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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. 

bioRxiv : the preprint server for biology
Published

Sensitivity to TDP-43 loss and degradation resistance determine cryptic exon biomarker potential

Authors
Anna-Leigh Brown, Matteo Zanovello, Alla Mikheenko, Dario Dattilo, Flaminia Pellegrini, Sam Bryce-Smith, Francesca Mattedi, Puja R Mehta, Jose Norberto S Vargas, NYGC ALS Consortium, Jack Humphrey, Matthew J Keuss, Pietro Fratta
Sensitivity to TDP-43 loss and degradation resistance determine cryptic exon biomarker potential
Brain and neuroscience advances
Published

The UK National Mouse Genetics Network: Translating genetic findings using preclinical mouse models to better understand neurodevelopmental, neuropsychiatric and neurodegenerative disorders

Authors
Sevda T Boyanova, Nicholas E Clifton, Karolina Dec, Michal M Milczarek, MURIDAE Cluster, Anthony R Isles
The UK National Mouse Genetics Network: Translating genetic findings using preclinical mouse models to better understand neurodevelopmental, neuropsychiatric and neurodegenerative disorders
bioRxiv : the preprint server for biology
Published

<em>APOE</em> E4 Alzheimer's Risk Converges on an Oligodendrocyte Subtype in the Human Entorhinal Cortex

Authors
Louise A Huuki-Myers, Heena R Divecha, Svitlana V Bach, Madeline R Valentine, Nicholas J Eagles, Bernard Mulvey, Rahul A Bharadwaj, Ruth Zhang, James R Evans, Melissa Grant-Peters, Ryan A Miller, Joel E Kleinman, Shizhong Han, Thomas M Hyde, Stephanie C Page, Daniel R Weinberger, Keri Martinowich, Mina Ryten, Kristen R Maynard, Leonardo Collado-Torres
<em>APOE</em> E4 Alzheimer's Risk Converges on an Oligodendrocyte Subtype in the Human Entorhinal Cortex
bioRxiv : the preprint server for biology
Published

Lipid droplets promote the aberrant liquid-liquid phase separation of alpha-synuclein leading to impaired energy homeostasis

Authors
Jose Cevallos, Elena Eubanks, Sunghoo Jung, Yiming Huang, Elyse Guadagno, Neeharika Rao Suvvari, Aryan Doshi, Nitya Ravinutala, Alejandro Mosera, Nagendran Ramalingam, Arati Tripathi, Tim Bartels, Ulf Dettmer, Eleanna Kara
Lipid droplets promote the aberrant liquid-liquid phase separation of alpha-synuclein leading to impaired energy homeostasis
Neuron
Published

Resolving the mysteries of brain clearance and immune surveillance.

Authors
Jonathan Kipnis, Helene Benveniste, Anne Eichmann, Jean-Leon Thomas, Daniel S Reich, Laura D Lewis, Li-Huei Tsai, Antoine Drieu, Erik N T P Bakker, Douglas H Kelley, Iben Lundgaard, Humberto Mestre, Benedikt Zott, Per Kristian Eide, Matthias J P van Osch, Susanne J van Veluw, Jeffrey Iliff, Andrew C Yang, Laura Santambrogio, Sandro Da Mesquita, Richard Daneman, Justin Rustenhoven, Steven A Goldman, Maiken Nedergaard
Resolving the mysteries of brain clearance and immune surveillance.
Molecular neurodegeneration
Published

