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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. 

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.
Schizophr Res
Published

Complement system biomarkers in first episode psychosis.

Authors
Maja Kopczynska, Wioleta Zelek, Samuel Touchard, Fiona Gaughran, Marta Di Forti, Valeria Mondelli, Robin Murray, Michael C O'Donovan, B Paul Morgan
Complement system biomarkers in first episode psychosis.
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.
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

GABA and glutamate neurons in the VTA regulate sleep and wakefulness.

Authors
Xiao Yu, Wen Li, Ying Ma, Kyoko Tossell, Julia J Harris, Edward C Harding, Wei Ba, Giulia Miracca, Dan Wang, Long Li, Juan Guo, Ming Chen, Yuqi Li, Raquel Yustos, Alexei L Vyssotski, Denis Burdakov, Qianzi Yang, Hailong Dong, Nicholas P Franks, William Wisden
GABA and glutamate neurons in the VTA regulate sleep and wakefulness.
Neurobiol Aging
Published

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.

Authors
Soragia Athina Gkazi, Claire Troakes, Simon Topp, Jack W Miller, Caroline A Vance, Jemeen Sreedharan, Ammar Al-Chalabi, Janine Kirby, Pamela J Shaw, Safa Al-Sarraj, Andrew King, Bradley N Smith, Christopher E Shaw
Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.
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.
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.
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.
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.