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

man sitting on bed at night
- Research

Sleep problems could double risk of dementia in later life

People who experience sleep disorders are at greater risk of developing dementia and other neurodegenerative conditions later in life, new research led by Prof Valentina...

Learn more Sleep problems could double risk of dementia in later life
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

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.