site and cristae organizing system, MN = motor neuron, PHB = prohibitin, PLA = proximity ligation assay, RC = respiratory chain, MESH: Amyotrophic Lateral Sclerosis* / genetics Amyotrophic Lateral Sclerosis* / metabolism Animals Frontotemporal Dementia* / genetics Humans Membrane Proteins* / genetics Membrane Proteins* / metabolism Mice Mitochondria / metabolism Mitochondrial Proteins* / genetics Mitochondrial Proteins* / metabolism Motor Neurons / metabolism Prohibitins Transcription Factors / genetics, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35656794; pasteur-03853884; https://pasteur.hal.science/pasteur-03853884Test; PUBMED: 35656794

الإتاحة: https://doi.org/10.1093/brain/awac197Test
https://pasteur.hal.science/pasteur-03853884Test

المؤلفون: Markus Zweckstetter, King Faisal Yambire, Niels Denkert, Claudia Steinem, Nelli Teske, Daryna Tarasenko, Michael Meinecke, Ira Milosevic, Indrani Mukherjee, Garima Jaipuria, Benjamin Kroppen

المصدر: Cellular and Molecular Life Sciences
Cellular and molecular life sciences 78(5), 2355-2370 (2021). doi:10.1007/s00018-020-03647-z

مصطلحات موضوعية: Phosphatidylinositol 4,5-Diphosphate, ENTH domain, Epsin, Reconstitution of membrane dynamics, 0302 clinical medicine, epsin, metabolism [Phosphatidylinositol 4,5-Diphosphate], 0303 health sciences, Chemistry, ultrastructure [Cell Membrane], metabolism [Clathrin], metabolism [Membrane Lipids], Endocytosis, Clathrin-mediated endocytosis, genetics [Membrane Proteins], Protein Transport, Membrane, Membrane curvature, Molecular Medicine, Original Article, genetics [Adaptor Proteins, Vesicular Transport], metabolism [Adaptor Proteins, Vesicular Transport], Protein Binding, genetics [Binding Sites], chemistry [Cell Membrane], metabolism [Cell Membrane], Protein–protein interaction, Membrane Lipids, 03 medical and health sciences, Cellular and Molecular Neuroscience, Protein Domains, chemistry [Adaptor Proteins, Vesicular Transport], Humans, chemistry [Membrane Proteins], ddc:610, Membrane dynamics, Molecular Biology, 030304 developmental biology, Pharmacology, Binding Sites, Cell Membrane, Membrane Proteins, Cell Biology, Receptor-mediated endocytosis, chemistry [Membrane Lipids], Clathrin, Microscopy, Electron, Adaptor Proteins, Vesicular Transport, Membrane protein, Mutation, Biophysics, metabolism [Membrane Proteins], 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::299604b0231580d1487db82e8f61580bTest
https://doi.org/10.1007/s00018-020-03647-zTest

