Distinct regions of the large extracellular domain of tetraspanin CD9 are involved in the control of human multinucleated giant cell formation.

by Rachel S Hulme, Adrian Higginbottom, John Palmer, Lynda J Partridge, Peter N Monk
Published 2014-01-01

A new zebrafish model produced by TILLING of SOD1-related amyotrophic lateral sclerosis replicates key features of the disease and represents a tool for in vivo therapeutic screeni...

by Marc M. J. Da Costa, Claire E. Allen, Adrian Higginbottom, Tennore Ramesh, Pamela J. Shaw, Christopher J. McDermott
Published 2014-01-01

Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features

by Matthew P. Shaw, Adrian Higginbottom, Alexander McGown, Lydia M. Castelli, Evlyn James, Guillaume M. Hautbergue, Pamela J. Shaw, Tennore M. Ramesh
Published 2018-11-01

C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis.

by Johnathan Cooper-Knock, Joanna J Bury, Paul R Heath, Matthew Wyles, Adrian Higginbottom, Catherine Gelsthorpe, J Robin Highley, Guillaume Hautbergue, Magnus Rattray, Janine Kirby, Pamela J Shaw
Published 2015-01-01

Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits

by Saul Herranz-Martin, Jayanth Chandran, Katherine Lewis, Padraig Mulcahy, Adrian Higginbottom, Callum Walker, Isabel Martinez-Pena y Valenzuela, Ross A. Jones, Ian Coldicott, Tommaso Iannitti, Mohammed Akaaboune, Sherif F. El-Khamisy, Thomas H. Gillingwater, Pamela J. Shaw, Mimoun Azzouz
Published 2017-07-01

Translating SOD1 Gene Silencing toward the Clinic: A Highly Efficacious, Off-Target-free, and Biomarker-Supported Strategy for fALS

by Tommaso Iannitti, Joseph M. Scarrott, Shibi Likhite, Ian R.P. Coldicott, Katherine E. Lewis, Paul R. Heath, Adrian Higginbottom, Monika A. Myszczynska, Marta Milo, Guillaume M. Hautbergue, Kathrin Meyer, Brian K. Kaspar, Laura Ferraiuolo, Pamela J. Shaw, Mimoun Azzouz
Published 2018-09-01

Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation

by Claudia S. Bauer, Claudia S. Bauer, Christopher P. Webster, Christopher P. Webster, Allan C. Shaw, Allan C. Shaw, Jannigje R. Kok, Jannigje R. Kok, Lydia M. Castelli, Lydia M. Castelli, Ya-Hui Lin, Ya-Hui Lin, Emma F. Smith, Emma F. Smith, Francisco Illanes-Álvarez, Francisco Illanes-Álvarez, Adrian Higginbottom, Adrian Higginbottom, Pamela J. Shaw, Pamela J. Shaw, Mimoun Azzouz, Mimoun Azzouz, Laura Ferraiuolo, Laura Ferraiuolo, Guillaume M. Hautbergue, Guillaume M. Hautbergue, Andrew J. Grierson, Andrew J. Grierson, Kurt J. De Vos, Kurt J. De Vos
Published 2022-12-01

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

by Laura E Cox, Laura Ferraiuolo, Emily F Goodall, Paul R Heath, Adrian Higginbottom, Heather Mortiboys, Hannah C Hollinger, Judith A Hartley, Alice Brockington, Christine E Burness, Karen E Morrison, Stephen B Wharton, Andrew J Grierson, Paul G Ince, Janine Kirby, Pamela J Shaw
Published 2010-03-01

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

by Guillaume M. Hautbergue, Lydia M. Castelli, Laura Ferraiuolo, Alvaro Sanchez-Martinez, Johnathan Cooper-Knock, Adrian Higginbottom, Ya-Hui Lin, Claudia S. Bauer, Jennifer E. Dodd, Monika A. Myszczynska, Sarah M. Alam, Pierre Garneret, Jayanth S. Chandran, Evangelia Karyka, Matthew J. Stopford, Emma F. Smith, Janine Kirby, Kathrin Meyer, Brian K. Kaspar, Adrian M. Isaacs, Sherif F. El-Khamisy, Kurt J. De Vos, Ke Ning, Mimoun Azzouz, Alexander J. Whitworth, Pamela J. Shaw
Published 2017-07-01

Co-aggregation with Apolipoprotein E modulates the function of Amyloid-β in Alzheimer’s disease

by Zengjie Xia, Emily E. Prescott, Agnieszka Urbanek, Hollie E. Wareing, Marianne C. King, Anna Olerinyova, Helen Dakin, Tom Leah, Katy A. Barnes, Martyna M. Matuszyk, Eleni Dimou, Eric Hidari, Yu P. Zhang, Jeff Y. L. Lam, John S. H. Danial, Michael R. Strickland, Hong Jiang, Peter Thornton, Damian C. Crowther, Sohvi Ohtonen, Mireia Gómez-Budia, Simon M. Bell, Laura Ferraiuolo, Heather Mortiboys, Adrian Higginbottom, Stephen B. Wharton, David M. Holtzman, Tarja Malm, Rohan T. Ranasinghe, David Klenerman, Suman De
Published 2024-06-01

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype

by Johnathan Cooper-Knock, Henry Robins, Isabell Niedermoser, Matthew Wyles, Paul R. Heath, Adrian Higginbottom, Theresa Walsh, Mbombe Kazoka, Project MinE ALS Sequencing Consortium, Paul G. Ince, Guillaume M. Hautbergue, Christopher J. McDermott, Janine Kirby, Pamela J. Shaw, Ahmad Al Kheifat, Ammar Al-Chalabi, Nazli Basak, Ian Blair, Annelot Dekker, Orla Hardiman, Winston Hide, Alfredo Iacoangeli, Kevin Kenna, John Landers, Russel McLaughlin, Jonathan Mill, Bas Middelkoop, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Sara Pulit, Aleksey Shatunov, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristelvan Eijk, Michael van Es, Wouter van Rheenen, Joke van Vugt, Jan Veldink, Maarten Kooyman, Jonathan Glass, Wim Robberecht, Marc Gotkine, Vivian Drory, Matthew Kiernan, Miguel Mitne Neto, Mayana Ztaz, Philippe Couratier, Philippe Corcia, Vincenzo Silani, Adriano Chio, Mamede de Carvalho, Susana Pinto, Alberto Garcia Redondo, Peter Andersen, Markus Weber, Nicola Ticozzi
Published 2017-11-01