Items where authors include "Higginbottom, A."

Article

Castelli, L.M., Lin, Y.-H., Sanchez-Martinez, A. et al. (19 more authors) (2023) A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins. Science Translational Medicine, 15 (685). ISSN 1946-6234

Bauer, C.S., Webster, C.P., Shaw, A.C. et al. (12 more authors) (2022) Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation. Frontiers in Cellular Neuroscience, 16. 1061559. ISSN 1662-5102

Marrone, L., Marchi, P.M. orcid.org/0000-0002-8893-3790, Webster, C.P. orcid.org/0000-0003-4197-2036 et al. (11 more authors) (2022) SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction. Human Molecular Genetics, 31 (16). pp. 2693-2710. ISSN 0964-6906

Lorente Pons, A., Higginbottom, A. orcid.org/0000-0002-3246-6695, Cooper‐Knock, J. et al. (6 more authors) (2020) Oligodendrocyte pathology exceeds axonal pathology in white matter in human amyotrophic lateral sclerosis. The Journal of Pathology, 251 (3). pp. 262-271. ISSN 0022-3417

Allen, S., Hall, B., Castelli, L. et al. (19 more authors) (2019) Astrocyte adenosine deaminase loss increases motor neuron toxicity in amyotrophic lateral sclerosis. Brain, 142 (3). pp. 586-605. ISSN 0006-8950

Cooper-Knock, J., Moll, T., Ramesh, T. et al. (26 more authors) (2019) Mutations in the glycosyltransferase domain of GLT8D1 are associated with familial amyotrophic lateral sclerosis. Cell Reports, 26 (9). 2298-2306.e5. ISSN 2211-1247

Shaw, M.P., Higginbottom, A. orcid.org/0000-0002-3246-6695, McGown, A. et al. (5 more authors) (2018) Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features. Acta Neuropathologica Communications, 6 (1). 125. ISSN 2051-5960

Iannitti, T., Scarrott, J., Likhite, S. et al. (12 more authors) (2018) Translating SOD1 gene silencing towards the clinic: A highly efficacious, off-target free and biomarker-supported strategy for familial ALS. Molecular Therapy : Nucleic Acids, 12. pp. 75-88. ISSN 2162-2531

Vogt, M.A., Ehsaei, Z., Knuckles, P. et al. (10 more authors) (2018) TDP-43 induces p53-mediated cell death of cortical progenitors and immature neurons. Scientific Reports, 8 (1). 8097. ISSN 2045-2322

Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Robins, H., Niedermoser, I. et al. (11 more authors) (2017) Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype. Frontiers in Molecular Neuroscience , 10. 370. ISSN 1662-5099

Walker, C., Herranz-Martin, S., Karyka, E. et al. (19 more authors) (2017) C9orf72 Expansion Disrupts ATM-mediated Chromosomal Break Repair. Nature Neuroscience, 20 (9). pp. 1225-1235. ISSN 1097-6256

Hautbergue, G.M. orcid.org/0000-0002-1621-261X, Castelli, L.M., Ferraiuolo, L. et al. (23 more authors) (2017) SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits. Nature Communications, 8. 16063 (2017).

Herranz-Martin, S., Chandran, J. orcid.org/0000-0002-3486-8583, Lewis, K. et al. (12 more authors) (2017) Viral delivery of C9ORF72 hexanucleotide repeat expansions in mice lead to repeat length dependent neuropathology and behavioral deficits. Disease Models and Mechanisms. ISSN 1754-8403

Stopford, M.J., Higginbottom, A., Hautbergue, G.M. et al. (14 more authors) (2017) C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten. Human Molecular Genetics, 26 (6). pp. 1133-1145. ISSN 0964-6906

Webster, C.P., Smith, E.F., Bauer, C.S. et al. (12 more authors) (2016) The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy. EMBO Journal, 35 (15). pp. 1656-1676.

Higginbottom, A. (2016) The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy. EMBO Journal. ISSN 0261-4189

Bury, J.J., Highley, J.R., Cooper-Knock, J. et al. (6 more authors) (2016) Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS. Neuropathology , 36 (2). pp. 125-134. ISSN 0919-6544

Cooper-Knock, J., Higginbottom, A., Stopford, M.J. et al. (7 more authors) (2015) Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy. Acta Neuropathologica, 130 (1). pp. 63-75. ISSN 0001-6322

Simpson, J.E., Ince, P.G., Matthews, F.E. et al. (7 more authors) (2015) A neuronal DNA damage response is detected at the earliest stages of Alzheimer's neuropathology and correlates with cognitive impairment in the Medical Research Council's Cognitive Function and Ageing Study ageing brain cohort. Neuropathology and Applied Neurobiology, 41 (4). pp. 483-496. ISSN 0305-1846

Cooper-Knock, J., Bury, J.J., Heath, P.R. et al. (8 more authors) (2015) C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis. PLoS One, 10 (5). e0127376 . ISSN 1932-6203

Hulme, R. S., Higginbottom, A., Palmer, J. et al. (2 more authors) (2014) Distinct Regions of the Large Extracellular Domain of Tetraspanin CD9 Are Involved in the Control of Human Multinucleated Giant Cell Formation. PLoS ONE, 9 (12). e116289. ISSN 1932-6203

Beer, A.M., Cooper-Knock, J., Higginbottom, A. et al. (8 more authors) (2014) Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16 (3-4). pp. 249-251. ISSN 2167-8421

Cooper-Knock, J., Walsh, M.J., Higginbottom, A. et al. (9 more authors) (2014) Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions. Brain, 137. 2040 - 2051. ISSN 0006-8950

Yang, D-J., Wang, X-L., Ismail, A. et al. (10 more authors) (2014) PTEN regulates AMPA receptor-mediated cell viability in iPS-derived motor neurons. Cell Death and Disease, 5. e1096. ISSN 2041-4889

Buchman, V.L., Cooper-Knock, J., Connor-Robson, N. et al. (5 more authors) (2013) Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation. Molecular Neurodegeneration, 8. 12. ISSN 1750-1326

Cox, L.E., Ferraiuolo, L., Goodall, E.F. et al. (13 more authors) (2010) Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). Plos One, 5 (3). Art no.e9872. ISSN 1932-6203

Proceedings Paper

Allen, S.P., Hall, B., Castelli, L. orcid.org/0000-0003-3620-4219 et al. (11 more authors) (2018) Inosine reverses motor neuron toxicity observed in amyotrophic lateral sclerosis patient astrocytes with an adenosine deaminase deficiency. In: Biochimica et Biophysica Acta (BBA) - Bioenergetics. 20th European Bioenergetics Conference, 25-30 Aug 2018, Budapest, Hungary. Elsevier BV , e23-e23.