المؤلفون: Franz Hagn, Kai Schlepckow, Bettina Brunner, Harald Steiner, Andrea Steiner, Christian Haass

المصدر: The EMBO journal 39(20), e104247 (2020). doi:10.15252/embj.2019104247
The EMBO Journal

مصطلحات موضوعية: Protein Conformation, alpha-Helical, chemistry [Membrane Glycoproteins], Magnetic Resonance Spectroscopy, genetics [Amyloid Precursor Protein Secretases], genetics [Alzheimer Disease], metabolism [Microglia], 0302 clinical medicine, genetics [Membrane Glycoproteins], Membrane region, Structural Biology, Risk Factors, genetics [Adaptor Proteins, Signal Transducing], TREM2, genetics [Receptors, Immunologic], Receptors, Immunologic, Receptor, chemistry.chemical_classification, 0303 health sciences, Membrane Glycoproteins, General Neuroscience, Circular Dichroism, metabolism [Receptors, Immunologic], Articles, dynamics, Amino acid, ddc, Molecular Docking Simulation, Transmembrane domain, genetics [Membrane Proteins], Ectodomain, chemistry [Receptors, Immunologic], Microglia, metabolism [Alzheimer Disease], Signal Transduction, Intramembrane protease, Biology, Molecular Dynamics Simulation, Cleavage (embryo), genetics [Signal Transduction], General Biochemistry, Genetics and Molecular Biology, Article, metabolism [Cell Membrane], 03 medical and health sciences, metabolism [Adaptor Proteins, Signal Transducing], Protein Domains, Alzheimer Disease, ddc:570, Humans, chemistry [Membrane Proteins], structure, Molecular Biology, 030304 developmental biology, Adaptor Proteins, Signal Transducing, General Immunology and Microbiology, Cell Membrane, enzymology [Alzheimer Disease], Membrane Proteins, Post-translational Modifications, Proteolysis & Proteomics, chemistry [Adaptor Proteins, Signal Transducing], NMR, metabolism [Amyloid Precursor Protein Secretases], HEK293 Cells, chemistry, Mutation, biology.protein, Biophysics, Amyloid Precursor Protein Secretases, metabolism [Membrane Glycoproteins], 030217 neurology & neurosurgery, metabolism [Membrane Proteins], intramembrane protease, Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::336001d0982d8a4fa0349c4e2f1ac011Test

المؤلفون: Javier Rueda-Carrasco, Paula Garcia-Esparcia, Inmaculada Crespo, José A. Esteban, Juan Fortea, Pilar Esteve, José M. Valpuesta, Alberto Lleó, Guadalupe Pereyra, Estrella Gómez-Tortosa, María Jesús Martín-Bermejo, Isidro Ferrer, Mercedes Domínguez, Jonathan E. Draffin, Paola Bovolenta, Inmaculada Moreno, Daniel Alcolea, Alberto Rábano, Ester Aso, África Sandonís, Michael T. Heneka, María Inés Mateo

المساهمون: Ministerio de Economía y Competitividad (España), Fundación Tatiana Pérez de Guzmán el Bueno, Fundación Ramón Areces

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature reviews / Neuroscience 22(8), 1258-1268 (2019). doi:10.1038/s41593-019-0432-1
NATURE NEUROSCIENCE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau

مصطلحات موضوعية: 0301 basic medicine, metabolism [Intercellular Signaling Peptides and Proteins], genetics [Plaque, Amyloid], ADAM10, Long-Term Potentiation, genetics [Amyloid Precursor Protein Secretases], Plaque, Amyloid, genetics [Alzheimer Disease], APP protein, human, Pathogenesis, antagonists & inhibitors [Membrane Proteins], genetics [ADAM10 Protein], pathology [Alzheimer Disease], Mice, Amyloid beta-Protein Precursor, ADAM10 Protein, 0302 clinical medicine, Adam10 protein, mouse, drug therapy [Plaque, Amyloid], therapeutic use [Antibodies, Blocking], Metalloproteinase, General Neuroscience, genetics [Intercellular Signaling Peptides and Proteins], Long-term potentiation, Cell biology, genetics [Membrane Proteins], genetics [Amyloid beta-Protein Precursor], Intercellular Signaling Peptides and Proteins, metabolism [Alzheimer Disease], Amyloid, Transgene, Down-Regulation, Mice, Transgenic, Biology, biosynthesis [Membrane Proteins], 03 medical and health sciences, genetics [Brain Chemistry], Downregulation and upregulation, Secreted frizzled-related protein 1, Alzheimer Disease, ddc:570, mental disorders, Neurites, Animals, Humans, Sfrp1 protein, mouse, pathology [Plaque, Amyloid], Antibodies, Blocking, biosynthesis [ADAM10 Protein], Brain Chemistry, Membrane Proteins, 030104 developmental biology, biosynthesis [Amyloid Precursor Protein Secretases], Amyloid Precursor Protein Secretases, Neuroscience, 030217 neurology & neurosurgery, metabolism [Membrane Proteins], pathology [Neurites]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21a0f9a5692c67f30d39b2f9105c61ffTest
http://hdl.handle.net/10261/193936Test

المؤلفون: Regina Feederle, Christian Haass, Akio Fukumori, Kai Schlepckow, Stefan F. Lichtenthaler, Gernot Kleinberger, Harald Steiner

