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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. 

Proc Natl Acad Sci U S A
Published

PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome.

Authors
Marco Spinazzi, Enrico Radaelli, Katrien Horré, Amaia M Arranz, Natalia V Gounko, Patrizia Agostinis, Teresa Mendes Maia, Francis Impens, Vanessa Alexandra Morais, Guillermo Lopez-Lluch, Lutgarde Serneels, Placido Navas, Bart De Strooper
PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome.
Nat Neurosci
Published

Human microglia regional heterogeneity and phenotypes determined by multiplexed single-cell mass cytometry.

Authors
Chotima Böttcher, Stephan Schlickeiser, Marjolein A M Sneeboer, Desiree Kunkel, Anniki Knop, Evdokia Paza, Pawel Fidzinski, Larissa Kraus, Gijsje J L Snijders, René S Kahn, Axel R Schulz, Henrik E Mei, , Elly M Hol, Britta Siegmund, Rainer Glauben, Eike J Spruth, Lot D de Witte, Josef Priller
Human microglia regional heterogeneity and phenotypes determined by multiplexed single-cell mass cytometry.
Nat Neurosci
Published

A histone acetylome-wide association study of Alzheimer's disease identifies disease-associated H3K27ac differences in the entorhinal cortex.

Authors
Sarah J Marzi, Szi Kay Leung, Teodora Ribarska, Eilis Hannon, Adam R Smith, Ehsan Pishva, Jeremie Poschmann, Karen Moore, Claire Troakes, Safa Al-Sarraj, Stephan Beck, Stuart Newman, Katie Lunnon, Leonard C Schalkwyk, Jonathan Mill
A histone acetylome-wide association study of Alzheimer's disease identifies disease-associated H3K27ac differences in the entorhinal cortex.
Science
Published

In vivo modeling of human neuron dynamics and Down syndrome.

Authors
Raquel Real, Manuel Peter, Antonio Trabalza, Shabana Khan, Mark A Smith, Joana Dopp, Samuel J Barnes, Ayiba Momoh, Alessio Strano, Emanuela Volpi, Graham Knott, Frederick J Livesey, Vincenzo De Paola
In vivo modeling of human neuron dynamics and Down syndrome.
J Neuroimmunol
Published

Inflammatory markers of CHMP2B-mediated frontotemporal dementia.

Authors
Peter Roos, Marina Rode von Essen, Troels Tolstrup Nielsen, Peter Johannsen, Jette Stokholm, Anne Sigaard Bie, Gunhild Waldemar, Anja Hviid Simonsen, Amanda Heslegrave, Henrik Zetterberg, , Finn Sellebjerg, Jørgen Erik Nielsen
Inflammatory markers of CHMP2B-mediated frontotemporal dementia.
Cell Rep
Published

The Developmental Shift of NMDA Receptor Composition Proceeds Independently of GluN2 Subunit-Specific GluN2 C-Terminal Sequences.

Authors
Sean McKay, Tomás J Ryan, Jamie McQueen, Tim Indersmitten, Katie F M Marwick, Philip Hasel, Maksym V Kopanitsa, Paul S Baxter, Marc-André Martel, Peter C Kind, David J A Wyllie, Thomas J O'Dell, Seth G N Grant, Giles E Hardingham, Noboru H Komiyama
The Developmental Shift of NMDA Receptor Composition Proceeds Independently of GluN2 Subunit-Specific GluN2 C-Terminal Sequences.
Stem Cell Reports
Published

Reproducibility of Molecular Phenotypes after Long-Term Differentiation to Human iPSC-Derived Neurons: A Multi-Site Omics Study.

Authors
Viola Volpato, James Smith, Cynthia Sandor, Janina S Ried, Anna Baud, Adam Handel, Sarah E Newey, Frank Wessely, Moustafa Attar, Emma Whiteley, Satyan Chintawar, An Verheyen, Thomas Barta, Majlinda Lako, Lyle Armstrong, Caroline Muschet, Anna Artati, Carlo Cusulin, Klaus Christensen, Christoph Patsch, Eshita Sharma, Jerome Nicod, Philip Brownjohn, Victoria Stubbs, Wendy E Heywood, Paul Gissen, Roberta De Filippis, Katharina Janssen, Peter Reinhardt, Jerzy Adamski, Ines Royaux, Pieter J Peeters, Georg C Terstappen, Martin Graf, Frederick J Livesey, Colin J Akerman, Kevin Mills, Rory Bowden, George Nicholson, Caleb Webber, M Zameel Cader, Viktor Lakics
Reproducibility of Molecular Phenotypes after Long-Term Differentiation to Human iPSC-Derived Neurons: A Multi-Site Omics Study.
Nat Genet
Published

