11 results on '"Melanie L. Dunstan"'
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2. Convergent genetic and expression data implicate immunity in Alzheimer's disease
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John R. Gilbert, Simon Lovestone, Diana Zelenika, Walter A. Kukull, Peter Passmore, Chiao-Feng Lin, Nathalie Fievet, Brian W. Kunkle, Dominique Campion, Philip L. De Jager, Adam C. Naj, Kara L. Hamilton-Nelson, Lina Keller, Jean-Charles Lambert, Denise Harold, Paul K. Crane, John Powell, Kathryn L. Lunetta, Paolo Caffarra, Lei Yu, Anthony Bayer, Tricia A. Thornton-Wells, Christiane Reitz, Eric B. Larson, Florentino Sanchez Garcia, Lindsay A. Farrer, Charlene Thomas, Ekaterina Rogaeva, Victoria Alavarez, Alfredo Ramirez, Pascale Barberger-Gateau, Dan Rujescu, Paul Hollingworth, Margaret A. Pericak-Vance, Daniela Galimberti, J. Kornhuber, Alexey Vedernikov, Philippe Amouyel, Peter Holmans, Gianfranco Spalletta, Carole Dufouil, Wolfgang Maier, Patrick G. Kehoe, Florence Pasquier, Lesley Jones, Harald Hampel, Stephen Todd, Valur Emilsson, Pau Pastor, Manuel Mayhaus, Claudine Berr, Seth Love, Michelangelo Mancuso, Mikko Hiltunen, Simon Mead, Hilkka Soininen, Vincent Deramecourt, Bernadette McGuinness, Magda Tsolaki, Jean-François Dartigues, Jordi Clarimón, Marie-Thérèse Bihoreau, Laura Fratiglioni, Duane Beekly, Sabrina Pichler, Caroline Graff, Albert V. Smith, Nick C. Fox, Amy Gerrish, Karen Ritchie, Carlos Cruchaga, John Hardy, Benedetta Nacmias, Maria Candida Deniz Naranjo, Christine Van Broeckhoven, Laura B. Cantwell, Minerva M. Carrasquillo, Richard Mayeux, Karolien Bettens, Vincent Chouraki, Clive Holmes, Thomas H. Mosley, David C. Rubinsztein, Gyungah Jun, Anita L. DeStefano, Lenore J. Launer, Alexander Richards, Jerome I. Rotter, Lars Lannfelt, Annette L. Fitzpatrick, Fanggeng Zou, Joseph D. Buxbaum, Cristina Razquin, Mercè Boada, Najaf Amin, Palmi V. Jonsson, Martin Dichgans, Thomas J. Montine, Yoichiro Kamatani, Debby W. Tsuang, Alexis Brice, Hakon Hakonarson, John Collinge, Albert Hofman, Eden R. Martin, Oscar L. Lopez, Olivier Hanon, Melanie L. Dunstan, Kevin Morgan, Nicola Jones, Cornelia M. van Duijn, Valentina Escott-Price, Vilmundur Gudnason, Susanne Moebus, Peter St George-Hyslop, Michael Conlon O'Donovan, Michael Gill, Tim Becker, Markus M. Nöthen, Sandro Sorbi, Céline Bellenguez, Mike A. Nalls, Martin Ingelsson, Otto Valladares, Kristel Sleegers, Sudha Seshadri, Gerard D. Schellenberg, María J. Bullido, Patrizia Mecocci, Eric Boerwinkle, Michael John Owen, Helena Schmidt, Kristelle Brown, Julie Williams, Renée F.A.G. de Bruijn, Jonathan L. Haines, Mark Lathrop, Maria Del Zompo, Denis A. Evans, Rebecca Sims, Badri N. Vardarajan, John S. K. Kauwe, Luc Letteneur, Agustín Ruiz, David Craig, Steven G. Younkin, Bruce M. Psaty, Ignacio Mateo, Tatiana Foroud, David Wallon, P. Bosco, Alberti Lleò, Amanda J. Myers, Alberto Pilotto, Petra Proitsi, Reinhold Schmidt, Matthew J. Huentelman, David A. Bennett, Onofre Combarros, Kelley Faber, Gudny Eiriksdottir, M. Arfan Ikram, Lluís Tárraga, Francesco Panza, Carla A. Ibrahim-Verbaas, Joshua C. Bis, Li-San Wang, Matthias Riemenschneider, Gary W. Beecham, Alison Goate, Seung Hoan Choi, John Gallacher, Robert Clarke, Didier Hannequin, Deborah Blacker, Frank Jessen, Christophe Tzourio, Tamara B. Harris, Benjamin Grenier-Boley, Paola Bossù, Janet A. Johnston, M. Ilyas Kamboh, Giancarlo Russo, Timothy Stone, Carol Brayne, Eliecer Coto, French National Foundation on Alzheimer’s Disease and Related Disorders, Institut Pasteur, National Institutes of Health (US), Centre National de Genotypage (France), Fédération pour la Recherche sur le Cerveau (France), Erasmus University Rotterdam, Medical Research Council (UK), International Genomics of Alzheimer's Disease Consortium (IGAP), Neurology, and Epidemiology