المؤلفون: Schlosser, Pascal, Tin, Adrienne, Matias-Garcia, Pamela R., Thio, Chris H. L., Joehanes, Roby, Liu, Hongbo, Weihs, Antoine, Yu, Zhi, Hoppmann, Anselm, Grundner-Culemann, Franziska, Min, Josine L., Adeyemo, Adebowale A., Agyemang, Charles, Ärnlöv, Johan, Aziz, Nasir A., Baccarelli, Andrea, Bochud, Murielle, Brenner, Hermann, Breteler, Monique M. B., Carmeli, Cristian, Chaker, Layal, Chambers, John C., Cole, Shelley A., Coresh, Josef, Corre, Tanguy, Correa, Adolfo, Cox, Simon R., de Klein, Niek, Delgado, Graciela E., Domingo-Relloso, Arce, Eckardt, Kai-Uwe, Ekici, Arif B., Endlich, Karlhans, Evans, Kathryn L., Floyd, James S., Fornage, Myriam, Franke, Lude, Fraszczyk, Eliza, Gao, Xu, Gào, Xīn, Ghanbari, Mohsen, Ghasemi, Sahar, Gieger, Christian, Greenland, Philip, Grove, Megan L., Harris, Sarah E., Hemani, Gibran, Henneman, Peter, Herder, Christian, Horvath, Steve, Hou, Lifang, Hurme, Mikko A., Hwang, Shih-Jen, Jarvelin, Marjo-Riitta, Kardia, Sharon L. R., Kasela, Silva, Kleber, Marcus E., Koenig, Wolfgang, Kooner, Jaspal S., Kramer, Holly, Kronenberg, Florian, Kühnel, Brigitte, Lehtimäki, Terho, Lind, Lars, Liu, Dan, Liu, Yongmei, Lloyd-Jones, Donald M., Lohman, Kurt, Lorkowski, Stefan, Lu, Ake T., Marioni, Riccardo E., März, Winfried, McCartney, Daniel L., Meeks, Karlijn A. C., Milani, Lili, Mishra, Pashupati P., Nauck, Matthias, Navas-Acien, Ana, Nowak, Christoph, Peters, Annette, Prokisch, Holger, Psaty, Bruce M., Raitakari, Olli T., Ratliff, Scott M., Reiner, Alex P., Rosas, Sylvia E., Schöttker, Ben, Schwartz, Joel, Sedaghat, Sanaz, Smith, Jennifer A., Sotoodehnia, Nona, Stocker, Hannah R., Stringhini, Silvia, Sundström, Johan, Swenson, Brenton R., Tellez-Plaza, Maria, van Meurs, Joyce B. J., van Vliet-Ostaptchouk, Jana V., Venema, Andrea, Verweij, Niek, Walker, Rosie M., Wielscher, Matthias, Winkelmann, Juliane, Wolffenbuttel, Bruce H. R., Zhao, Wei, Zheng, Yinan, Esko, Tõnu, Metspalu, Andres, Mägi, Reedik, Nelis, Mari, Loh, Marie, Snieder, Harold, Levy, Daniel, Waldenberger, Melanie, Susztak, Katalin, Köttgen, Anna, Teumer, Alexander

المساهمون: Public and occupational health, APH - Personalized Medicine, APH - Global Health, Human Genetics, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, ACS - Diabetes & metabolism, ACS - Atherosclerosis & ischemic syndromes, Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Center for Liver, Digestive and Metabolic Diseases (CLDM), Life Course Epidemiology (LCE), Tampere University, BioMediTech, Department of Clinical Chemistry, Clinical Medicine, Estonian Biobank Research Team, Genetics of DNA Methylation Consortium, Milani, L., Clinical Genetics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development, Epidemiology, Internal Medicine, Lee Kong Chian School of Medicine (LKCMedicine)

المصدر: Nature communications, 12(1):7174. Nature Publishing Group
Nature Communications, 12:7174. Nature Publishing Group
Nature communications, vol. 12, no. 1, pp. 7174
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Repisalud
Instituto de Salud Carlos III (ISCIII)
Nature Communications
Nat. Commun. 12:7174 (2021)
Nature Communications, 12(1):7174. Nature Publishing Group
et al. 2021, ' Meta-analyses identify DNA methylation associated with kidney function and damage ', Nature Communications, vol. 12, 7174 (2021) . https://doi.org/10.1038/s41467-021-27234-3Test
Schlosser, P, Tin, A, Matias-garcia, P R, Thio, C H L, Joehanes, R, Liu, H, Weihs, A, Yu, Z, Hoppmann, A, Grundner-culemann, F, Min, J L, Adeyemo, A A, Agyemang, C, Ärnlöv, J, Aziz, N A, Baccarelli, A, Bochud, M, Brenner, H, Breteler, M M B, Carmeli, C, Chaker, L, Chambers, J C, Cole, S A, Coresh, J, Corre, T, Correa, A, Cox, S R, De Klein, N, Delgado, G E, Domingo-relloso, A, Eckardt, K, Ekici, A B, Endlich, K, Evans, K L, Floyd, J S, Fornage, M, Franke, L, Fraszczyk, E, Gao, X, Gào, X, Ghanbari, M, Ghasemi, S, Gieger, C, Greenland, P, Grove, M L, Harris, S E, Hemani, G, Henneman, P, Herder, C, Horvath, S, Hou, L, Hurme, M A, Hwang, S, Jarvelin, M, Kardia, S L R, Kasela, S, Kleber, M E, Koenig, W, Kooner, J S, Kramer, H, Kronenberg, F, Kühnel, B, Lehtimäki, T, Lind, L, Liu, D, Liu, Y, Lloyd-jones, D M, Lohman, K, Lorkowski, S, Lu, A T, Marioni, R E, März, W, Mccartney, D L, Meeks, K A C, Milani, L, Mishra, P P, Nauck, M, Navas-acien, A, Nowak, C, Peters, A, Prokisch, H, Psaty, B M, Raitakari, O T, Ratliff, S M, Reiner, A P, Rosas, S E, Schöttker, B, Schwartz, J, Sedaghat, S, Smith, J A, Sotoodehnia, N, Stocker, H R, Stringhini, S, Sundström, J, Swenson, B R, Tellez-plaza, M, Van Meurs, J B J, Van Vliet-ostaptchouk, J V, Venema, A, Verweij, N, Walker, R M, Wielscher, M, Winkelmann, J, Wolffenbuttel, B H R, Zhao, W, Zheng, Y, Milani, L, Loh, M, Snieder, H, Levy, D, Waldenberger, M, Susztak, K, Köttgen, A & Teumer, A 2021, ' Meta-analyses identify DNA methylation associated with kidney function and damage ', Nature Communications, vol. 12, no. 1, 7174 . https://doi.org/10.1038/s41467-021-27234-3Test
Nature Communications 12(1), 7174 (2021). doi:10.1038/s41467-021-27234-3

