Items where authors include "Cooper-Knock, J."
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Harvey, C., Weinreich, M. orcid.org/0009-0003-1576-3385, Lee, J.A.K. orcid.org/0000-0001-9843-6475 et al. (22 more authors) (2024) Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis. Heliyon, 10 (3). e24975. ISSN 2405-8440
Julian, T.H., Girach, Z., Sanderson, E. et al. (5 more authors) (2023) Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study. Scientific Reports, 13. 9984. ISSN 2045-2322
Allen, S.P. orcid.org/0000-0003-4418-7375, Al Sultan, A., Kabucho Kibirige, E. et al. (13 more authors) (2023) A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations. Frontiers in Aging Neuroscience, 15. 1151848. ISSN 1663-4365
Chapman, L. orcid.org/0000-0001-6174-9435, Cooper-Knock, J. orcid.org/0000-0002-0873-8689 and Shaw, P.J. orcid.org/0000-0002-8925-2567 (2023) Physical activity as an exogenous risk factor for amyotrophic lateral sclerosis: a review of the evidence. Brain, 146 (5). pp. 1745-1757. ISSN 0006-8950
Adey, B.N., Cooper-Knock, J., Al Khleifat, A. et al. (30 more authors) (2023) Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival. Frontiers in Cellular Neuroscience, 17. 1112405. ISSN 1662-5102
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
Julian, T.H. orcid.org/0000-0002-5488-5620, Cooper-Knock, J. orcid.org/0000-0002-0873-8689, MacGregor, S. et al. (5 more authors) (2023) Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration. eLife, 12.
Al Khleifat, A., Iacoangeli, A., Jones, A.R. et al. (42 more authors) (2022) Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data. Frontiers in Cellular Neuroscience, 16. 1050596. ISSN 1662-5102
Zhang, S., Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Weimer, A.K. et al. (17 more authors) (2022) Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity. Cell Systems, 13 (8). pp. 598-614. ISSN 2405-4712
Eitan, C. orcid.org/0000-0001-6952-0336, Siany, A., Barkan, E. et al. (46 more authors) (2022) Whole-genome sequencing reveals that variants in the Interleukin 18 receptor accessory protein 3′UTR protect against ALS. Nature Neuroscience, 25 (4). pp. 433-445. ISSN 1097-6256
Boddy, S., Islam, M. orcid.org/0000-0002-2296-0120, Moll, T. et al. (17 more authors) (2022) Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis. Brain Communications, 4 (2). fcac069. ISSN 2632-1297
Zhang, S., Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Weimer, A.K. et al. (23 more authors) (2022) Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis. Neuron, 110 (6). pp. 992-1008. ISSN 0896-6273
Julian, T.H. orcid.org/0000-0002-5488-5620, Boddy, S., Islam, M. orcid.org/0000-0002-2296-0120 et al. (9 more authors) (2022) A review of Mendelian randomization in amyotrophic lateral sclerosis. Brain, 145 (3). pp. 832-842. ISSN 0006-8950
Hop, P.J. orcid.org/0000-0002-9007-7436, Zwamborn, R.A.J. orcid.org/0000-0003-3952-5042, Hannon, E. orcid.org/0000-0001-6840-072X et al. (151 more authors) (2022) Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Science Translational Medicine, 14 (633). eabj0264. ISSN 1946-6234
Al Khleifat, A., Iacoangeli, A., van Vugt, J.J.F.A. et al. (44 more authors) (2022) Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. npj Genomic Medicine, 7 (1). 8.
Cooper-Knock, J. orcid.org/0000-0002-0873-8689 (2022) Implications of confirmed de novo pathogenic SOD1 mutations. Journal of Neurology, Neurosurgery and Psychiatry, 93 (2). 118. ISSN 0022-3050
Moll, T., Marshall, J.N.G., Soni, N. et al. (3 more authors) (2021) Membrane lipid raft homeostasis is directly linked to neurodegeneration. Essays in Biochemistry, 65 (7). pp. 999-1011. ISSN 0071-1365
Gilley, J., Jackson, O., Pipis, M. et al. (19 more authors) (2021) Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders. eLife, 10. e70905. ISSN 2050-084X
Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Harvey, C. orcid.org/0000-0001-5033-9385, Zhang, S. et al. (5 more authors) (2021) Advances in the genetic classification of amyotrophic lateral sclerosis. Current Opinion in Neurology, 34 (5). pp. 756-764. ISSN 1350-7540
Julian, T.H. orcid.org/0000-0002-5488-5620, Glascow, N., Barry, A.D.F. et al. (8 more authors) (2021) Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes. EBioMedicine, 68. 103397. ISSN 2352-3964
Shepheard, S.R., Parker, M.D. orcid.org/0000-0003-2999-3870, Cooper-Knock, J. orcid.org/0000-0002-0873-8689 et al. (15 more authors) (2021) Value of systematic genetic screening of patients with amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery & Psychiatry, 92 (5). pp. 510-518. ISSN 0022-3050
Boddy, S.L., Giovannelli, I., Sassani, M. orcid.org/0000-0002-0384-7296 et al. (7 more authors) (2021) The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS). BMC Medicine, 19 (1). 13. ISSN 1741-7015
Ghahremani Nezhad, H., Franklin, J.P., Alix, J.J.P. orcid.org/0000-0001-8391-9749 et al. (10 more authors) (2020) Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22 (7-8). pp. 579-582. ISSN 2167-8421
Crooks, L., Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Heath, P.R. et al. (8 more authors) (2020) Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing. BMC Genetics, 21 (1). 111.
