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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. 

Acta Neuropathol
Published

Biallelic mutations in NRROS cause an early onset lethal microgliopathy.

Authors
Colin Smith, Barry W McColl, Anirudh Patir, Jack Barrington, Jeremy Armishaw, Antonia Clarke, Jenny Eaton, Vivienne Hobbs, Sahar Mansour, Melinda Nolan, Gillian I Rice, Mathieu P Rodero, Luis Seabra, Carolina Uggenti, John H Livingston, Leslie R Bridges, Iona J M Jeffrey, Yanick J Crow
Biallelic mutations in NRROS cause an early onset lethal microgliopathy.
Brain Commun
Published

Analysis of α-synuclein species enriched from cerebral cortex of humans with sporadic dementia with Lewy bodies.

Authors
John B Sanderson, Suman De, Haiyang Jiang, Matteo Rovere, Ming Jin, Ludovica Zaccagnini, Aurelia Hays Watson, Laura De Boni, Valentina N Lagomarsino, Tracy L Young-Pearse, Xinyue Liu, Thomas C Pochapsky, Bradley T Hyman, Dennis W Dickson, David Klenerman, Dennis J Selkoe, Tim Bartels
Analysis of α-synuclein species enriched from cerebral cortex of humans with sporadic dementia with Lewy bodies.
Nat Neurosci
Published

A tau homeostasis signature is linked with the cellular and regional vulnerability of excitatory neurons to tau pathology.

Authors
Hongjun Fu, Andrea Possenti, Rosie Freer, Yoshikazu Nakano, Nancy C Hernandez Villegas, Maoping Tang, Paula V M Cauhy, Benjamin A Lassus, Shuo Chen, Stephanie L Fowler, Helen Y Figueroa, Edward D Huey, Gail V W Johnson, Michele Vendruscolo, Karen E Duff
A tau homeostasis signature is linked with the cellular and regional vulnerability of excitatory neurons to tau pathology.
Acta Neuropathol
Published

Symmetric dimethylation of poly-GR correlates with disease duration in C9orf72 FTLD and ALS and reduces poly-GR phase separation and toxicity.

Authors
Lauren M Gittings, Steven Boeynaems, Daniel Lightwood, Alison Clargo, Sarfaraj Topia, Lisa Nakayama, Claire Troakes, David M A Mann, Aaron D Gitler, Tammaryn Lashley, Adrian M Isaacs
Symmetric dimethylation of poly-GR correlates with disease duration in C9orf72 FTLD and ALS and reduces poly-GR phase separation and toxicity.
Science
Published

Brain cell type-specific enhancer-promoter interactome maps and disease-risk association.

Authors
Alexi Nott, Inge R Holtman, Nicole G Coufal, Johannes C M Schlachetzki, Miao Yu, Rong Hu, Claudia Z Han, Monique Pena, Jiayang Xiao, Yin Wu, Zahara Keulen, Martina P Pasillas, Carolyn O'Connor, Christian K Nickl, Simon T Schafer, Zeyang Shen, Robert A Rissman, James B Brewer, David Gosselin, David D Gonda, Michael L Levy, Michael G Rosenfeld, Graham McVicker, Fred H Gage, Bing Ren, Christopher K Glass
Brain cell type-specific enhancer-promoter interactome maps and disease-risk association.
Nat Neurosci
Published

Stem-cell-derived human microglia transplanted in mouse brain to study human disease.

Authors
Renzo Mancuso, Johanna Van Den Daele, Nicola Fattorelli, Leen Wolfs, Sriram Balusu, Oliver Burton, Adrian Liston, Annerieke Sierksma, Yannick Fourne, Suresh Poovathingal, Amaia Arranz-Mendiguren, Carlo Sala Frigerio, Christel Claes, Lutgarde Serneels, Tom Theys, V Hugh Perry, Catherine Verfaillie, Mark Fiers, Bart De Strooper
Stem-cell-derived human microglia transplanted in mouse brain to study human disease.
Mol Psychiatry
Published

Familial t(1;11) translocation is associated with disruption of white matter structural integrity and oligodendrocyte-myelin dysfunction.

Authors
Navneet A Vasistha, Mandy Johnstone, Samantha K Barton, Steffen E Mayerl, Bhuvaneish Thangaraj Selvaraj, Pippa A Thomson, Owen Dando, Ellen Grünewald, Clara Alloza, Mark E Bastin, Matthew R Livesey, Kyriakos Economides, Dario Magnani, Paraskevi Makedonopolou, Karen Burr, David J Story, Douglas H R Blackwood, David J A Wyllie, Andrew M McIntosh, J Kirsty Millar, Charles Ffrench-Constant, Giles E Hardingham, Stephen M Lawrie, Siddharthan Chandran
Familial t(1;11) translocation is associated with disruption of white matter structural integrity and oligodendrocyte-myelin dysfunction.