مصطلحات موضوعية: Male, Epidemiology, physiopathology [Renal Insufficiency, Chronic], General Physics and Astronomy, genetics [Renal Insufficiency, Chronic], Kidney, Kidney Function Tests, genetics [Interferon Regulatory Factors], Chronic kidney disease, Urologi och njurmedicin, metabolism [Transcription Factors], Cardiac and Cardiovascular Systems, Membrane Protein, DNA methylation, Kardiologi, Multidisciplinary, metabolism [LIM Domain Proteins], genetics [Transcription Factors], LIM Domain Proteins, Middle Aged, ddc, genetics [Membrane Proteins], Interferon Regulatory Factors, Female, ddc:500, Medical Genetics, Glomerular Filtration Rate, Adult, Science, Article, General Biochemistry, Genetics and Molecular Biology, SDG 3 - Good Health and Well-being, metabolism [Renal Insufficiency, Chronic], Humans, Urology and Nephrology, physiopathology [Kidney], Medicine [Science], Renal Insufficiency, Chronic, Interferon Regulatory Factor, Medicinsk genetik, Aged, metabolism [Interferon Regulatory Factors], urogenital system, metabolism [Kidney], Membrane Proteins, General Chemistry, Translational research, 1182 Biochemistry, cell and molecular biology, CpG Islands, 3111 Biomedicine, genetics [LIM Domain Proteins], metabolism [Membrane Proteins], Transcription Factors

وصف الملف: application/pdf; fulltext

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a666ac8780ee854739b2d4005651ff27Test
https://pure.amc.nl/en/publications/metaanalyses-identify-dna-methylation-associated-with-kidney-function-and-damageTest(0b3d0490-c103-42d9-a83e-999de439d3e1).html

المؤلفون: Bernd Knöll, Renate Lüllmann-Rauch, Paul Saftig, Christian Haass, Yasuo Uchiyama, Wolfgang Wurst, Renate Wanner, Anja Capell, Rudi D'Hooge, Georg Werner, Stijn Stroobants, Patrick Lüningschrör, Benedikt Wefers, Daniela Sinske, Soichiro Kakuta, Michael Sendtner, Benjamin Dombert, Markus Damme

المصدر: Cell Reports, Vol 30, Iss 10, Pp 3506-3519.e6 (2020)
Cell reports 30(10), 3506-3519.e6 (2020). doi:10.1016/j.celrep.2020.02.060