المصدر: EMBO Molecular Medicine
EMBO molecular medicine 9(10), 1356-1365 (2017). doi:10.15252/emmm.201707672

مصطلحات موضوعية: 0301 basic medicine, THP-1 Cells, genetics [Amyloid Precursor Protein Secretases], genetics [Alzheimer Disease], genetics [ADAM10 Protein], ADAM10 Protein, 0302 clinical medicine, genetics [Membrane Glycoproteins], Sequence Analysis, Protein, TREM2, Serine, genetics [Receptors, Immunologic], Receptors, Immunologic, Membrane Glycoproteins, Microglia, metabolism [Serine], Neurodegeneration, neurodegeneration, metabolism [Receptors, Immunologic], Alzheimer's disease, regulated intramembrane proteolysis, ADAM17 protein, human, genetics [Membrane Proteins], medicine.anatomical_structure, Ectodomain, metabolism [ADAM10 Protein], Molecular Medicine, physiology [Phagocytosis], metabolism [Alzheimer Disease], Proteases, ADAM10 protein, human, genetics [ADAM17 Protein], Immunology, Mutation, Missense, Biology, ADAM17 Protein, metabolism [Cell Membrane], metabolism [Histidine], metabolism [ADAM17 Protein], 03 medical and health sciences, Phagocytosis, Alzheimer Disease, Report, medicine, Disintegrin, Humans, genetics [Phagocytosis], Histidine, ddc:610, Secretory pathway, TREM2 protein, human, Endoplasmic reticulum, Cell Membrane, Membrane Proteins, medicine.disease, Molecular biology, metabolism [Amyloid Precursor Protein Secretases], Immunity, Innate, 030104 developmental biology, HEK293 Cells, biology.protein, Genetics, Gene Therapy & Genetic Disease, Amyloid Precursor Protein Secretases, metabolism [Membrane Glycoproteins], metabolism [Membrane Proteins], 030217 neurology & neurosurgery, Reports, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f94700a37bd71d3afaa296089b0ff15Test
http://europepmc.org/articles/PMC5623859Test

المؤلفون: Larissa Haertle, Cécile Cieuta-Walti, Tobias Müller, André Mégarbané, Per Hoffmann, Steffi G. Riedel-Heller, Daniel L. A. van de Hove, Thomas Haaf, Nady El Hajj, Marcus Dittrich, Michael Wagner, Sophie Durand, Renzo J. M. Riemens, Mathilde Roche, Roy Lardenoije, Clotilde Mircher, Anna Maierhofer, Aimé Ravel, Martin Scherer, Alfredo Ramirez, Markus Leber, Samantha Stora

المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, RS: MHeNs - R3 - Neuroscience, Promovendi MHN

المصدر: Clinical Epigenetics
Clinical epigenetics 11(1), 195 (2019). doi:10.1186/s13148-019-0787-x
Clinical epigenetics, 11(1):195. BioMed Central Ltd

مصطلحات موضوعية: Oncology, Epigenomics, Male, Trisomy 21, Down syndrome, Intellectual disability, genetics [Amyloid Precursor Protein Secretases], CHILDREN, genetics [Alzheimer Disease], Epigenesis, Genetic, genetics [ADAM10 Protein], ADAM10 Protein, Infinium Methylation EPIC arrays, 0302 clinical medicine, Cognition, Germany, methods [Epigenomics], Senile plaques, DOWN-SYNDROME, Longitudinal Studies, Prospective Studies, Cognitive decline, Genetics (clinical), 0303 health sciences, DNA methylation, DEMENTIA, diagnosis [Alzheimer Disease], Alzheimer's disease, Alzheimer’s disease, Cognitive function, Trisomy, genetics [Membrane Proteins], Female, Adult, medicine.medical_specialty, IMMUNITY, 03 medical and health sciences, Young Adult, Alzheimer Disease, Internal medicine, Genetics, medicine, genetics [Down Syndrome], Dementia, Humans, Epigenetics, ddc:610, GENOME-WIDE ASSOCIATION, Molecular Biology, METAANALYSIS, 030304 developmental biology, RECEPTOR, business.industry, Research, Membrane Proteins, DNA Methylation, medicine.disease, Differentially methylated regions, Early Diagnosis, Amyloid Precursor Protein Secretases, business, 030217 neurology & neurosurgery, EPIGENETIC DYSREGULATION, Developmental Biology, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a2527d41481b05af1b4de175eeb3387Test
https://pubmed.ncbi.nlm.nih.gov/31843015Test

المؤلفون: Bénédicte Oulès, Patrizia Paterlini-Bréchot, Dolores Del Prete, Mounia Chami, Inger Lauritzen, Barbara Greco, Xuexin Zhang, Frédéric Checler, Sébastien Moreno, Mohamed Trebak, Jean Sevalle, Fabio Benfenati

