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Publications

Our scientific output and findings

From groundbreaking discoveries in basic science to innovative clinical insights, our publications showcase the breadth and depth of research taking place at the UK DRI. 

Nature communications
Published

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Authors
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Amélie Bosc-Rosati, Tzung-Chien Hsieh, Lise Bray, Marielle Oloudé, Cory Rosenfelt, Marie Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas J Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna M Hajdukowicz, Franziska G Thiel, Sophie Wolfgramm, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Yann Verrès, Audrey Dangoumau, Léa Poirier, Ingrid M Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill A Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G Monaghan, Sureni V Mullegama, Catharina M L Nienke Volker-Touw, Koen L I van Gassen, Renske Oegema, Mirjam S de Pagter, Katharina Steindl, Anita Rauch, Ivan Ivanovski, Kimberly McDonald, Emily Boothe, Andrew Dauber, Janice Baker, Noelle Andrea V Fabie, Raphael A Bernier, Tychele N Turner, Siddharth Srivastava, Kira A Dies, Lindsay C Swanson, Carrie Costin, Alali Abdulrazak, Rebekah K Jobling, John Pappas, Rachel Rabin, Dmitriy Niyazov, Anne Chun-Hui Tsai, Karen Kovak, David B Beck, May Christine V Malicdan, David R Adams, Lynne Wolfe, Rebecca D Ganetzky, Colleen C Muraresku, Davit Babikyan, Zdeněk Sedláček, Miroslava Hančárová, Andrew T Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, M J Hajianpour, Gregory Costain, D'Arcy Prendergast, Chumei Li, David Geneviève, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Sabir, Derek Lim, Mark J Hamilton, Lisa J Bryson, Elaine Cleary, Sacha Weber, Trevor L Hoffman, Anna M Cueto-González, Eduardo F Tizzano, David Gómez-Andrés, Marta Codina-Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah J Langas, Anne M McRae, Mathieu K Lessard, Maria Daniela D'Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B Kamphausen, Viktoria Bothe, Lorraine Potocki, Eric Olinger, Yves Sznajer, Elsa Wiame, Michelle L Thompson, Molly C Schroeder, Catherine Gooch, Raphael A Smith, Arti Pandya, Larissa M Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Clémentine Ripoll, Stéphanie Bigou, Frédéric Laumonnier, Peter W Hildebrand, Evan E Eichler, Kirsty McWalter, Peter M Krawitz, Florence Roux-Dalvai, Ype Elgersma, Julien Marcoux, Marie-Pierre Bousquet, Arnaud Droit, Jeremie Poschmann, Andreas M Grabrucker, Francois V Bolduc, Stéphane Bézieau, Frédéric Ebstein, Elke Krüger
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Journal of neurochemistry
Published

Development and Validation of an ICP-MS/MS Method for the Multielemental Analysis of Cerebrospinal Fluid, Examination of Alzheimer's Disease Samples

Authors
Rebeca Pérez-Ramírez, Inmaculada Cuchillo-Ibáñez, Raquel Sánchez-Romero, Ana Beltrán-Sanahuja, Sergio Escamilla, Ricardo Molina-Gasset, Henrik Zetterberg, Kaj Blennow, Javier Sáez-Valero, José-Luis Todolí-Torró
Development and Validation of an ICP-MS/MS Method for the Multielemental Analysis of Cerebrospinal Fluid, Examination of Alzheimer's Disease Samples
Nature neuroscience
Published

The Alzheimer's therapeutic Lecanemab attenuates Aβ pathology by inducing an amyloid-clearing program in microglia

Authors
Giulia Albertini, Magdalena Zielonka, Marie-Lynn Cuypers, An Snellinx, Ciana Xu, Suresh Poovathingal, Marta Wojno, Kristofer Davie, Veerle van Lieshout, Katleen Craessaerts, Leen Wolfs, Emanuela Pasciuto, Tom Jaspers, Katrien Horré, Lurgarde Serneels, Mark Fiers, Maarten Dewilde, Bart De Strooper
The Alzheimer's therapeutic Lecanemab attenuates Aβ pathology by inducing an amyloid-clearing program in microglia
Nature communications
Published

Multi-omic analysis reveals lipid dysregulation associated with mitochondrial dysfunction in parkinson's disease brain