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Pathway analysis ,Epidemiology ,ALIGATOR ,Alzheimer's disease ,Cholesterol metabolism ,Dementia ,Endocytosis ,Immune response ,Neurodegeneration ,Ubiquitination ,Weighted gene co-expression network analysis ,Medizin ,Genome-wide association study ,genetics [Alzheimer Disease] ,Gene expression ,Genetics ,education.field_of_study ,Health Policy ,Brain ,Single Nucleotide ,3. Good health ,Psychiatry and Mental Health ,Algorithms ,Alzheimer Disease ,Genome-Wide Association Study ,Humans ,Polymorphism, Single Nucleotide ,Genetic Predisposition to Disease ,Developmental Neuroscience ,Neurology (clinical) ,Geriatrics and Gerontology ,Cellular and Molecular Neuroscience ,Alzheimer’s disease ,metabolism [Alzheimer Disease] ,Population ,Genomics ,Biology ,Aligator ,Article ,Biological pathway ,SDG 3 - Good Health and Well-being ,medicine ,ddc:610 ,Polymorphism ,education ,medicine.disease ,Protein ubiquitination ,metabolism [Brain] ,Human medicine - Abstract
© 2015, Elsevier Inc. All rights reserved. Background: Late-onset Alzheimer's disease (AD) is heritable with 20 genes showing genome-wide association in the International Genomics of Alzheimer's Project (IGAP). To identify the biology underlying the disease, we extended these genetic data in a pathway analysis. Methods: The ALIGATOR and GSEA algorithms were used in the IGAP data to identify associated functional pathways and correlated gene expression networks in human brain. Results: ALIGATOR identified an excess of curated biological pathways showing enrichment of association. Enriched areas of biology included the immune response (P = 3.27 × 10-12 after multiple testing correction for pathways), regulation of endocytosis (P = 1.31 × 10-11), cholesterol transport (P = 2.96 × 10-9), and proteasome-ubiquitin activity (P = 1.34 × 10-6). Correlated gene expression analysis identified four significant network modules, all related to the immune response (corrected P =.002-.05). Conclusions: The immune response, regulation of endocytosis, cholesterol transport, and protein ubiquitination represent prime targets for AD therapeutics., Medical Research Council, Alzheimer’s Research UK, and theWelsh Assembly Government. ADGC and CHARGE were supported by the National Institutes of Health, National Institute on Aging (NIH-NIA). CHARGE was also supported by Erasmus Medical Center and Erasmus University. IGAP was funded by the French National Foundation on Alzheimer’s Disease and Related Disorders, the Centre National de Genotypage and the Institut Pasteur de Lille, Inserm, FRC (Fondation pour la Recherche sur le Cerveau), and Rotary. This work has been developed and supported by the LABEX (Laboratory of Excellence Program Investment for the Future) DISTALZ grant (Development of Innovative Strategies for a Transdisciplinary approach to ALZheimer’s disease).