المصدر: The Journal of Neuroscience. 32:11820-11834

مصطلحات موضوعية: Patch-Clamp Techniques, ychology), Messenger, genetics/metabolism, Plaque, Amyloid, Aminophenols, Endoplasmic Reticulum, Transgenic, Membrane Potentials, Maleimides, Amyloid beta-Protein Precursor, Mice, Neuroblastoma, Cytosol, Amyloid precursor protein, Inositol 1,4,5-Trisphosphate Receptors, genetics, Enzyme Inhibitors, Phosphorylation, Central, Cells, Cultured, 5-Trisphosphate Receptors, Plaque, Neurons, Cultured, Muscle Relaxants, Central, Ryanodine receptor, General Neuroscience, P3 peptide, Brain, drug effects/genetics, Calcium Channel Blockers, drug effects/metabolism/pathology, Embryo, Alzheimer's disease, Intracellular, metabolism/pathology, Muscle Relaxants, Amyloid, medicine.medical_specialty, Cells, Mice, Transgenic, Nerve Tissue Proteins, drug therapy/etiology/metabolism, Biology, Transfection, Article, Dantrolene, Presenilin, Alzheimer Disease, Caffeine, Internal medicine, complications/genetics/metabolism, mental disorders, Roscovitine, Reaction Time, medicine, Animals, Humans, RNA, Messenger, Maze Learning, Analysis of Variance, Memory Disorders, Amyloid beta-Peptides, Animal, Mammalian, Endoplasmic reticulum, Membrane Proteins, Recognition, Psychology, Ryanodine Receptor Calcium Release Channel, Embryo, Mammalian, Inositol 1, medicine.disease, Peptide Fragments, Disease Models, Animal, drug effects/physiology, Endocrinology, Gene Expression Regulation, Purines, therapeutic use, drug effects, Disease Models, Mutation, cytology, Exploratory Behavior, biology.protein, RNA, Calcium, pathology, Amyloid Precursor Protein Secretases, pharmacology, drug effects/metabolism, complications/genetics/metabolism, Aminophenols, therapeutic use, Amyloid Precursor Protein Secretases, genetics/metabolism, Amyloid beta-Peptides, metabolism, Amyloid beta-Protein Precursor, genetics/metabolism, Analysis of Variance, Animals, Brain, cytology, Caffeine, pharmacology, Calcium Channel Blockers, therapeutic use, Calcium, metabolism, Cells, Cultured, Cytosol, drug effects/metabolism, Dantrolene, pharmacology, Disease Models, Animal, Embryo, Mammalian, Endoplasmic Reticulum, drug effects/metabolism/pathology, Enzyme Inhibitors, therapeutic use, Exploratory Behavior, drug effects, Gene Expression Regulation, drug effects/genetics, Humans, Inositol 1, 4, genetics/metabolism, Maleimides, therapeutic use, Maze Learning, drug effects, Membrane Potentials, drug effects/genetics, Membrane Proteins, metabolism, Memory Disorders, drug therapy/etiology/metabolism, Mice, Mice, Transgenic, Muscle Relaxants, pharmacology, Mutation, genetics, Nerve Tissue Proteins, metabolism, Neuroblastoma, pathology, Neurons, drug effects/physiology, Patch-Clamp Techniques, Peptide Fragments, metabolism, Phosphorylation, drug effects/genetics, Plaque, metabolism/pathology, Purines, therapeutic use, RNA, metabolism, Reaction Time, drug effects, Ryanodine Receptor Calcium Release Channel, genetics/metabolism, Transfection, ychology), metabolism, Amyloid precursor protein secretase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b0c0f6ea578d7ddc16857385cd179e1Test
https://doi.org/10.1523/jneurosci.0875-12.2012Test