Authors
Jenny Hällqvist, Christina E Toomey, Rui Pinto, Tomas Baldwin, Ivan Doykov, Anna Wernick, Mesfer Al Shahrani, James R Evans, Joanne Lachica, Simon Pope, Simon Heales, Simon Eaton, Kevin Mills, Sonia Gandhi, Wendy E Heywood
Multi-omic analysis reveals lipid dysregulation associated with mitochondrial dysfunction in parkinson's disease brain
medRxiv : the preprint server for health sciences
Published

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability

Authors
Ilaria Quartesan, Stefano Facchini, Arianna Manini, Ricardo Parolin Schnekenberg, Chiara Pisciotta, Stefania Magri, Sara Negri, Carlo Gaetano, Adriana Rebelo, Jacquelyn Schatzman Raposo, Radim Mazanec, Riccardo Curro, Natalia Dominik, Stephanie Efthymiou, Matilde Laurà, Tiffany Grider, Shawna Me Feely, Vera Fridman, Alessandro Bertini, Gustavo Maximiano Alves, Lucia Ferullo, Arianna Ghia, Claudio Caccia, Francesca Balistreri, Paola Saveri, Luca Crivellari, Isabella Moroni, Federica Rachele Danti, Tiziana Mongini, Franco Taroni, Michaela Auer-Grumbach, Enrico Bugiardini, James N Sleigh, Arianna Tucci, Henry Houlden, Petra Laššuthová, Pavel Seeman, Anna Basile, Elisa Giorgio, Michael E Shy, Stephan Zuchner, Mary M Reilly, Davide Pareyson, Andrea Cortese
Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability
medRxiv : the preprint server for health sciences
Published

Ticking Differently: Elucidating Sexual Dimorphism in Human Aging through Metabolomics, Proteomics and Genomics

Authors
Sihao Xiao, Pallavi Kaushik, Gaoyu Du, Bowen Liu, Salman B Hosawi, Benoit Hastoy, M Austin Argentieri, Laura M Winchester, Alejo J Nevado-Holgado, Rima Kaddurah-Daouk, Najaf Amin, Cornelia van Duijn
Ticking Differently: Elucidating Sexual Dimorphism in Human Aging through Metabolomics, Proteomics and Genomics
bioRxiv : the preprint server for biology
Published

Impact of Alzheimer's disease risk factors and local neuromelanin content on the transcriptomic landscape of the human locus coeruleus

Authors
Bernard Mulvey, Heena R Divecha, Madhavi Tippani, Svitlana V Bach, Rahul Bharadwaj, Ishbel Del Rosario, Sarah E Maguire, Ryan A Miller, Aaron J Salisbury, Atharv Chandra, Beau A Oster, Kelsey D Montgomery, Sang Ho Kwon, Haya A Algrain, Alexis R Papariello, Louise A Huuki-Myers, Joel E Kleinman, Leonardo Collado-Torres, Thomas M Hyde, Shizhong Han, Stephanie C Hicks, Daniel R Weinberger, Stephanie C Page, Kristen R Maynard, Keri Martinowich
Impact of Alzheimer's disease risk factors and local neuromelanin content on the transcriptomic landscape of the human locus coeruleus
Brain : a journal of neurology
Published

Cellular signatures underlying functional resilience in presymptomatic frontotemporal dementia

Authors
Kamen A Tsvetanov, Maura Malpetti, P Simon Jones, Timothy Rittman, David J Whiteside, Alexander G Murley, Richard Bethlehem, Casey Paquola, Enrico Premi, Arabella Bouzigues, Lucy L Russell, Phoebe H Foster, Eve Ferry-Bolder, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Pietro Tiraboschi, Isabel Santana, Alexander Gerhard, Johannes Levin, Sandro Sorbi, Markus Otto, Maxime Bertoux, Thibaud Lebouvier, Simon Ducharme, Chris R Butler, Isabelle Le Ber, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, Matthis Synofzik, Fermin Moreno, Barbara Borroni, Jonathan D Rohrer, James B Rowe, Genetic FTD Initiative, GENFI
Cellular signatures underlying functional resilience in presymptomatic frontotemporal dementia
medRxiv : the preprint server for health sciences
Published