Fadul, M.M. orcid.org/0000-0002-2208-9988, Heath, P.R., Cooper-Knock, J. orcid.org/0000-0002-0873-8689 et al. (8 more authors) (2020) Transcriptomic analysis of age-associated periventricular lesions reveals dysregulation of the immune response. International Journal of Molecular Sciences, 21 (21). 7924. ISSN 1661-6596
Franklin, J.P., Cooper-Knock, J., Baheerathan, A. et al. (6 more authors) (2020) Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21 (7-8). pp. 627-630. ISSN 2167-8421
Ranganathan, R., Haque, S., Coley, K. et al. (3 more authors) (2020) Multifaceted genes in amyotrophic lateral sclerosis-frontotemporal dementia. Frontiers in Neuroscience, 14. 684. ISSN 1662-4548
Moll, T., Shaw, P.J. orcid.org/0000-0002-8925-2567 and Cooper-Knock, J. orcid.org/0000-0002-0873-8689 (2020) Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration. Brain, 143 (5). pp. 1332-1340. ISSN 0006-8950
Goodall, E.F., Leach, V., Wang, C. et al. (8 more authors) (2019) Age-associated mRNA and miRNA expression changes in the blood-brain barrier. International Journal of Molecular Sciences, 20 (12). 3097. ISSN 1661-6596
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
Abu-Duhier, F., Pooranachandran, V., McDonagh, A.J.G. et al. (5 more authors) (2018) Whole genome sequencing in an acrodermatitis enteropathica family from the Middle East. Dermatology Research and Practice, 2018. 1284568. ISSN 1687-6105
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
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).
Waller, R. orcid.org/0000-0001-5815-8829, Goodall, E.F., Milo, M. et al. (8 more authors) (2017) Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS). Neurobiology of Aging, 55. pp. 123-131. ISSN 0197-4580
Cooper-Knock, J., Green, C., Altschuler, G. et al. (14 more authors) (2017) A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis. Acta Neuropathologica Communications, 5. 23. ISSN 2051-5960
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
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
Beer, A.M., Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Fletcher, S. et al. (3 more authors) (2016) Case report of concurrent Fabry disease and amyotrophic lateral sclerosis supports a common pathway of pathogenesis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17 (7-8). pp. 614-616. ISSN 2167-8421
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
Highley, J.R., Lorente Pons, A., Cooper-Knock, J. et al. (5 more authors) (2015) Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate length CAG repeat expansions in Ataxin-2 does not have 1C2-positive polyglutamine inclusions. Neuropathology and Applied Neurobiology. 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
Cooper-Knock, J., Kirby, J., Highley, R. et al. (1 more author) (2015) The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis. Neurotherapeutics, 12 (2). pp. 326-339. ISSN 1933-7213
Walsh, M.J., Cooper-Knock, J., Dodd, J.E. et al. (5 more authors) (2015) Invited Review: Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art. Neuropathology and Applied Neurobiology, 41 (2). pp. 109-134. ISSN 0305-1846
Peters, O.M., Shelkovnikova, T., Highley, J.R. et al. (5 more authors) (2015) Gamma-synuclein pathology in amyotrophic lateral sclerosis. Annals of Clinical and Translational Neurology, 2 (1). 29 - 37. ISSN 2328-9503
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
Green, N.H., Nicholls, Z., Heath, P.R. et al. (4 more authors) (2014) Pulsatile exposure to simulated reflux leads to changes in gene expression in a 3D model of oesophageal mucosa. International Journal of Experimental Pathology, 95 (3). 216 - 228. ISSN 0959-9673
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
Gallagher, M. D., Suh, E., Grossman, M. et al. (73 more authors) (2014) TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathologica, 127 (3). pp. 407-418. ISSN 0001-6322
Cooper-Knock, J., Shaw, P.J. and Kirby, J. (2014) The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype. Acta Neuropathologica, 127 (3). pp. 333-345. ISSN 0001-6322
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
Proceedings Paper
Pons, A.L., Shaw, P.J. orcid.org/0000-0002-8925-2567, Ince, P.G. et al. (5 more authors) (2016) Investigating the Mechanisms Underlying Oligodendrocyte Dysfunction in C9ORF72 ALS. In: Journal of Pathology. 9th Joint Meeting of the British Division of the International Academy of Pathology and the Pathological Society of Great Britain & Ireland, 28/6/2016 - 1/7/2016, Nottingham, UK. Wiley , S13-S13.
Lorente-Pons, A., Wood, J.D., Shaw, P.J. orcid.org/0000-0002-8925-2567 et al. (5 more authors) (2016) Investigating the mechanisms underlying oligodendrocyte dysfunction in C9ORF72 ALS. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. 117th meeting of the British Neuropathological Society, 2–4 March 2016, Royal College of Physicians, London. Wiley , p. 28.
Preprint
Yonchev, I.D. orcid.org/0000-0001-8486-7362, Apostol, C.V. orcid.org/0000-0002-2309-7285, Griffith, L. orcid.org/0009-0008-0223-8895 et al. (13 more authors) (2023) hnRNPUL1 ensures efficient Integrator-mediated cleavage of snRNAs and is mutated in amyotrophic lateral sclerosis. [Preprint] (Submitted)