المؤلفون: Neill R. Graff-Radford, Caroline S. Widdowson, John Hardy, Simon Lovestone, Stefan Schreiber, Ana Frank-García, Amy Gerrish, Kevin Mayo, Alexandra Stretton, Michael John Owen, Minerva M. Carrasquillo, Seth Love, Jade Chapman, Vincent Chouraki, Monique M.B. Breteler, Francesco Panza, Emma R L C Vardy, Ronald C. Petersen, Harald Hampel, S. Nicolhaus, Lenore J. Launer, Michelle K. Lupton, Eckart Rüther, A. David Smith, David C. Rubinsztein, Rebecca Sims, Gill Livingston, Diana Zelenika, Simon Mead, Martin N. Rossor, Hilkka Soininen, Christine Van Broeckhoven, Kristel Sleegers, Thorlakur Jonsson, M. Arfan Ikram, Helen Beaumont, Michael Conlon O'Donovan, Federico Licastro, Sudha Seshadri, Alexander Richards, Nick C. Fox, Markus M. Nöthen, Claudine Berr, T. Feulner, Benedetta Nacmias, Carlos Cruchaga, Peter Passmore, Oscar L. Lopez, Julie Williams, Matthias Riemenschneider, Florence Pasquier, John Gallacher, Didier Hannequin, Sigrid Botne Sando, Jens Wiltfang, Charlene Thomas, Gabriele Siciliano, Maria Barcikowska, Mikko Hiltunen, Carol Brayne, Dobril Ivanov, Anita L. DeStefano, Bernadette McGuinness, Norman Klopp, Gordon K. Wilcock, Aoibhinn Lynch, Wolfgang Maier, Peter Holmans, H.-Erich Wichmann, Giorgio Annoni, Beatrice Arosio, Alison Goate, Sigurbjorn Bjornsson, Karl-Heinz Jöckel, Dan Rujescu, Hugh Gurling, Nigel M. Hooper, Clive Holmes, Andrew McQuillin, Patricia Friedrich, John Powell, Rhian Gwilliam, R. Heun, Jacques Epelbaum, Isabella Heuser, Magda Tsolaki, Dennis W. Dickson, Alberto Pilotto, Stephen Todd, Dominique Campion, Michael Krawczak, Jan O. Aasly, Olivier Hanon, Patrick G. Kehoe, Johannes Kornhuber, Marc Delepine, Peter Paul De Deyn, Britta Schürmann, Brian A. Lawlor, Christophe Tzourio, Richard Abraham, Petra Nowotny, Jean-François Dartigues, Heike Kölsch, Michelangelo Mancuso, Marian L. Hamshere, Zbigniew K. Wszolek, Paola Piccardi, Paolo Bosco, Jean-Charles Lambert, Denise Harold, Frank Jessen, Palmi V. Jonsson, Paola Bossù, Paul Hollingworth, Jon Snaedal, Michael Gill, Onofre Combarros, David M. A. Mann, John C. Morris, Annette L. Fitzpatrick, Christopher Shaw, Alexis Brice, Philippe Amouyel, Elio Scarpini, Lesley Jones, Sebastiaan Engelborghs, Daniela Galimberti, Vincenzo Solfrizzi, V. Shane Pankratz, John Collinge, María J. Bullido, Kristelle Brown, Nicholas Bass, Andrew B. Singleton, Jaspreet Singh Pahwa, Kari Stefansson, Lutz Frölich, Steven G. Younkin, Ignacio Mateo, Annick Alpérovitch, Benjamin Genier-Boley, Ina Giegling, Caterina Riehle, Kimberley Dowzell, Mark Lathrop, Hreinn Stefansson, Sandro Sorbi, Rita Guerreiro, Thomas W. Mühleisen, Karolien Bettens, Michael Hüll, Martin Dichgans, Petroula Proitsi, Panagiotis Deloukas, Valentina Moskvina, Cornelia M. van Duijn, Donald Warden, Victoria Alvarez, Eliecer Coto, Kevin Morgan, Susanne Moebus, Ammar Al-Chalabi, Elisa Porcellini, Stefan Wagenpfeil, Hendrik van den Bussche, John S. K. Kauwe, Stacy Steinberg, David Craig, Nicola Jones, Manuel Mayhaus, Davide Seripa

