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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. 

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.
Alzheimers Res Ther
Published

Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup.

Authors
Ione O C Woollacott, Jennifer M Nicholas, Amanda Heslegrave, Carolin Heller, Martha S Foiani, Katrina M Dick, Lucy L Russell, Ross W Paterson, Ashvini Keshavan, Nick C Fox, Jason D Warren, Jonathan M Schott, Henrik Zetterberg, Jonathan D Rohrer
Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup.
Brain
Published

Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP.

Authors
Frances K Wiseman, Laura J Pulford, Chris Barkus, Fan Liao, Erik Portelius, Robin Webb, Lucia Chávez-Gutiérrez, Karen Cleverley, Sue Noy, Olivia Sheppard, Toby Collins, Caroline Powell, Claire J Sarell, Matthew Rickman, Xun Choong, Justin L Tosh, Carlos Siganporia, Heather T Whittaker, Floy Stewart, Maria Szaruga, , Michael P Murphy, Kaj Blennow, Bart de Strooper, Henrik Zetterberg, David Bannerman, David M Holtzman, Victor L J Tybulewicz, Elizabeth M C Fisher,
Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP.
Neurobiol Aging
Published

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.

Authors
Martina de Majo, Simon D Topp, Bradley N Smith, Agnes L Nishimura, Han-Jou Chen, Athina Soragia Gkazi, Jack Miller, Chun Hao Wong, Caroline Vance, Frank Baas, Anneloor L M A Ten Asbroek, Kevin P Kenna, Nicola Ticozzi, Alberto Garcia Redondo, Jesús Esteban-Pérez, Cinzia Tiloca, Federico Verde, Stefano Duga, Karen E Morrison, Pamela J Shaw, Janine Kirby, Martin R Turner, Kevin Talbot, Orla Hardiman, Jonathan D Glass, Jacqueline de Belleroche, Cinzia Gellera, Antonia Ratti, Ammar Al-Chalabi, Robert H Brown, Vincenzo Silani, John E Landers, Christopher E Shaw
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.
Cell Rep
Published

CaMKII Metaplasticity Drives Aβ Oligomer-Mediated Synaptotoxicity.

Authors
Patricio Opazo, Silvia Viana da Silva, Mario Carta, Christelle Breillat, Steven J Coultrap, Dolors Grillo-Bosch, Matthieu Sainlos, Françoise Coussen, K Ulrich Bayer, Christophe Mulle, Daniel Choquet
CaMKII Metaplasticity Drives Aβ Oligomer-Mediated Synaptotoxicity.
Am J Psychiatry
Published

Analysis of DNA Methylation in Young People: Limited Evidence for an Association Between Victimization Stress and Epigenetic Variation in Blood.

Authors
Sarah J Marzi, Karen Sugden, Louise Arseneault, Daniel W Belsky, Joe Burrage, David L Corcoran, Andrea Danese, Helen L Fisher, Eilis Hannon, Terrie E Moffitt, Candice L Odgers, Carmine Pariante, Richie Poulton, Benjamin S Williams, Chloe C Y Wong, Jonathan Mill, Avshalom Caspi
Analysis of DNA Methylation in Young People: Limited Evidence for an Association Between Victimization Stress and Epigenetic Variation in Blood.
Nat Genet
Published

Genetic identification of brain cell types underlying schizophrenia.

Authors
Nathan G Skene, Julien Bryois, Trygve E Bakken, Gerome Breen, James J Crowley, Héléna A Gaspar, Paola Giusti-Rodriguez, Rebecca D Hodge, Jeremy A Miller, Ana B Muñoz-Manchado, Michael C O'Donovan, Michael J Owen, Antonio F Pardiñas, Jesper Ryge, James T R Walters, Sten Linnarsson, Ed S Lein, , Patrick F Sullivan, Jens Hjerling-Leffler
Genetic identification of brain cell types underlying schizophrenia.
Nat Commun
Published

Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome.

Authors
Gabriel Balmus, Delphine Larrieu, Ana C Barros, Casey Collins, Monica Abrudan, Mukerrem Demir, Nicola J Geisler, Christopher J Lelliott, Jacqueline K White, Natasha A Karp, James Atkinson, Andrea Kirton, Matt Jacobsen, Dean Clift, Raphael Rodriguez, , David J Adams, Stephen P Jackson
Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome.
Acta Neuropathol
Published

Activin receptors regulate the oligodendrocyte lineage in health and disease.

Authors
Alessandra Dillenburg, Graeme Ireland, Rebecca K Holloway, Claire L Davies, Frances L Evans, Matthew Swire, Marie E Bechler, Daniel Soong, Tracy J Yuen, Gloria H Su, Julie-Clare Becher, Colin Smith, Anna Williams, Veronique E Miron
Activin receptors regulate the oligodendrocyte lineage in health and disease.