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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. 

Molecular therapy. Methods & clinical development
Published

Intrathalamic delivery of adeno-associated viral vector expressing progranulin as gene therapy for GRN-related frontotemporal dementia

Authors
Youn Bok Lee, Do Young Lee, Zoe Walker, Joseph Allison, Aleksandra Kaliszewska, Alinda Fernandes, Katharine Y Zhang, Yalem Bekele, Paniz Hosseini, Romain Joubert, Joana Furtado, McQuinn Gumus, Olivier Brock, Ali Bienemann, Steven Gill, Samantha Murray, Nadia Mitchell, Page Bouchard, Alex Bloom, John Isaac, Carlos J Miranda, Christopher E Shaw
Intrathalamic delivery of adeno-associated viral vector expressing progranulin as gene therapy for GRN-related frontotemporal dementia
Brain, behavior, & immunity - health
Published

Plasma profiles of neurology-related proteins in at-risk mental state and first-episode psychosis: Associations with psychotic symptoms and cognitive performance

Authors
Martí Llaurador-Coll, Itziar Montalvo, Francesc Estrada, Vanessa Sánchez-Gistau, Henrik Zetterberg, Javier Labad, Andrea L Benedet, Elisabet Vilella
Plasma profiles of neurology-related proteins in at-risk mental state and first-episode psychosis: Associations with psychotic symptoms and cognitive performance
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 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
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
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
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
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
Communications medicine
Published

APOE ε4 potentiates tau related reactive astrogliosis assessed by cerebrospinal fluid YKL40 in Alzheimer's disease

Authors
Lydia Trudel, Joseph Therriault, Arthur C Macedo, Marcel S Woo, Nesrine Rahmouni, Étienne Aumont, Stijn Servaes, Seyyed Ali Hosseini, João Pedro Ferrari-Souza, Bruna Bellaver, Pamela L Ferreira, Tevy Chan, Yi-Ting Wang, Jaime Fernandez-Arias, Yansheng Zheng, Brandon Hall, Jenna Stevenson, Robert Hopewell, Chris Hung-Hsin Hsiao, Maxime Montembeault, Jesse Klostranec, Yasser Iturria-Medina, Paolo Vitali, Thomas K Karikari, Andrea L Benedet, Nicholas J Ashton, Eduardo Zimmer, Serge Gauthier, Tharick A Pascoal, Henrik Zetterberg, Kaj Blennow, Pedro Rosa-Neto
APOE ε4 potentiates tau related reactive astrogliosis assessed by cerebrospinal fluid YKL40 in Alzheimer's disease
Nature aging
Published

Proteogenomics in cerebrospinal fluid and plasma reveals new biological fingerprint of cerebral small vessel disease

Authors
Ilana Caro, Daniel Western, Shinichi Namba, Na Sun, Shuji Kawaguchi, Yunye He, Masashi Fujita, Gennady Roshchupkin, Tim D'Aoust, Marie-Gabrielle Duperron, Muralidharan Sargurupremraj, Ami Tsuchida, Masaru Koido, Marziehsadat Ahmadi, Chengran Yang, Jigyasha Timsina, Laura Ibanez, Koichi Matsuda, Yutaka Suzuki, Yoshiya Oda, Akinori Kanai, Pouria Jandaghi, Markus Munter, Daniel Auld, Iana Astafeva, Raquel Puerta, Jerome I Rotter, Bruce M Psaty, Joshua C Bis, W T Longstreth, Thierry Couffinhal, Pablo García-González, Vanesa Pytel, Marta Marquié, Amanda Cano, Mercè Boada, Marc Joliot, Mark Lathrop, Quentin Le Grand, Lenore J Launer, Joanna M Wardlaw, Myriam Heiman, Agustin Ruiz, Paul M Matthews, Sudha Seshadri, Myriam Fornage, Hieab Adams, Aniket Mishra, David-Alexandre Trégouët, Yukinori Okada, Manolis Kellis, Philip L De Jager, Christophe Tzourio, Yoichiro Kamatani, Fumihiko Matsuda, Carlos Cruchaga, Stéphanie Debette
Proteogenomics in cerebrospinal fluid and plasma reveals new biological fingerprint of cerebral small vessel disease
The Journal of infectious diseases
Published

Neuroaxonal Injury in Acute HIV Infection and Following Immediate Antiretroviral Therapy

Authors
Phillip Chan, Carlo Sacdalan, Suteeraporn Pinyakorn, Eugène Kroon, Donn Colby, Pathariya Promsena, Somchai Sriplienchan, Nittaya Phanuphak, Sandhya Vasan, Victor Valcour, Robert Paul, Magnus Gisslén, Henrik Zetterberg, Lydie Trautmann, Serena Spudich
Neuroaxonal Injury in Acute HIV Infection and Following Immediate Antiretroviral Therapy