المساهمون: Neurology, NCA - Neurodegeneration, HOLLINGWORTH P, HAROLD D, SIMS R, GERRISH A, LAMBERT JC, CARRASQUILLO MM, ABRAHAM R, HAMSHERE ML, PAHWA JS, MOSKVINA V, DOWZELL K, JONES N, STRETTON A, THOMAS C, RICHARDS A, IVANOV D, WIDDOWSON C, CHAPMAN J, LOVESTONE S, POWELL J, PROITSI P, LUPTON MK, BRAYNE C, RUBINSZTEIN DC, GILL M, LAWLOR B, LYNCH A, BROWN KS, PASSMORE PA, CRAIG D, MCGUINNESS B, TODD S, HOLMES C, MANN D, SMITH AD, BEAUMONT H, WARDEN D, WILCOCK G, LOVE S, KEHOE PG, HOOPER NM, VARDY ER, HARDY J, MEAD S, FOX NC, ROSSOR M, COLLINGE J, MAIER W, JESSEN F, RÜTHER E, SCHÜRMANN B, HEUN R, KÖLSCH H, VAN DEN BUSSCHE H, HEUSER I, KORNHUBER J, WILTFANG J, DICHGANS M, FRÖLICH L, HAMPEL H, GALLACHER J, HÜLL M, RUJESCU D, GIEGLING I, GOATE AM, KAUWE JS, CRUCHAGA C, NOWOTNY P, MORRIS JC, MAYO K, SLEEGERS K, BETTENS K, ENGELBORGHS S, DE DEYN PP, VAN BROECKHOVEN C, LIVINGSTON G, BASS NJ, GURLING H, MCQUILLIN A, GWILLIAM R, DELOUKAS P, AL-CHALABI A, SHAW CE, TSOLAKI M, SINGLETON AB, GUERREIRO R, MÜHLEISEN TW, NÖTHEN MM, MOEBUS S, JÖCKEL KH, KLOPP N, WICHMANN HE, PANKRATZ VS, SANDO SB, AASLY JO, BARCIKOWSKA M, WSZOLEK ZK, DICKSON DW, GRAFF-RADFORD NR, PETERSEN RC, ALZHEIMER'S DISEASE NEUROIMAGING INITIATIVE, VAN DUIJN CM, BRETELER MM, IKRAM MA, DESTEFANO AL, FITZPATRICK AL, LOPEZ O, LAUNER LJ, SESHADRI S, CHARGE CONSORTIUM, BERR C, CAMPION D, EPELBAUM J, DARTIGUES JF, TZOURIO C, ALPÉROVITCH A, LATHROP M, EADI1 CONSORTIUM, FEULNER TM, FRIEDRICH P, RIEHLE C, KRAWCZAK M, SCHREIBER S, MAYHAUS M, NICOLHAUS S, WAGENPFEIL S, STEINBERG S, STEFANSSON H, STEFANSSON K, SNAEDAL J, BJÖRNSSON S, JONSSON PV, CHOURAKI V, GENIER-BOLEY B, HILTUNEN M, SOININEN H, COMBARROS O, ZELENIKA D, DELEPINE M, BULLIDO MJ, PASQUIER F, MATEO I, FRANK-GARCIA A, PORCELLINI E, HANON O, COTO E, ALVAREZ V, BOSCO P, SICILIANO G, MANCUSO M, PANZA F, SOLFRIZZI V, NACMIAS B, SORBI S, BOSSÙ P, PICCARDI P, AROSIO B, ANNONI G, SERIPA D, PILOTTO A, SCARPINI E, GALIMBERTI D, BRICE A, HANNEQUIN D, LICASTRO F, JONES L, HOLMANS PA, JONSSON T, RIEMENSCHNEIDER M, MORGAN K, YOUNKIN SG, OWEN MJ, O'DONOVAN M, AMOUYEL P, WILLIAMS J, Epidemiology, Radiology & Nuclear Medicine, Clinical sciences, Pathologic Biochemistry and Physiology, Hollingworth, P, Harold, D, Sims, R, Gerrish, A, Lambert, J, Carrasquillo, M, Abraham, R, Hamshere, M, Pahwa, J, Moskvina, V, Dowzell, K, Jones, N, Stretton, A, Thomas, C, Richards, A, Ivanov, D, Widdowson, C, Chapman, J, Lovestone, S, Powell, J, Proitsi, P, Lupton, M, Brayne, C, Rubinsztein, D, Gill, M, Lawlor, B, Lynch, A, Brown, K, Passmore, P, Craig, D, Mcguinness, B, Todd, S, Holmes, C, Mann, D, Smith, A, Beaumont, H, Warden, D, Wilcock, G, Love, S, Kehoe, P, Hooper, N, Vardy, E, Hardy, J, Mead, S, Fox, N, Rossor, M, Collinge, J, Maier, W, Jessen, F, Rüther, E, Schürmann, B, Heun, R, Kölsch, H, van den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Frölich, L, Hampel, H, Gallacher, J, Hüll, M, Rujescu, D, Giegling, I, Goate, A, Kauwe, J, Cruchaga, C, Nowotny, P, Morris, J, Mayo, K, Sleegers, K, Bettens, K, Engelborghs, S, De Deyn, P, Van Broeckhoven, C, Livingston, G, Bass, N, Gurling, H, Mcquillin, A, Gwilliam, R, Deloukas, P, Al Chalabi, A, Shaw, C, Tsolaki, M, Singleton, A, Guerreiro, R, Mühleisen, T, Nöthen, M, Moebus, S, Jöckel, K, Klopp, N, Wichmann, H, Pankratz, V, Sando, S, Aasly, J, Barcikowska, M, Wszolek, Z, Dickson, D, Graff Radford, N, Petersen, R, van Duijn, C, Breteler, M, Ikram, M, Destefano, A, Fitzpatrick, A, Lopez, O, Launer, L, Seshadri, S, Berr, C, Campion, D, Epelbaum, J, Dartigues, J, Tzourio, C, Alpérovitch, A, Lathrop, M, Feulner, T, Friedrich, P, Riehle, C, Krawczak, M, Schreiber, S, Mayhaus, M, Nicolhaus, S, Wagenpfeil, S, Steinberg, S, Stefansson, H, Stefansson, K, Snædal, J, Björnsson, S, Jonsson, P, Chouraki, V, Genier Boley, B, Hiltunen, M, Soininen, H, Combarros, O, Zelenika, D, Delepine, M, Bullido, M, Pasquier, F, Mateo, I, Frank Garcia, A, Porcellini, E, Hanon, O, Coto, E, Alvarez, V, Bosco, P, Siciliano, G, Mancuso, M, Panza, F, Solfrizzi, V, Nacmias, B, Sorbi, S, Bossù, P, Piccardi, P, Arosio, B, Annoni, G, Seripa, D, Pilotto, A, Scarpini, E, Galimberti, D, Brice, A, Hannequin, D, Licastro, F, Jones, L, Holmans, P, Jonsson, T, Riemenschneider, M, Morgan, K, Younkin, S, Owen, M, O'Donovan, M, Amouyel, P, Williams, J

