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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. 

Science advances
Published
SMARCA4 regulates the NK-mediated killing of senescent cells
Authors
Virinder Reen, Mariantonietta D'Ambrosio, Pia Pernille Søgaard, Katie Tyson, Bryony J Leeke, Isabelle Clément, Isabel C A Dye, Joaquim Pombo, Adam Kuba, Yemin Lan, Joanna Burr, Ida C Bomann, Maria Kalyva, Jodie Birch, Sanjay Khadayate, George Young, Diane Provencher, Anne-Marie Mes-Masson, Santiago Vernia, Nicholas McGranahan, Hugh J M Brady, Francis Rodier, Raffaella Nativio, Michelle Percharde, Iain A McNeish, Jesús Gil
SMARCA4 regulates the NK-mediated killing of senescent cells
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published
Clinical utility of plasma p-tau217 in identifying abnormal brain amyloid burden in an Asian cohort with high prevalence of concomitant cerebrovascular disease
Authors
Joyce R Chong, Saima Hilal, Boon Yeow Tan, Narayanaswamy Venketasubramanian, Michael Schöll, Henrik Zetterberg, Kaj Blennow, Nicholas J Ashton, Christopher P Chen, Mitchell K P Lai
Clinical utility of plasma p-tau217 in identifying abnormal brain amyloid burden in an Asian cohort with high prevalence of concomitant cerebrovascular disease
medRxiv : the preprint server for health sciences
Published
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in <em>GBA1</em>
Authors
Pilar Álvarez Jerez, Peter A Wild Crea, Daniel M Ramos, Emil K Gustavsson, Mandy Radefeldt, Mary B Makarious, Oluwadamilola O Ojo, Kimberley J Billingsley, Laksh Malik, Kensuke Daida, Sarah Bromberek, Carol Hu, Zachary Schneider, Aditya L Surapaneni, Julia Stadler, Mie Rizig, Huw R Morris, Caroline B Pantazis, Hampton L Leonard, Laurel Screven, Yue A Qi, Mike A Nalls, Sara Bandres-Ciga, John Hardy, Henry Houlden, Celeste Eng, Esteban González Burchard, Linda Kachuri, Global Parkinson’s Genetics Program (GP2), Andrew B Singleton, Steffen Fischer, Peter Bauer, Xylena Reed, Mina Ryten, Christian Beetz, Michael Ward, Njideka U Okubadejo, Cornelis Blauwendraat
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in <em>GBA1</em>
Nature genetics
Published
Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes
Authors
Alexander Haglund, Verena Zuber, Maya Abouzeid, Yifei Yang, Jeong Hun Ko, Liv Wiemann, Maria Otero-Jimenez, Louwai Muhammed, Rahel Feleke, Alexi Nott, James D Mills, Liisi Laaniste, Djordje O Gveric, Daniel Clode, Ann C Babtie, Susanna Pagni, Ravishankara Bellampalli, Alyma Somani, Karina McDade, Jasper J Anink, Lucia Mesarosova, Nurun Fancy, Nanet Willumsen, Amy Smith, Johanna Jackson, Javier Alegre-Abarrategui, Eleonora Aronica, Paul M Matthews, Maria Thom, Sanjay M Sisodiya, Prashant K Srivastava, Dheeraj Malhotra, Julien Bryois, Leonardo Bottolo, Michael R Johnson
Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published
Menopausal hormone therapy is associated with worse levels of Alzheimer's disease biomarkers in APOE ε4-carrying women: An observational study
Authors
Ainara Jauregi-Zinkunegi, Carey E Gleason, Barbara Bendlin, Ozioma Okonkwo, Bruce P Hermann, Kaj Blennow, Henrik Zetterberg, Eef Hogervorst, Sterling C Johnson, Rebecca Langhough, Kimberly D Mueller, Davide Bruno
Menopausal hormone therapy is associated with worse levels of Alzheimer's disease biomarkers in APOE ε4-carrying women: An observational study
Communications medicine
Published
Consuming a modified Mediterranean ketogenic diet reverses the peripheral lipid signature of Alzheimer's disease in humans
Authors
Bryan J Neth, Kevin Huynh, Corey Giles, Tingting Wang, Natalie A Mellett, Thy Duong, Colette Blach, Leyla Schimmel, Thomas C Register, Kaj Blennow, Henrik Zetterberg, Richa Batra, Annalise Schweickart, Amanda Hazel Dilmore, Cameron Martino, Matthias Arnold, Jan Krumsiek, Xianlin Han, Pieter C Dorrestein, Rob Knight, Peter J Meikle, Suzanne Craft, Rima Kaddurah-Daouk
Consuming a modified Mediterranean ketogenic diet reverses the peripheral lipid signature of Alzheimer's disease in humans
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published
Plasma p-tau<sub>217</sub> and neurofilament/p-tau<sub>217</sub> ratio in differentiating Alzheimer's disease from syndromes associated with frontotemporal lobar degeneration
Authors
Alberto Benussi, Hanna Huber, Kübra Tan, Valentina Cantoni, Jasmine Rivolta, Maria Sofia Cotelli, Andrea L Benedet, Kaj Blennow, Henrik Zetterberg, Nicholas J Ashton, Barbara Borroni
Plasma p-tau<sub>217</sub> and neurofilament/p-tau<sub>217</sub> ratio in differentiating Alzheimer's disease from syndromes associated with frontotemporal lobar degeneration
Nature communications
Published
Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivo
Authors
Liam Kempthorne, Deniz Vaizoglu, Alexander J Cammack, Mireia Carcolé, Martha J Roberts, Alla Mikheenko, Alessia Fisher, Pacharaporn Suklai, Bhavana Muralidharan, François Kroll, Thomas G Moens, Lidia Yshii, Stijn Verschoren, Benedikt V Hölbling, Francisco C Moreira, Eszter Katona, Rachel Coneys, Paula de Oliveira, Yong-Jie Zhang, Karen Jansen, Lillian M Daughrity, Alexander McGown, Tennore M Ramesh, Ludo Van Den Bosch, Gabriele Lignani, Ahad A Rahim, Alyssa N Coyne, Leonard Petrucelli, Jason Rihel, Adrian M Isaacs
Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivo
bioRxiv : the preprint server for biology
Published
Brain maps of general cognitive function and spatial correlations with neurobiological cortical profiles
Authors
Joanna E Moodie, Colin Buchanan, Anna Furtjes, Eleanor Conole, Aleks Stolicyn, Janie Corley, Karen Ferguson, Maria Valdes Hernandez, Susana Munoz Maniega, Tom C Russ, Michelle Luciano, Heather Whalley, Mark E Bastin, Joanna Wardlaw, Ian Deary, Simon Cox
Brain maps of general cognitive function and spatial correlations with neurobiological cortical profiles