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease

Authors
Olav M Andersen, Matthijs W J de Waal, Giulia Monti, Niccolo Tesi, Anne Mette G Jensen, Christa de Geus, Rosalina van Spaendonk, Maartje Vogel, Shahzad Ahmad, Najaf Amin, Philippe Amouyel, Gary W Beecham, Céline Bellenguez, Claudine Berr, Joshua C Bis, Anne Boland, Paola Bossù, Femke Bouwman, Jose Bras, Camille Charbonnier, Jordi Clarimon, Carlos Cruchaga, Antonio Daniele, Jean-François Dartigues, Stéphanie Debette, Jean-François Deleuze, Nicola Denning, Anita L DeStefano, Oriol Dols-Icardo, Cornelia M van Duijn, Lindsay A Farrer, Maria Victoria Fernández, Wiesje M van der Flier, Nick C Fox, Daniela Galimberti, Emmanuelle Genin, Johan J P Gille, Benjamin Grenier-Boley, Detelina Grozeva, Yann Le Guen, Rita Guerreiro, Jonathan L Haines, Clive Holmes, Holger Hummerich, M Arfan Ikram, M Kamran Ikram, Amit Kawalia, Robert Kraaij, Jean-Charles Lambert, Marc Lathrop, Afina W Lemstra, Alberto Lleó, Richard M Myers, Marcel M A M Mannens, Rachel Marshall, Eden R Martin, Carlo Masullo, Richard Mayeux, Simon Mead, Patrizia Mecocci, Alun Meggy, Merel O Mol, Benedetta Nacmias, Adam C Naj, Valerio Napolioni, J Nicholas Cochran, Gaël Nicolas, Florence Pasquier, Pau Pastor, Margaret A Pericak-Vance, Yolande A L Pijnenburg, Fabrizio Piras, Olivier Quenez, Alfredo Ramirez, Rachel Raybould, Richard Redon, Marcel J T Reinders, Anne-Claire Richard, Steffi G Riedel-Heller, Fernando Rivadeneira, Jeroen G J van Rooij, Stéphane Rousseau, Natalie S Ryan, Pascual Sanchez-Juan, Gerard D Schellenberg, Philip Scheltens, Jonathan M Schott, Sudha Seshadri, Daoud Sie, Rebecca Sims, Erik A Sistermans, Sandro Sorbi, John C van Swieten, Betty Tijms, André G Uitterlinden, Pieter Jelle Visser, Michael Wagner, David Wallon, Li-San Wang, Julie Williams, Jennifer S Yokoyama, Aline Zarea, Sven J van der Lee, Johan G Olsen, Marc Hulsman, Henne Holstege
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease
EMBO molecular medicine
Published

Prediction of continuous amyloid positron emission tomography with fluid measures of phosphorylated tau and β-amyloid

Authors
Niklas Mattsson-Carlgren, Linda Karlsson, Weizhong Tang, Kaj Blennow, Henrik Zetterberg, Randall J Bateman, Suzanne E Schindler, Nicolas Barthelemy, Sebastian Palmqvist, Erik Stomrud, Shorena Janelidze, Oskar Hansson
Prediction of continuous amyloid positron emission tomography with fluid measures of phosphorylated tau and β-amyloid
Journal of neurochemistry
Published

Clinical Validation of Novel Immunoassays for Plasma Phosphorylated Tau 217, 212, 181, 231, and Brain-Derived Tau Across the Biochemical Spectrum of Alzheimer's Disease

Authors
Maciej Dulewicz, Przemysław Radosław Kac, Fernando Gonzalez Ortiz, Thomas K Karikari, Agnieszka Kulczyńska-Przybik, Barbara Mroczko, Michael Turton, Peter Harrison, Manuel Maler, Timo Oberstein, Johannes Kornhuber, Jörg Hanrieder, Henrik Zetterberg, Kaj Blennow, Piotr Lewczuk
Clinical Validation of Novel Immunoassays for Plasma Phosphorylated Tau 217, 212, 181, 231, and Brain-Derived Tau Across the Biochemical Spectrum of Alzheimer's Disease
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Locus coeruleus-entorhinal cortex tract integrity is linked to plasma tau and glial fibrillary acidic protein

Authors
Yuliya Patsyuk, Maxime Van Egroo, Elise Beckers, Elouise A Koops, Nicholas J Ashton, Shorena Janelidze, Kaj Blennow, Oskar Hansson, Henrik Zetterberg, Benedikt A Poser, Heidi I L Jacobs
Locus coeruleus-entorhinal cortex tract integrity is linked to plasma tau and glial fibrillary acidic protein
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