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- 2015
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3. [P1–195]: EFFECTS OF CD2AP DEFICIENCY ON RECEPTOR‐MEDIATED ENDOCYTOSIS AND APP PROCESSING IN HUMAN NEURONAL CELLS
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Emma Jane Kidd, Julie Williams, Amy Gerrish, Taniesha Morgan, Karolina Dec, Lindy Goddard, Rhian S. Thomas, and Melanie L. Dunstan
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Psychiatry and Mental health ,Cellular and Molecular Neuroscience ,Developmental Neuroscience ,Epidemiology ,Chemistry ,Health Policy ,Neurology (clinical) ,Receptor-mediated endocytosis ,Geriatrics and Gerontology ,Cell biology - Published
- 2017
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4. P1‐142: Investigating the Effect of Multiple Genes on Cellular Processes Implicated in Late Onset Alzheimer’s Disease
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Anna N. Barrett, Julie Williams, Lesley Jones, Melanie L. Dunstan, Emma Jane Kidd, and Rhian S. Thomas
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Psychiatry and Mental health ,Cellular and Molecular Neuroscience ,Developmental Neuroscience ,Epidemiology ,Health Policy ,Immunology ,Late onset ,Neurology (clinical) ,Disease ,Geriatrics and Gerontology ,Biology ,Gene - Published
- 2016
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5. P1‐145: The Role of CD2AP in APP Processing
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Amy Gerrish, Rhian S. Thomas, Julie Williams, Nandini Badarinarayan, Helen Owens, Taniesha Morgan, Melanie L. Dunstan, and Emma Jane Kidd
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0301 basic medicine ,03 medical and health sciences ,Psychiatry and Mental health ,Cellular and Molecular Neuroscience ,030104 developmental biology ,0302 clinical medicine ,Developmental Neuroscience ,Epidemiology ,Health Policy ,Neurology (clinical) ,Geriatrics and Gerontology ,Biology ,030217 neurology & neurosurgery - Published
- 2016
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6. P1‐143: Investigating the Role of BIN1 , an Alzheimer's Disease Risk Gene, in Endocytosis at the Blood‐Brain Barrier
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Anna L. Burt, Rhian S. Thomas, Melanie L. Dunstan, Rebecca Sims, and Julie Williams
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0301 basic medicine ,Epidemiology ,business.industry ,Health Policy ,Blood–brain barrier ,Endocytosis ,03 medical and health sciences ,Psychiatry and Mental health ,Cellular and Molecular Neuroscience ,030104 developmental biology ,medicine.anatomical_structure ,Developmental Neuroscience ,Immunology ,medicine ,Disease risk ,Neurology (clinical) ,Geriatrics and Gerontology ,business ,Gene - Published
- 2016
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7. P4‐202: The effects of CD2AP expression on app processing
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Emma Jane Kidd, Rhian S. Thomas, Julie Williams, Helen Owens, Taniesha Morgan, Amy Gerrish, and Melanie L. Dunstan
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Psychiatry and Mental health ,Cellular and Molecular Neuroscience ,Developmental Neuroscience ,Expression (architecture) ,Epidemiology ,Health Policy ,Neurology (clinical) ,Geriatrics and Gerontology ,Biology ,Cell biology - Published
- 2015
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8. P4‐238: THE FUNCTIONAL CHARACTERISATION OF TREM2 RISK VARIANTS USING BAC‐BASED EXPRESSION VECTORS
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Amy Gerrish, Melanie L. Dunstan, and Julie Williams
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Expression vector ,Epidemiology ,TREM2 ,Health Policy ,Transgene ,HEK 293 cells ,Mutagenesis (molecular biology technique) ,Transfection ,Computational biology ,Biology ,Recombineering ,Psychiatry and Mental health ,Cellular and Molecular Neuroscience ,Open reading frame ,Developmental Neuroscience ,Neurology (clinical) ,Geriatrics and Gerontology - Abstract