P-TAU205 IS A BIOMARKER LINKED TO TAU-PET ABNORMALITY: A CROSS-SECTIONAL AND LONGITUDINAL STUDY

Authors
Juan Lantero-Rodriguez, Shorena Janelidze, Sebastian Palmqvist, Luisa Sophie Braun-Wohlfahrt, Jakub Vavra, Divya Bali, Anna Orduña Dolado, Niklas Mattsson-Carlgren, Erik Stomrud, Henrik Zetterberg, Kaj Blennow, Oskar Hansson, Laia Montoliu-Gaya, Gemma Salvadó
P-TAU205 IS A BIOMARKER LINKED TO TAU-PET ABNORMALITY: A CROSS-SECTIONAL AND LONGITUDINAL STUDY
bioRxiv : the preprint server for biology
Published

A clinical grade neurostimulation implant for hierarchical control of physiological activity

Authors
Moaad Benjaber, Mayela Zamora, Robert Toth, John E Fleming, Kei Landin, Victoria S Marks, Rachel A Crockett, Jae-Wook Ryou, Alceste Deli, Alexander L Green, Rory J Piper, Martin M Tisdall, Derk-Jan Dijk, Nicholas D Schiff, Andrew Sharott, Keith P Purpura, Jonathan L Baker, Joram J van Rheede, Timothy J Denison
A clinical grade neurostimulation implant for hierarchical control of physiological activity
medRxiv : the preprint server for health sciences
Published

DRIPS: Domain Randomisation for Image-based Perivascular spaces Segmentation

Authors
Luna Bitar, Mario Díaz, Roberto Duarte Coello, Maria D C Valdés-Hernández, Hendrik Mattern, Katja Neumann, Malte Pfister, Carolin Beck, Huy Trong Mai, Erelle Fuchs, Serena Tang, Duygu Tosun, Bianca Besteher, Tonia Rocktäschel, Philipp A Reuken, Andreas Stallmach, Nils Opel, Christian Gaser, Martin Walter, Marc Dörner, Philipp Arndt, Daniel Behme, Christiane Piechowiak, Yves Lading, Patrick Müller, Rüdiger Braun-Dullaeus, Sven G Meuth, Joanna M Wardlaw, Stefanie Schreiber, Maria Trujillo, Emrah Düzel, Gabriel Ziegler, Jose Bernal
DRIPS: Domain Randomisation for Image-based Perivascular spaces Segmentation
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Fecal short-chain fatty acids vary by sex and amyloid status

Authors
Jessamine F Kuehn, Qijun Zhang, Margo B Heston, Jea Woo Kang, Sandra J Harding, Nancy J Davenport-Sis, Darby C Peter, Robert L Kerby, Vaibhav Vemuganti, Emma C Schiffmann, Michael M Tallon, Joseph Harpt, Arun Hajra, J L Wheeler, Sushma Shankar, Alissa Mickol, Justus Zemberi, Hana Chow, Eric Zhang, Eleanor Clements, Hanna Noughani, Allison Forst, Grace Everitt, Gwendlyn Kollmorgen, Clara Quijano-Rubio, Bradley T Christian, Cynthia M Carlsson, Sterling C Johnson, Sanjay Asthana, Henrik Zetterberg, Kaj Blennow, Tyler K Ulland, Federico E Rey, Barbara B Bendlin
Fecal short-chain fatty acids vary by sex and amyloid status
BMJ open
Published

Immune Profiling in Early Cognitive Disorders (IMPRINT) study protocol: a longitudinal cohort study exploring biomarkers of inflammation in early dementia with Lewy bodies and Alzheimer's disease, as part of the Dementias Platform UK

Authors
Harry Crook, Peter Swann, Haddy Fye, Stacey Kigar, George Savulich, Anna Mckeever, Elena Herrero, Lordina Turner, Lina Aimola, Gabrielle D Grey, Dan Blackburn, Paul M Matthews, Li Su, Leonidas Chouliaras, James B Rowe, Paresh Malhotra, John T O'Brien
Immune Profiling in Early Cognitive Disorders (IMPRINT) study protocol: a longitudinal cohort study exploring biomarkers of inflammation in early dementia with Lewy bodies and Alzheimer's disease, as part of the Dementias Platform UK