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

- Research

Genetic changes in brain cells link ageing and Alzheimer’s

Genetic differences that contribute to how long a person will live and their risk of Alzheimer’s disease have been identified in a new study led...

Learn more Genetic changes in brain cells link ageing and Alzheimer’s
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.
Neurosci Biobehav Rev
Published

Disturbances of sleep quality, timing and structure and their relationship with other neuropsychiatric symptoms in Alzheimer's disease and schizophrenia: Insights from studies in patient populations and animal models.

Authors
Raphaelle Winsky-Sommerer, Paula de Oliveira, Sally Loomis, Keith Wafford, Derk-Jan Dijk, Gary Gilmour
Disturbances of sleep quality, timing and structure and their relationship with other neuropsychiatric symptoms in Alzheimer's disease and schizophrenia: Insights from studies in patient populations and animal models.
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.