مصطلحات موضوعية: 0301 basic medicine, MODIFIER, Vacuole, pathology [Facial Nerve], VARIANTS, Axonal Transport, metabolism [Lysosomes], 0302 clinical medicine, innervation [Muscles], Risk Factors, Axon, lcsh:QH301-705.5, genetics [Nerve Tissue Proteins], Mice, Knockout, Motor Neurons, DEMENTIA, Muscles, ultrastructure [Autophagosomes], ultrastructure [Axon Initial Segment], Frontotemporal lobar degeneration, metabolism [Autophagosomes], Cell biology, genetics [Membrane Proteins], Facial Nerve, medicine.anatomical_structure, genetics [Frontotemporal Lobar Degeneration], Life Sciences & Biomedicine, PROTEINS, Nerve Tissue Proteins, ultrastructure [Motor Neurons], Biology, General Biochemistry, Genetics and Molecular Biology, MECHANISMS, Lipofuscin, 03 medical and health sciences, pathology [Brain Stem], MOTILITY, Lysosome, Organelle, medicine, Animals, Genetic Predisposition to Disease, ddc:610, metabolism [Cell Nucleus], PROGRANULIN, deficiency [Membrane Proteins], Axon Initial Segment, Cell Nucleus, FRONTOTEMPORAL LOBAR DEGENERATION, Science & Technology, deficiency [Nerve Tissue Proteins], MUTATIONS, Autophagosomes, metabolism [Axon Initial Segment], Membrane Proteins, ultrastructure [Lysosomes], metabolism [Motor Neurons], Cell Biology, medicine.disease, Axon initial segment, Mice, Inbred C57BL, 030104 developmental biology, nervous system, lcsh:Biology (General), Axoplasmic transport, Frontotemporal Lobar Degeneration, Lysosomes, 030217 neurology & neurosurgery, Brain Stem

وصف الملف: Print

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eaa4dcd1581611e9ae6d198c56b849fTest
http://www.sciencedirect.com/science/article/pii/S221112472030228XTest

المؤلفون: Emmanuelle C Genin, Sylvie Bannwarth, Baptiste Ropert, Françoise Lespinasse, Alessandra Mauri-Crouzet, Gaelle Augé, Konstantina Fragaki, Charlotte Cochaud, Erminia Donnarumma, Sandra Lacas-Gervais, Timothy Wai, Véronique Paquis-Flucklinger

المساهمون: Institut de Recherche sur le Cancer et le Vieillissement (IRCAN), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Biologie mitochondriale – Mitochondrial biology, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Centre Commun de Microscopie Appliquée (CCMA), Université de Nice Sophia-Antipolis (UNSA), This work was made possible by grants to V.P.-F. from the ANR (Agence Nationale de la Recherche) ANR-16-CE16-0024-01 and from the FRM (Fondation pour la Recherche Médicale) FRM: MND202004011475., We acknowledge Thibault Léger and the Proteomics facility of the Institut Jacques Monod, University of Paris Cité for mass spectrometry analysis. We also thank Christelle Boscagli for technical help. We gratefully acknowledge the IRCAN’s Molecular and Cellular Core Imaging (PICMI) facility, supported financially by FEDER, Conseil régional Provence Alpes-Côte d’Azur, Conseil Départemental 06, Cancéropôle PACA, Gis Ibisa and Inserm, the IRCAN’s Animal core facility, supported by FEDER, Région Provence Alpes-Côte d’Azur, Conseil Départemental 06 and Inserm, the IRCAN’s Histology core facility, supported by Région Provence Alpes-Côte d’Azur, Cancéropôle PACA and Université Côte d’Azur and, the University’s CCMA Electron Microscopy facility supported by Université Côte d’Azur, Région Provence Alpes-Côte d’Azur, Conseil Départemental 06 and Gis Ibisa, ANR-16-CE16-0024,MicroGol,Implication des fonctions sécrétoires de l'appareil de Golgi dans le développement des microcéphalies postnatales avec déficit intellectuel(2016), Lemesle, Marie, Implication des fonctions sécrétoires de l'appareil de Golgi dans le développement des microcéphalies postnatales avec déficit intellectuel - - MicroGol2016 - ANR-16-CE16-0024 - AAPG2016 - VALID

المصدر: Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2022, 145 (10), pp.3415-3430. ⟨10.1093/brain/awac197⟩