المصدر: Nature genetics 43(5), 429-435 (2011). doi:10.1038/ng.803
Nature Genetics, 43(5), 429-435. Nature Publishing Group
Hollingworth, P, Harold, D, Sims, R, Gerrish, A, Lambert, J-C, Carrasquillo, M M, Abraham, R, Hamshere, M L, Pahwa, J S, Moskvina, V, Dowzell, K, Jones, N, Stretton, A, Thomas, C, Richards, A, Ivanov, D, Widdowson, C, Chapman, J, Lovestone, S, Powell, J, Proitsi, P, Lupton, M K, Brayne, C, Rubinsztein, D C, Gill, M, Lawlor, B, Lynch, A, Brown, K S, Passmore, P A, Craig, D, McGuinness, B, Todd, S, Holmes, C, Mann, D, Smith, A D, Beaumont, H, Warden, D, Wilcock, G, Love, S, Kehoe, P G, Hooper, N M, Vardy, E R L C, Hardy, J, Mead, S, Fox, N C, Rossor, M, Collinge, J, Maier, W, Jessen, F, Ruether, E, Schuermann, B, Heun, R, Koelsch, H, van den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Froelich, L, Hampel, H, Gallacher, J, Huell, M, Rujescu, D, Giegling, I, Goate, A M, Kauwe, J S K, Cruchaga, C, Nowotny, P, Morris, J C, Mayo, K, Sleegers, K, Bettens, K, Engelborghs, S, De Deyn, P P, Van Broeckhoven, C, Livingston, G, Bass, N J, Gurling, H, McQuillin, A, Gwilliam, R, Deloukas, P, Al-Chalabi, A, Shaw, C E, Tsolaki, M, Singleton, A B, Guerreiro, R, Muehleisen, T W, Noethen, M M, Moebus, S, Joeckel, K-H, Klopp, N, Wichmann, H-E, Pankratz, V S, Sando, S B, Aasly, J O, Barcikowska, M, Wszolek, Z K, Dickson, D W, Graff-Radford, N R, Petersen, R C, van Duijn, C M, Breteler, M M B, Ikram, M A, DeStefano, A L, Fitzpatrick, A L, Lopez, O, Launer, L J, Seshadri, S, Berr, C, Campion, D, Epelbaum, J, Dartigues, J-F, Tzourio, C, Alperovitch, A, Lathrop, M, Feulner, T M, Friedrich, P, Riehle, C, Krawczak, M, Schreiber, S, Mayhaus, M, Nicolhaus, S, Wagenpfeil, S, Steinberg, S, Stefansson, H, Stefansson, K, Snaedal, J, Bjornsson, S, Jonsson, P V, Chouraki, V, Genier-Boley, B, Hiltunen, M, Soininen, H, Combarros, O, Zelenika, D, Delepine, M, Bullido, M J, Pasquier, F, Mateo, I, Frank-Garcia, A, Porcellini, E, Hanon, O, Coto, E, Alvarez, V, Bosco, P, Siciliano, G, Mancuso, M, Panza, F, Solfrizzi, V, Nacmias, B, Sorbi, S, Bossu, P, Piccardi, P, Arosio, B, Annoni, G, Seripa, D, Pilotto, A, Scarpini, E, Galimberti, D, Brice, A, Hannequin, D, Licastro, F, Jones, L, Holmans, P A, Jonsson, T, Riemenschneider, M, Morgan, K, Younkin, S G, Owen, M J, O'Donovan, M, Amouyel, P & Williams, J 2011, ' Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease ', Nature Genetics, vol. 43, no. 5, pp. 429-435 . https://doi.org/10.1038/ng.803Test
Nature genetics
Hollingworth, P, Harold, D, Sims, R, Gerrish, A, Lambert, J C, Carrasquillo, M M, Abraham, R, Hamshere, M L, Pahwa, J S, Moskvina, V, Dowzell, K, Jones, N, Stretton, A, Thomas, C, Richards, A, Ivanov, D, Widdowson, C, Chapman, J, Lovestone, S, Powell, J, Proitsi, P, Lupton, M K, Brayne, C, Rubinsztein, D C, Gill, M, Lawlor, B, Lynch, A, Brown, K S, Passmore, P, Craig, D, McGuinness, B, Todd, S, Holmes, C, Mann, D, Smith, A D, Beaumont, H, Warden, D, Wilcock, G, Love, S, Kehoe, P G, Hooper, N M, Vardy, E R L C, Hardy, J, Mead, S, Fox, N C, Rossor, M, Collinge, J, Maier, W, Jessen, F, Ruther, E, Schurmann, B, Heun, R, Kolsch, H, Van Den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Frolich, L, Hampel, H, Gallacher, J, Hull, M, Rujescu, D, Giegling, I, Goate, A M, Kauwe, J S K, Cruchaga, C, Nowotny, P, Morris, J C, Mayo, K, Sleegers, K, Bettens, K, Engelborghs, S, De Deyn, P P, Van Broeckhoven, C, Livingston, G, Bass, N J, Gurling, H, McQuillin, A, Gwilliam, R, Deloukas, P, Al-Chalabi, A, Shaw, C E, Tsolaki, M, Singleton, A B, Guerreiro, R, Muhleisen, T W, Nothen, M M, Moebus, S, Jockel, K H, Klopp, N, Wichmann, H E, Pankratz, V S, Sando, S B, Aasly, J O, Barcikowska, M, Wszolek, Z K, Dickson, D W, Graff-Radford, N R, Petersen, R C, Van Duijn, C M, Breteler, M M B, Ikram, M A, DeStefano, A L, Fitzpatrick, A L, Lopez, O, Launer, L J, Seshadri, S, Berr, C, Campion, D, Epelbaum, J, Dartigues, J F, Tzourio, C, Alperovitch, A, Lathrop, M, Feulner, T M, Friedrich, P, Riehle, C, Krawczak, M, Schreiber, S, Mayhaus, M, Nicolhaus, S, Wagenpfeil, S, Steinberg, S, Stefansson, H, Stefansson, K, Snaedal, J, Bjornsson, S, Jonsson, P V, Chouraki, V, Genier-Boley, B, Hiltunen, M, Soininen, H, Combarros, O, Zelenika, D, Delepine, M, Bullido, M J, Pasquier, F, Mateo, I, Frank-Garcia, A, Porcellini, E, Hanon, O, Coto, E, Alvarez, V, Bosco, P, Siciliano, G, Mancuso, M, Panza, F, Solfrizzi, V, Nacmias, B, Sorbi, S, Bossu, P, Piccardi, P, Arosio, B, Annoni, G, Seripa, D, Pilotto, A, Scarpini, E, Galimberti, D, Brice, A, Hannequin, D, Licastro, F, Jones, L, Holmans, P A, Jonsson, T, Riemenschneider, M, Morgan, K, Younkin, S G, Owen, M J, O'Donovan, M, Amouyel, P & Williams, J 2011, ' Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease ', Nature Genetics, vol. 43, no. 5, pp. 429-35 . https://doi.org/10.1038/ng.803Test
Hollingworth, P, Harold, D, Sims, R, Gerrish, A, Lambert, J C, Carrasquillo, M M, Abraham, R, Hamshere, M L, Pahwa, J S, Moskvina, V, Dowzell, K, Jones, N, Stretton, A, Thomas, C, Richards, A, Ivanov, D, Widdowson, C, Chapman, J, Lovestone, S, Powell, J, Proitsi, P, Lupton, M K, Brayne, C, Rubinsztein, D C, Gill, M, Lawlor, B, Lynch, A, Brown, K S, Passmore, P A, Craig, D, McGuinness, B, Todd, S, Holmes, C, Mann, D, Smith, A D, Beaumont, H, Warden, D, Wilcock, G, Love, S, Kehoe, P G, Hooper, N M, Vardy, E R L C, Hardy, J, Mead, S, Fox, N C, Rossor, M, Collinge, J, Maier, W, Jessen, F, Ruther, E, Schurmann, B, Heun, R, Kolsch, H, van den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Frolich, L, Hampel, H, Gallacher, J, Hull, M, Rujescu, D, Giegling, I, Goate, A M, Kauwe, J S K, Cruchaga, C, Nowotny, P, Morris, J C, Mayo, K, Sleegers, K, Bettens, K, Engelborghs, S, de Deyn, P P, Van Broeckhoven, C, Livingston, G, Bass, N J, Gurling, H, McQuillin, A, Gwilliam, R, Deloukas, P, Al-Chalabi, A, Shaw, C E, Tsolaki, M, Singleton, A B, Guerreiro, R, Muhleisen, T W, Nothen, M M, Moebus, S, Jockel, K H, Klopp, N, Wichmann, H E, Pankratz, V S, Sando, S B, Aasly, J O, Barcikowska, M, Wszolek, Z K, Dickson, D W & Graff-Radford, N R A O 2011, ' Common Variants at Abca7, Ms4A6A/Ms4A4E, Epha1, Cd33 and Cd2Ap Are Associated with Alzheimer'S Disease ', Nature Genetics, vol. 43, no. 5, pp. 429-435 . https://doi.org/10.1038/ng.803Test