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

Authors
Evangelos Evangelou, Helen R Warren, David Mosen-Ansorena, Borbala Mifsud, Raha Pazoki, He Gao, Georgios Ntritsos, Niki Dimou, Claudia P Cabrera, Ibrahim Karaman, Fu Liang Ng, Marina Evangelou, Katarzyna Witkowska, Evan Tzanis, Jacklyn N Hellwege, Ayush Giri, Digna R Velez Edwards, Yan V Sun, Kelly Cho, J Michael Gaziano, Peter W F Wilson, Philip S Tsao, Csaba P Kovesdy, Tonu Esko, Reedik Mägi, Lili Milani, Peter Almgren, Thibaud Boutin, Stéphanie Debette, Jun Ding, Franco Giulianini, Elizabeth G Holliday, Anne U Jackson, Ruifang Li-Gao, Wei-Yu Lin, Jian'an Luan, Massimo Mangino, Christopher Oldmeadow, Bram Peter Prins, Yong Qian, Muralidharan Sargurupremraj, Nabi Shah, Praveen Surendran, Sébastien Thériault, Niek Verweij, Sara M Willems, Jing-Hua Zhao, Philippe Amouyel, John Connell, Renée de Mutsert, Alex S F Doney, Martin Farrall, Cristina Menni, Andrew D Morris, Raymond Noordam, Guillaume Paré, Neil R Poulter, Denis C Shields, Alice Stanton, Simon Thom, Gonçalo Abecasis, Najaf Amin, Dan E Arking, Kristin L Ayers, Caterina M Barbieri, Chiara Batini, Joshua C Bis, Tineka Blake, Murielle Bochud, Michael Boehnke, Eric Boerwinkle, Dorret I Boomsma, Erwin P Bottinger, Peter S Braund, Marco Brumat, Archie Campbell, Harry Campbell, Aravinda Chakravarti, John C Chambers, Ganesh Chauhan, Marina Ciullo, Massimiliano Cocca, Francis Collins, Heather J Cordell, Gail Davies, Martin H de Borst, Eco J de Geus, Ian J Deary, Joris Deelen, Fabiola Del Greco M, Cumhur Yusuf Demirkale, Marcus Dörr, Georg B Ehret, Roberto Elosua, Stefan Enroth, A Mesut Erzurumluoglu, Teresa Ferreira, Mattias Frånberg, Oscar H Franco, Ilaria Gandin, Paolo Gasparini, Vilmantas Giedraitis, Christian Gieger, Giorgia Girotto, Anuj Goel, Alan J Gow, Vilmundur Gudnason, Xiuqing Guo, Ulf Gyllensten, Anders Hamsten, Tamara B Harris, Sarah E Harris, Catharina A Hartman, Aki S Havulinna, Andrew A Hicks, Edith Hofer, Albert Hofman, Jouke-Jan Hottenga, Jennifer E Huffman, Shih-Jen Hwang, Erik Ingelsson, Alan James, Rick Jansen, Marjo-Riitta Jarvelin, Roby Joehanes, Åsa Johansson, Andrew D Johnson, Peter K Joshi, Pekka Jousilahti, J Wouter Jukema, Antti Jula, Mika Kähönen, Sekar Kathiresan, Bernard D Keavney, Kay-Tee Khaw, Paul Knekt, Joanne Knight, Ivana Kolcic, Jaspal S Kooner, Seppo Koskinen, Kati Kristiansson, Zoltan Kutalik, Maris Laan, Marty Larson, Lenore J Launer, Benjamin Lehne, Terho Lehtimäki, David C M Liewald, Li Lin, Lars Lind, Cecilia M Lindgren, YongMei Liu, Ruth J F Loos, Lorna M Lopez, Yingchang Lu, Leo-Pekka Lyytikäinen, Anubha Mahajan, Chrysovalanto Mamasoula, Jaume Marrugat, Jonathan Marten, Yuri Milaneschi, Anna Morgan, Andrew P Morris, Alanna C Morrison, Peter J Munson, Mike A Nalls, Priyanka Nandakumar, Christopher P Nelson, Teemu Niiranen, Ilja M Nolte, Teresa Nutile, Albertine J Oldehinkel, Ben A Oostra, Paul F O'Reilly, Elin Org, Sandosh Padmanabhan, Walter Palmas, Aarno Palotie, Alison Pattie, Brenda W J H Penninx, Markus Perola, Annette Peters, Ozren Polasek, Peter P Pramstaller, Quang Tri Nguyen, Olli T Raitakari, Meixia Ren, Rainer Rettig, Kenneth Rice, Paul M Ridker, Janina S Ried, Harriëtte Riese, Samuli Ripatti, Antonietta Robino, Lynda M Rose, Jerome I Rotter, Igor Rudan, Daniela Ruggiero, Yasaman Saba, Cinzia F Sala, Veikko Salomaa, Nilesh J Samani, Antti-Pekka Sarin, Reinhold Schmidt, Helena Schmidt, Nick Shrine, David Siscovick, Albert V Smith, Harold Snieder, Siim Sõber, Rossella Sorice, John M Starr, David J Stott, David P Strachan, Rona J Strawbridge, Johan Sundström, Morris A Swertz, Kent D Taylor, Alexander Teumer, Martin D Tobin, Maciej Tomaszewski, Daniela Toniolo, Michela Traglia, Stella Trompet, Jaakko Tuomilehto, Christophe Tzourio, André G Uitterlinden, Ahmad Vaez, Peter J van der Most, Cornelia M van Duijn, Anne-Claire Vergnaud, Germaine C Verwoert, Veronique Vitart, Uwe Völker, Peter Vollenweider, Dragana Vuckovic, Hugh Watkins, Sarah H Wild, Gonneke Willemsen, James F Wilson, Alan F Wright, Jie Yao, Tatijana Zemunik, Weihua Zhang, John R Attia, Adam S Butterworth, Daniel I Chasman, David Conen, Francesco Cucca, John Danesh, Caroline Hayward, Joanna M M Howson, Markku Laakso, Edward G Lakatta, Claudia Langenberg, Olle Melander, Dennis O Mook-Kanamori, Colin N A Palmer, Lorenz Risch, Robert A Scott, Rodney J Scott, Peter Sever, Tim D Spector, Pim van der Harst, Nicholas J Wareham, Eleftheria Zeggini, Daniel Levy, Patricia B Munroe, Christopher Newton-Cheh, Morris J Brown, Andres Metspalu, Adriana M Hung, Christopher J O'Donnell, Todd L Edwards, Bruce M Psaty, Ioanna Tzoulaki, Michael R Barnes, Louise V Wain, Paul Elliott, Mark J Caulfield,
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.