Background:A rare coding variant in the TREM2 gene has been associated with the common late-onset form of Alzheimer’s disease (AD). This variant, which results in an arginine (R) to histidine (H) substitution at residue 47 of the TREM2 protein, is predicted to triple disease risk. Recent studies led in part by the AD team at Cardiff University have identified a second risk variant within TREM2 (data not yet published). This variant is not in linkage disequilibrium with R47H and thus appears to exert independent effects on AD risk. TREM2 is a single-pass transmembrane protein which is expressed on the surface of microglia, macrophages and dendritic cells. It forms a receptor signalling complex with DAP12 and triggers activation of immune responses. The mechanisms by which TREM2 variants contribute to AD risk are unknown. Methods: To investigate the putative pathogenic effects of TREM2 risk variants we have created BAC-based expression vectors and transfected them into human immortalised cell lines. Risk variants were generated by site-directed mutagenesis and incorporated into the BAC vectors using recombineering technology. A peptide tag was incorporated within the TREM2 open reading frame to enable us to distinguish between endogenously expressed TREM2 and the TREM2 expressed from our vectors. Vectors were transfected into microglia cells via lipofection and the levels of transgene protein determined by western blotting. Results: We have validated our TREM2 vectors by detecting robust transgene expression in HEK cells. We are currently transfecting our TREM2 expression vectors into human microglia cells. Preliminary data will be presented in this poster. Conclusions: We have created and validated novel expression vectors which can be used to determine the pathogenic consequences of putative AD risk variants.
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- 2014
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9. P4-132 No evidence for association between the APH-1 and PEN-2 components of the gamma secratase complex with late onset Alzheimer's disease
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Mick O'Donovan, Julie Williams, Catherine Foy, Lesley Jones, Nichola Archer, Luke Jehu, Michael John Owen, Melanie L. Dunstan, Pam Moore, Simon Lovestone, and Paul Hollingworth
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Aging ,medicine.medical_specialty ,biology ,business.industry ,General Neuroscience ,Late onset ,Disease ,Endocrinology ,PEN-2 ,Internal medicine ,medicine ,biology.protein ,Neurology (clinical) ,Geriatrics and Gerontology ,APH-1 ,Association (psychology) ,business ,Developmental Biology - Published
- 2004
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10. P4-090 Evidence of association with late onset Alzheimer's disease on chromosome 10Q
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Amanda J. Edmondson, Pam Moore, Luke Jehu, Lesley Jones, Simon Lovestone, C. Foy, D. Turic, Susan Jones, Paul Hollingworth, Nicola Archer, Michael Conlon O'Donovan, Tim Peirce, Michaella Poppe, Gillian Hamilton, John Powell, Berwyn Lloyd, Michael John Owen, Louise V. Busby, Julie Williams, Sarah Walter, and Melanie L. Dunstan
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Genetics ,Aging ,business.industry ,General Neuroscience ,Chromosome ,Medicine ,Late onset ,Neurology (clinical) ,Disease ,Geriatrics and Gerontology ,business ,Association (psychology) ,Developmental Biology - Published
- 2004
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11. P4-106 Evidence for association of the calcium/calmodulin-dependent protein kinase type II gamma isoform (CAMKII γ) with late onset Alzheimer's disease
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Samuel E. Jones, Simon Lovestone, L. A. Jones, Petra Nowotny, Luke Jehu, M J Owen, M O'Donovan, Paul Hollingworth, Pam Moore, Julie Williams, Melanie L. Dunstan, and Alison Goate
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Aging ,medicine.medical_specialty ,biology ,Chemistry ,General Neuroscience ,Cyclin-dependent kinase 5 ,Cyclin-dependent kinase 2 ,Mitogen-activated protein kinase kinase ,Protein kinase R ,MAP2K7 ,Endocrinology ,Internal medicine ,Ca2+/calmodulin-dependent protein kinase ,medicine ,biology.protein ,Cyclin-dependent kinase 9 ,Neurology (clinical) ,Geriatrics and Gerontology ,Protein kinase A ,Developmental Biology - Published
- 2004
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