مصطلحات موضوعية: Motor Neurons, PHB = prohibitin, Amyotrophic Lateral Sclerosis, Membrane Proteins, PLA = proximity ligation assay, MICOS = mitochondrial contact site and cristae organizing system, MESH: Amyotrophic Lateral Sclerosis* / genetics Amyotrophic Lateral Sclerosis* / metabolism Animals Frontotemporal Dementia* / genetics Humans Membrane Proteins* / genetics Membrane Proteins* / metabolism Mice Mitochondria / metabolism Mitochondrial Proteins* / genetics Mitochondrial Proteins* / metabolism Motor Neurons / metabolism Prohibitins Transcription Factors / genetics, IMM = inner mitochondrial membrane, Mitochondria, Mitochondrial Proteins, Mice, ALS = amyotrophic lateral sclerosis, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Frontotemporal Dementia, Prohibitins, motor neuron disease, mitochondrion, Animals, Humans, FTD = frontotemporal dementia, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), RC = respiratory chain, MN = motor neuron, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43e4acee00dfd65b95c24c9f606e3ce2Test
https://pubmed.ncbi.nlm.nih.gov/35656794Test

المؤلفون: Pietro Tiraboschi, Katrina M. Moore, Nick C. Fox, David L. Thomas, Jonathan D. Rohrer, Begoña Indakoetxea, Serge Gauthier, Thomas E. Cope, Mikel TaintaMD, Enrico Premi, Philip Vandamme, Giorgio Giaccone, Mircea Balasa, Sandra E. Black, John C. van Swieten, Catharina Prix, Sergi Borrego-Écija, Sandro Sorbi, Håkan Thonberg, Roser Sala-Llonch, Rick van Minkelen, Maria de Arriba, Elizabeth Finger, Michele Veldsman, Raquel Sánchez-Valle, Vesna Jelic, Veronica Redaelli, Zigor Diaz, James B. Rowe, Daniela Galimberti, Rhian S Convery, Anna Antonell, Miren Zulaica, Jennifer M. Nicholas, Alessandro Padovani, Diana Duro, Giuseppe Di Fede, Albert Lladó, Núria Bargalló, Pedro Rosa-Neto, Sara Prioni, Alazne Gabilondo, C. Ferreira, Andrea Arighi, Sara Mitchell, Mario Masellis, Chiara Fenoglio, Rachelle Shafei, Benjamin Bender, Rik Vandenberghe, Isabel Santana, Carlo Wilke, Christen Shoesmith, Janne M. Papma, Mathieu Vandenbulcke, Robart Bartha, Sandra V. Loosli, Giorgio Fumagalli, Ana Verdelho, Robert Laforce, Paola Caroppo, Adrian Danek, Jessica L. Panman, Maria Rosário Almeida, Carolin Heller, Jorge Villanua, Johannes Levin, Rita Guerreiro, Stefano Gazzina, Jose Bras, Miguel Castelo-Branco, Ekaterina Rogaeva, Fabrizio Tagliavini, Giacomina Rossi, Markus Otto, Timothy Rittman, Beatriz Santiago, Simon Mead, Rosa Rademakers, Maria João Leitão, Simon Ducharme, Sarah Anderl-Straub, Ron Keren, Ione O.C. Woollacott, Morris Freedman, Gabriel Miltenberger, Fermin Moreno, Martin N. Rossor, Tobias Hoegen, Jaume Olives, Carolyn Timberlake, Barbara Borroni, Ricardo Taipa, Elio Scarpini, David M. Cash, Miguel Tábuas-Pereira, Roberto Gasparotti, Sonja Schönecker, Martina Bocchetta, Lieke H.H. Meeter, Alexander Gerhard, Rose Bruffaerts, Carmela Tartaglia, Caroline V. Greaves, Christopher C Butler, Toby Flanagan, Sónia Afonso, Matthis Synofzik, Linn Öijerstedt, David F. Tang-Wai, Yolande A.L. Pijnenburg, Maura Cosseddu, Carolina Maruta, Alexandre de Mendonça, Christin Andersson, Caroline Graff, Ana Gorostidi, Silvana Archetti, Giovanni B. Frisoni, Elisabeth Wlasich, Mollie Neason, Elisa Semler

المساهمون: Neurology, Amsterdam Neuroscience - Neurodegeneration, Clinical Psychology, Clinical Genetics, Repositório da Universidade de Lisboa, Rowe, James [0000-0001-7216-8679], Apollo - University of Cambridge Repository

