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. 

Featured

Mol Cell
Published

The Solution Structure of FUS Bound to RNA Reveals a Bipartite Mode of RNA Recognition with Both Sequence and Shape Specificity.

Authors
Fionna E Loughlin, Peter J Lukavsky, Tamara Kazeeva, Stefan Reber, Eva-Maria Hock, Martino Colombo, Christine Von Schroetter, Phillip Pauli, Antoine Cléry, Oliver Mühlemann, Magdalini Polymenidou, Marc-David Ruepp, Frédéric H-T Allain
The Solution Structure of FUS Bound to RNA Reveals a Bipartite Mode of RNA Recognition with Both Sequence and Shape Specificity.
Science
Published

Secreted amyloid-β precursor protein functions as a GABABR1a ligand to modulate synaptic transmission.

Authors
Heather C Rice, Daniel de Malmazet, An Schreurs, Samuel Frere, Inge Van Molle, Alexander N Volkov, Eline Creemers, Irena Vertkin, Julie Nys, Fanomezana M Ranaivoson, Davide Comoletti, Jeffrey N Savas, Han Remaut, Detlef Balschun, Keimpe D Wierda, Inna Slutsky, Karl Farrow, Bart De Strooper, Joris de Wit
Secreted amyloid-β precursor protein functions as a GABABR1a ligand to modulate synaptic transmission.
Nat Commun
Published

ATM orchestrates the DNA-damage response to counter toxic non-homologous end-joining at broken replication forks.

Authors
Gabriel Balmus, Domenic Pilger, Julia Coates, Mukerrem Demir, Matylda Sczaniecka-Clift, Ana C Barros, Michael Woods, Beiyuan Fu, Fengtang Yang, Elisabeth Chen, Matthias Ostermaier, Tatjana Stankovic, Hannes Ponstingl, Mareike Herzog, Kosuke Yusa, Francisco Munoz Martinez, Stephen T Durant, Yaron Galanty, Petra Beli, David J Adams, Allan Bradley, Emmanouil Metzakopian, Josep V Forment, Stephen P Jackson
ATM orchestrates the DNA-damage response to counter toxic non-homologous end-joining at broken replication forks.
Cell Stem Cell
Published

Single-Cell Sequencing of iPSC-Dopamine Neurons Reconstructs Disease Progression and Identifies HDAC4 as a Regulator of Parkinson Cell Phenotypes.

Authors
Charmaine Lang, Kieran R Campbell, Brent J Ryan, Phillippa Carling, Moustafa Attar, Jane Vowles, Olga V Perestenko, Rory Bowden, Fahd Baig, Meike Kasten, Michele T Hu, Sally A Cowley, Caleb Webber, Richard Wade-Martins
Single-Cell Sequencing of iPSC-Dopamine Neurons Reconstructs Disease Progression and Identifies HDAC4 as a Regulator of Parkinson Cell Phenotypes.
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

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.