مصطلحات موضوعية: Male, ABCA7 protein, human, ATP-Binding Cassette Transporters/genetics, Sialic Acid Binding Ig-like Lectin 3, CD33, SORL1, Medizin, genetics [Alzheimer Disease], Adaptor Proteins, Signal Transducing/genetics, Disease, PICALM, ABCA7, Disease susceptibility, 0302 clinical medicine, genetics [Adaptor Proteins, Signal Transducing], Databases, Genetic, GWAS, GENE-EXPRESSION, Medicine(all), Aged, 80 and over, Genetics, 0303 health sciences, Alzheimer's disease, genetic predisposition, Receptor, EphA1, ALZHEIMER’S DISEASE, Antigens, CD/genetics, genetics [Receptor, EphA1], genetics [Membrane Proteins], Multigene Family, Female, genetics [Antigens, Differentiation, Myelomonocytic], APOE, Antigens, Differentiation, Myelomonocytic, Single-nucleotide polymorphism, Case-control studies, Cytoskeletal Proteins/genetics, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, CD33 protein, human, Alzheimer Disease, Antigens, CD, ddc:570, Humans, Genetic Predisposition to Disease, Membrane Proteins/genetics, CLUSTERIN, Aged, genetics [Cytoskeletal Proteins], Adaptor Proteins, Signal Transducing, 030304 developmental biology, Alzheimer Disease/genetics, Antigens, Differentiation, Myelomonocytic/genetics, Genetic Variation, Membrane Proteins, CD2-associated protein, genetics [Antigens, CD], Cytoskeletal Proteins, MS4A4E protein, human, Case-Control Studies, Susceptibility locus, biology.protein, ATP-Binding Cassette Transporters, Human medicine, genetics [ATP-Binding Cassette Transporters], aged, 80 and over, Receptor, EphA1/genetics, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: STAMPA; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfea33b035eebd8e655803794b897217Test
https://doi.org/10.1038/ng.803Test

المؤلفون: Jens Hansen, Peer-Hendrik Kuhn, Wolfgang Wurst, Regina Augustin, Dietrich Trümbach, Sven Reinhardt, Stefan F. Lichtenthaler, Kristina Endres

المصدر: BMC Medical Genetics
BMC Med. Genet. 13:35 (2012)
BMC Medical Genetics, Vol 13, Iss 1, p 35 (2012)
BMC medical genetics 13(1), 35 (2012). doi:10.1186/1471-2350-13-35