المصدر: NeuroImage: Clinical, 29:102540. Elsevier BV
NeuroImage: Clinical, 29:102540. Elsevier
NeuroImage: Clinical 29, 102540-(2021). doi:10.1016/j.nicl.2020.102540
Medical Biophysics Publications
NeuroImage : Clinical
Borrego-Écija, S, Sala-Llonch, R, van Swieten, J, Borroni, B, Moreno, F, Masellis, M, Tartaglia, C, Graff, C, Galimberti, D, Laforce, R, Rowe, J B, Finger, E, Vandenberghe, R, Tagliavini, F, de Mendonça, A, Santana, I, Synofzik, M, Ducharme, S, Levin, J, Danek, A, Gerhard, A, Otto, M, Butler, C, Frisoni, G, Sorbi, S, Heller, C, Bocchetta, M, Cash, D M, Convery, R S, Moore, K M, Rohrer, J D, Sanchez-Valle, R, Rossor, M N, Fox, N C, Woollacott, I O C, Shafei, R, Greaves, C, Neason, M, Guerreiro, R, Bras, J, Thomas, D L, Nicholas, J, Mead, S, Meeter, L, Panman, J, Papma, J, van Minkelen, R, Pijnenburg, Y, Indakoetxea, B, Gabilondo, A, TaintaMD, M, de Arriba, M, Gorostidi, A, Zulaica, M, Villanua, J, Diaz, Z, Olives, J, Lladó, A, Balasa, M, Antonell, A, Bargallo, N, Premi, E, Cosseddu, M, Gazzina, S, Padovani, A, Gasparotti, R, Archetti, S, Black, S, Mitchell, S, Rogaeva, E, Freedman, M, Keren, R, Tang-Wai, D, Öijerstedt, L, Andersson, C, Jelic, V, Thonberg, H, Arighi, A, Fenoglio, C, Scarpini MD, E, Fumagalli, G, Cope, T, Timberlake, C, Rittman, T, Shoesmith, C, Bartha, R, Rademakers, R, Wilke, C, Bender, B, Bruffaerts, R, Vandamme, P, Vandenbulcke, M, Maruta, C, Ferreira, C B, Miltenberger, G, Verdelho, A, Afonso, S N, Taipa, R, Caroppo, P, di Fede, G, Giaccone, G, Prioni, S, Redaelli, V, Rossi, G, Tiraboschi, P, Duro, D, Rosario Almeida, M, Castelo-Branco, M, João Leitão, M, Tabuas-Pereira, M, Santiago, B, Gauthier, S, Rosa-Neto, P, Veldsman, M, Flanagan, T, Prix, C, Hoegen, T, Wlasich, E, Loosli, S, Schonecker, S, Semler, E & Anderl-Straub, S 2021, ' Disease-related cortical thinning in presymptomatic granulin mutation carriers ', NeuroImage: Clinical, vol. 29, 102540 . https://doi.org/10.1016/j.nicl.2020.102540Test
NeuroImage: Clinical, Vol 29, Iss, Pp 102540-(2021)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: Oncology, Granulin, Disease, Gene mutation, lcsh:RC346-429, 0302 clinical medicine, Progranulins, Supramarginal gyrus, genetics [Frontotemporal Dementia], genetics [Nerve Tissue Proteins], Granulins, Temporal cortex, 05 social sciences, Regular Article, Cerebral Cortical Thinning, Genetic mutations, genetics [Membrane Proteins], Neurology, Frontotemporal Dementia, lcsh:R858-859.7, Life Sciences & Biomedicine, Frontotemporal dementia, GRN, medicine.medical_specialty, Heterozygote, Cognitive Neuroscience, Presymptomatic, Neuroimaging, Nerve Tissue Proteins, genetics [Mutation], Genetic FTD Initiative GENFI, lcsh:Computer applications to medicine. Medical informatics, diagnostic imaging [Frontotemporal Dementia], 050105 experimental psychology, Cortical thickness, 03 medical and health sciences, Internal medicine, medicine, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, ddc:610, lcsh:Neurology. Diseases of the nervous system, Science & Technology, business.industry, Membrane Proteins, medicine.disease, Mutation, Neurosciences & Neurology, Neurology (clinical), 1109 Neurosciences, business, Asymptomatic carrier, 030217 neurology & neurosurgery

