Publications by authors named "Adrian Higginbottom"

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RuvBL1/2 reduce toxic dipeptide repeat protein burden in multiple models of C9orf72-ALS/FTD.
Christopher P Webster, Bradley Hall, Olivia M Crossley, Dana Dauletalina, Marianne King, Adrian Higginbottom

Life Sci Alliance· February 2025

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A bacterial artificial chromosome mouse model of amyotrophic lateral sclerosis manifests 'space cadet syndrome' on two FVB backgrounds.
Sophie E Badger, Ian Coldicott, Ergita Kyrgiou-Balli, Adrian Higginbottom, Chloé Moutin

Dis Model Mech· February 2025

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Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47.
Jessica P Wiseman, Joseph M Scarrott, João Alves-Cruzeiro, Afshin Saffari, Cedric Böger, Adrian Higginbottom

EMBO Mol Med· November 2024

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Relationships of brain cholesterol and cholesterol biosynthetic enzymes to Alzheimer's pathology and dementia in the CFAS population-derived neuropathology cohort.
Hemant Mistry, Connor D Richardson, Adrian Higginbottom, Bridget Ashford, Saif U Ahamed

Neurosci Res· July 2024

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Co-aggregation with Apolipoprotein E modulates the function of Amyloid-β in Alzheimer's disease.
Zengjie Xia, Emily E Prescott, Agnieszka Urbanek, Hollie E Wareing, Marianne C King, Adrian Higginbottom

Nat Commun· June 2024

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A cell-penetrant peptide blocking -repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins.
Lydia M Castelli, Ya-Hui Lin, Alvaro Sanchez-Martinez, Aytaç Gül, Kamallia Mohd Imran, Adrian Higginbottom

Sci Transl Med· March 2023

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Prospects for gene replacement therapies in amyotrophic lateral sclerosis.
Ilaria Giovannelli, Adrian Higginbottom, Janine Kirby, Mimoun Azzouz, Pamela J Shaw

Nat Rev Neurol· January 2023

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Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation.
Claudia S Bauer, Christopher P Webster, Allan C Shaw, Jannigje R Kok, Lydia M Castelli, Adrian Higginbottom

Front Cell Neurosci· December 2022

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SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction.
Lara Marrone, Paolo M Marchi, Christopher P Webster, Raffaele Marroccella, Ian Coldicott, Adrian Higginbottom

Hum Mol Genet· August 2022

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Spatiotemporal Proteomic Analysis of Stress Granule Disassembly Using APEX Reveals Regulation by SUMOylation and Links to ALS Pathogenesis.
Hagai Marmor-Kollet, Aviad Siany, Nancy Kedersha, Naama Knafo, Natalia Rivkin, Adrian Higginbottom

Mol Cell· December 2020

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Oligodendrocyte pathology exceeds axonal pathology in white matter in human amyotrophic lateral sclerosis.
Alejandro Lorente Pons, Adrian Higginbottom, Johnathan Cooper-Knock, Aziza Alrafiah, Ebtisam Alofi

J Pathol· July 2020

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Astrocyte adenosine deaminase loss increases motor neuron toxicity in amyotrophic lateral sclerosis.
Scott P Allen, Benjamin Hall, Lydia M Castelli, Laura Francis, Ryan Woof, Adrian Higginbottom

Brain· March 2019

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Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis.
Johnathan Cooper-Knock, Tobias Moll, Tennore Ramesh, Lydia Castelli, Alexander Beer, Adrian Higginbottom

Cell Rep· February 2019

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Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features.
Matthew P Shaw, Adrian Higginbottom, Alexander McGown, Lydia M Castelli, Evlyn James

Acta Neuropathol Commun· November 2018

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Translating SOD1 Gene Silencing toward the Clinic: A Highly Efficacious, Off-Target-free, and Biomarker-Supported Strategy for fALS.
Tommaso Iannitti, Joseph M Scarrott, Shibi Likhite, Ian R P Coldicott, Katherine E Lewis, Adrian Higginbottom

Mol Ther Nucleic Acids· September 2018

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TDP-43 induces p53-mediated cell death of cortical progenitors and immature neurons.
Miriam A Vogt, Zahra Ehsaei, Philip Knuckles, Adrian Higginbottom, Michaela S Helmbrecht

Sci Rep· May 2018

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Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.
Johnathan Cooper-Knock, Henry Robins, Isabell Niedermoser, Matthew Wyles, Paul R Heath, Adrian Higginbottom

Front Mol Neurosci· November 2017

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C9orf72 expansion disrupts ATM-mediated chromosomal break repair.
Callum Walker, Saul Herranz-Martin, Evangelia Karyka, Chunyan Liao, Katherine Lewis, Adrian Higginbottom

Nat Neurosci· September 2017

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Viral delivery of hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits.
Saul Herranz-Martin, Jayanth Chandran, Katherine Lewis, Padraig Mulcahy, Adrian Higginbottom

Dis Model Mech· July 2017

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SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits.
Guillaume M Hautbergue, Lydia M Castelli, Laura Ferraiuolo, Alvaro Sanchez-Martinez, Johnathan Cooper-Knock, Adrian Higginbottom

Nat Commun· July 2017

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C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.
Matthew J Stopford, Adrian Higginbottom, Guillaume M Hautbergue, Johnathan Cooper-Knock, Padraig J Mulcahy

Hum Mol Genet· March 2017

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The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy.
Christopher P Webster, Emma F Smith, Claudia S Bauer, Annekathrin Moller, Guillaume M Hautbergue, Adrian Higginbottom

EMBO J· August 2016

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C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis.
Johnathan Cooper-Knock, Joanna J Bury, Paul R Heath, Matthew Wyles, Adrian Higginbottom

PLoS One· April 2016

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Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.
Joanna J Bury, J Robin Highley, Johnathan Cooper-Knock, Emily F Goodall, Adrian Higginbottom

Neuropathology· April 2016

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Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.
Johnathan Cooper-Knock, Adrian Higginbottom, Matthew J Stopford, J Robin Highley, Paul G Ince

Acta Neuropathol· July 2015

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