مصطلحات موضوعية: Untranslated region, lcsh:Internal medicine, genetics [Neuroblastoma], lcsh:QH426-470, ADAM10 protein, human, metabolism [Neuroblastoma], genetics [Amyloid Precursor Protein Secretases], genetics [Alzheimer Disease], MiRNA binding, genetics [ADAM Proteins], Biology, ADAM10 Protein, Neuroblastoma, metabolism [MicroRNAs], Alzheimer Disease, microRNA, Tumor Cells, Cultured, Genetics, Humans, Genetics(clinical), ddc:610, genetics [MicroRNAs], lcsh:RC31-1245, Luciferases, 3' Untranslated Regions, Gene, Genetics (clinical), Regulation of gene expression, Reporter gene, Three prime untranslated region, Computational Biology, Membrane Proteins, Human genetics, genetics [Membrane Proteins], lcsh:Genetics, ADAM Proteins, MicroRNAs, metabolism [Luciferases], Gene Expression Regulation, genetics [3' Untranslated Regions], Amyloid Precursor Protein Secretases, metabolism [Alzheimer Disease], Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9e96c0c18b78e3f6fe1ef92d14550cfTest
https://doi.org/10.1186/1471-2350-13-35Test

المؤلفون: Stefan F. Lichtenthaler

المصدر: Current Alzheimer research 9(2), 165-177 (2012). doi:10.2174/156720512799361655

مصطلحات موضوعية: ADAM10 protein, human, ADAM10, genetics [Amyloid Precursor Protein Secretases], genetics [ADAM Proteins], APP protein, human, ADAM10 Protein, Amyloid beta-Protein Precursor, Alzheimer Disease, metabolism [Amyloid beta-Protein Precursor], physiology [Signal Transduction], Amyloid precursor protein, Animals, Humans, ddc:610, APH-1, biology, Chemistry, P3 peptide, Membrane Proteins, metabolism [Amyloid Precursor Protein Secretases], Biochemistry of Alzheimer's disease, Cell biology, genetics [Membrane Proteins], ADAM Proteins, Protein Transport, Neurology, Ectodomain, Alpha secretase, metabolism [ADAM Proteins], Proteolysis, biology.protein, Neurology (clinical), Amyloid Precursor Protein Secretases, Amyloid precursor protein secretase, metabolism [Membrane Proteins], Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f832da0b96bfe183757ba9c1f4ca715Test
https://pubmed.ncbi.nlm.nih.gov/21605033Test

المؤلفون: Christian Haass, Sonja Zilow, Claudia Prinzen, Ann-Katrin Ludwig, Dominik Buell, Stefan F. Lichtenthaler, Brigitte Nuscher, Sven Lammich, Falk Fahrenholz

المصدر: The journal of biological chemistry 285(21), 15753-15760 (2010). doi:10.1074/jbc.M110.110742

مصطلحات موضوعية: Five prime untranslated region, enzymology [Brain], ADAM10, ADAM10 protein, human, BACE1-AS, genetics [Amyloid Precursor Protein Secretases], genetics [Alzheimer Disease], genetics [ADAM Proteins], Biochemistry, Gene Expression Regulation, Enzymologic, biosynthesis [Membrane Proteins], ADAM10 Protein, Alzheimer Disease, Chlorocebus aethiops, Amyloid precursor protein, Protein biosynthesis, biosynthesis [Amyloid beta-Peptides], genetics [Amyloid beta-Peptides], Animals, Humans, Gene Regulation, Molecular Biology, Sequence Deletion, biosynthesis [ADAM Proteins], Amyloid beta-Peptides, biology, Base Sequence, P3 peptide, enzymology [Alzheimer Disease], Brain, Membrane Proteins, Cell Biology, Molecular biology, Biochemistry of Alzheimer's disease, genetics [Membrane Proteins], ADAM Proteins, biosynthesis [Amyloid Precursor Protein Secretases], Protein Biosynthesis, ddc:540, COS Cells, biology.protein, Amyloid Precursor Protein Secretases, 5' Untranslated Regions, Amyloid precursor protein secretase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e5f04b28db66df3106a7fd4d336910bTest
https://europepmc.org/articles/PMC2871442Test/

المؤلفون: Ringman, John M, Goate, Alison, Masters, Colin L, Cairns, Nigel J, Danek, Adrian, Graff-Radford, Neill, Ghetti, Bernardino, Morris, John C, Network, Dominantly Inherited Alzheimer

المصدر: Current Neurology and Neuroscience Reports
Current neurology and neuroscience reports 14(11), 499 (2014). doi:10.1007/s11910-014-0499-8

مصطلحات موضوعية: Apolipoprotein E, Down syndrome, Neuroscience(all), Clinical Neurology, genetics [Alzheimer Disease], genetics [Presenilin-2], Disease, Biology, physiopathology [Alzheimer Disease], Presenilin, PSEN1 protein, human, Amyloid beta-Protein Precursor, Genetic Heterogeneity, Genetic, Alzheimer Disease, PSEN2, Presenilin-2, medicine, PSEN1, Presenilin-1, Animals, Humans, ddc:610, Genetics, therapy [Alzheimer Disease], Genetic heterogeneity, PSEN2 protein, human, General Neuroscience, Membrane Proteins, genetics [Presenilin-1], medicine.disease, 3. Good health, genetics [Membrane Proteins], genetics [Amyloid beta-Protein Precursor], Amyloid precursor protein, Neurology (clinical), Alzheimer's disease, Heterogeneity, Dementia (KS Marder, Section Editor), Alzheimer’s disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96e92f66f058c19381376e2809bd1ee9Test