وصف الملف: application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::206c236cf6771818dba529a883b4673fTest
https://research.vumc.nl/en/publications/f32bfcad-31e0-49f2-b957-578f21195ea2Test

المؤلفون: Carl P. Blobel, Stefan F. Lichtenthaler, Samantha G. Lessard, Tak W. Mak, Renpeng Fang, David R. McIlwain, Miguel Otero, Gisela Weskamp, Coline Haxaire

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 8732, p 8732 (2020)
Volume 21
Issue 22
International journal of molecular sciences 21(22), 8732-(2020). doi:10.3390/ijms21228732

مصطلحات موضوعية: 0301 basic medicine, cytology [Chondrocytes], Appendicular skeleton, iRhom1 protein, mouse, EGFR protein, mouse, a disintegrin and metalloprotease 17, Cre recombinase, Cell Communication, genetics [Carrier Proteins], genetics [Integrases], lcsh:Chemistry, Mice, 0302 clinical medicine, Osteogenesis, metabolism [Transforming Growth Factor alpha], Growth Plate, lcsh:QH301-705.5, Spectroscopy, Bone growth, Mice, Knockout, Metalloproteinase, ADAM17, biology, Col2a1 protein, mouse, growth & development [Growth Plate], genetics [Chondrogenesis], Cell Differentiation, General Medicine, musculoskeletal system, Computer Science Applications, Cell biology, ddc, ErbB Receptors, genetics [Membrane Proteins], genetics [Osteogenesis], medicine.anatomical_structure, endochondral ossification, 030220 oncology & carcinogenesis, ddc:540, embryonic structures, Chondrogenesis, metabolism [ErbB Receptors], Signal Transduction, animal structures, genetics [ADAM17 Protein], ADAM17 Protein, Catalysis, Adam17 protein, mouse, Article, iRhom1, 2, Inorganic Chemistry, genetics [ErbB Receptors], genetics [Transforming Growth Factor alpha], 03 medical and health sciences, metabolism [ADAM17 Protein], Calcification, Physiologic, Chondrocytes, metabolism [Integrases], iRhom2 protein, mouse, Disintegrin, medicine, Animals, Egfr signaling, Physical and Theoretical Chemistry, Molecular Biology, Endochondral ossification, deficiency [Membrane Proteins], Collagen Type II, genetics [Calcification, Physiologic], Cell Proliferation, Integrases, Organic Chemistry, metabolism [Collagen Type II], metabolism [Chondrocytes], metabolism [Growth Plate], Membrane Proteins, Transforming Growth Factor alpha, 030104 developmental biology, genetics [Collagen Type II], lcsh:Biology (General), lcsh:QD1-999, Gene Expression Regulation, Egfr mutation, biology.protein, Growth plates, inactive Rhomboid 1, 2, Carrier Proteins, metabolism [Membrane Proteins], metabolism [Carrier Proteins]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a5dfc577f0ef5f1640706ce4216013dTest
https://pubmed.ncbi.nlm.nih.gov/33227998Test

المؤلفون: Stefan F. Lichtenthaler, Edgar Meinl

المصدر: Journal of Biological Chemistry
JBC papers in press 295(35), 12353-12354 (2020). doi:10.1074/jbc.H120.015304

مصطلحات موضوعية: 0301 basic medicine, Proteases, metabolism [Amino Acids], ADAM17 Protein, Biochemistry, metabolism [Cell Membrane], metabolism [ADAM17 Protein], 03 medical and health sciences, Extracellular, ddc:610, Amino Acids, Molecular Biology, chemistry.chemical_classification, Metalloproteinase, 030102 biochemistry & molecular biology, Chemistry, Cell Membrane, Membrane Proteins, Cell Biology, Sheddase, Amino acid, Cell biology, genetics [Membrane Proteins], ADAM Proteins, 030104 developmental biology, Membrane protein, Ectodomain, metabolism [ADAM Proteins], Proteolysis, metabolism [Membrane Proteins], Function (biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f3dca9e631fb0ce2957b6ce371d1eb9Test
https://pubmed.ncbi.nlm.nih.gov/32580944Test