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MRC Prion Unit
From fundamental research to prevention and cure
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2015 Publications

 

Prion-mediated neurodegeneration is associated with early impairment of the ubiquitin-proteasome system.
McKinnon C, Goold R, Andre R, Devoy A, Ortega Z, Moonga J, Linehan JM, Brandner S, Lucas JJ, Collinge J, Tabrizi SJ.
Acta Neuropathol. 2015 Dec 8. [Epub ahead of print]

Preclinical detection of infectivity and disease-specific PrP in blood throughout the incubation period of prion disease.
Sawyer EB, Edgeworth JA, Thomas C, Collinge J, Jackson GS. Sci Rep. 2015 Dec 3;5:17742. doi: 10.1038/srep17742.

A systematic investigation of production of synthetic prions from recombinant prion protein.
Schmidt C, Fizet J, Properzi F, Batchelor M, Sandberg MK, Edgeworth JA, Afran L, Ho S, Badhan A, Klier S, Linehan JM, Brandner S, Hosszu LL, Tattum MH, Jat P, Clarke AR, Klöhn PC, Wadsworth JD, Jackson GS, Collinge J. Open Biol. 2015 Dec; 5(12). pii: 150165. doi: 10.1098/rsob.150165.

Evolution of Diffusion-Weighted Magnetic Resonance Imaging Signal Abnormality in Sporadic Creutzfeldt-Jakob Disease, With Histopathological Correlation.
Eisenmenger L, Porter MC, Carswell CJ, Thompson A, Mead S, Rudge P, Collinge J, Brandner S, Jäger HR, Hyare H. JAMA Neurol. 2015 Nov 16:1-9. doi: 10.1001/jamaneurol.2015.3159. [Epub ahead of print]

A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease
Gami P, Murray C, Schottlaender L, Bettencourt C, De Pablo Fernandez E, Mudanohwo E, Mizielinska S, Polke JM, Holton JL, Isaacs AM, Houlden H, Revesz T, Lashley T Acta Neuropathol. 2015 Sep 7. [2015 Oct;130(4):599-601.

G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome
Simone R, Fratta P, Neidle S, Parkinson GN, Isaacs AM. FEBS Lett. 2015 Jun 22;589(14):1653-1668.

Conformation determines the seeding potencies of native and recombinant tau aggregates
Falcon B, Cavallini A, Angers R, Glover S, Murray TK, Barnham L, Jackson S, O'Neill MJ, Isaacs AM, Hutton ML, Szekeres PG, Goedert M, Bose S J Biol Chem. 2015; 290(2):1049-65.

C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?
Mizielinska S, Isaacs AM Curr Opin Neurol. 2014; 27(5):515-23.

The cognitive profile of prion disease: a prospective clinical and imaging study
Caine D, Tinelli RJ, Hyare H, De Vita E, Lowe J, Lukic A, Thompson A, Porter M-C, Cipolotti L, Rudge P, Collinge C, Mead S. Annals Clin Trans Neurol 2015; 2 548-58.

Genome-wide association study of behavioural and psychiatric features in human prion disease
Thompson A, Uphill J, Lowe J, Porter M, Lukic A, Carswell C, Rudge P, Mackay A, Collinge J, Mead S. Translational Psychiatry. 2015 21; 5:e552.

Rare structural genetic variation in human prion diseases
Lukic A, Uphill J, Brown C, Beck J, Poulter M, Campbell T, Adamson G, Hummerich H, Whitfield J, Ponto C, Zerr I, Lloyd S, Collinge J. Neurobiology of Aging. 2015; 36 2004.e1-8.

Convergent genetic and expression data implicate immunity in Alzheimer's disease.
Jones L, Lambert J, Wang L, Choi S, Harold D, Vedernikov A, Escott-Price V, Stone T, Richards A, Bellenguez C, Ibrahim-Verbaas C, Naj A, Sims R, Gerrish A, Jun G, DeStefano A, Bis J, Beecham G, Grenier-Boley B, Russo G, Thornton-Wells T, Jones N, Smith A, Chouraki V, Thomas C, Ikram M, Zelenika D, Vardarajan B, Kamatani Y, Lin C, Schmidt H, Kunkle B, Dunstan M, Ruiz A, Bihoreau M, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick A, Buxbaum J, Campion D, Crane P, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez O, De Jager P, Deramecourt V, Johnston J, Evans D, Lovestone S, Letteneur L, Kornhuber J, Tárraga L, Rubinsztein D, Eiriksdottir G, Sleegers K, Goate A, Fiévet N, Huentelman M, Gill M, Emilsson V, Brown K, Kamboh M, Keller L, Barberger-Gateau P, McGuinness B, Larson E, Myers A, Dufouil C, Todd S, Wallon D, Love S, Kehoe P, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleò A1, Bayer A, Tsuang D, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia F, Fox N, Hardy J, Deniz Naranjo M, Razquin C, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Mrc Cfas, Moebus S, Mecocci P, Zompo MD, Maier W, Hampel H, Pilotto A, Bullido M, Panza F, Caffarra P, Nacmias B, Gilbert J, Mayhaus M, Jessen F, Dichgans M Lannfelt L, Hakonarson H, Pichler S, Carrasquillo M, Ingelsson M, Beekly D, Alavarez V, Zou F, Valladares O, Younkin S, Coto E, Hamilton-Nelson K, Mateo I, Owen M, Faber K, Jonsson P, Combarros O, O'Donovan M, Cantwell L, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett D, Harris T, Fratiglioni L, Holmes C, de Bruijn R, Passmore P, Montine T, Bettens K, Rotter J, Brice A, Morgan K, Foroud T, Kukull W, Hannequin D, Powell J, Nalls M, Ritchie K, Lunetta K, Kauwe J, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin E, Pastor P, Schmidt R, Rujescu D, Dartigues J, Mayeux R, Tzourio C, Hofman A, Nöthen M, Graff C, Psaty BM, Haines J, Lathrop M, Pericak-Vance M, Launer L, Farrer L, van Duijn C, Van Broeckhoven C, Ramirez A, Schellenberg G, Seshadri S, Amouyel P, Williams J, Holmans P. Alzheimers Dement. 2015; 11 658-71.

Identification of clinical target areas in the brainstem of prion infected mice.
Mirabile I, Jat PS, Brandner S, Collinge JNeuropathol Appl Neurolbiol. 2015; 41 613-30. 

Neuronal antibodies in patients with suspected or confirmed sporadic Creutzfeldt-Jakob disease
Rossi M, Mead S, Collinge J, Rudge P, Vincent A.J Neurol Neurosurg Psychiatry. 2015; 86 692-4.

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology
Clayton EL, Mizielinska S, Edgar JR, Nielsen TT, Marshall S, Norona FE, Robbins M, Damirji H, Holm IE, Johannsen P, Nielsen JE, Asante EA, Collinge J; FReJA consortium, Isaacs AM. Acta Neuropathol. 2015 Oct;130(4):511-23.

Dissecting Alzheimer disease in Down syndrome using mouse models
Choong, X.Y., Tosh, J.L., Fisher, E.M.C. Front. Behav. Neurosci. 9:268. doi: 10.3389/fnbeh.2015.00268

Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years
Rudge, P., Jaunmuktane, Z., Adlard, P., Bjurstrom, N., Caine, D., Lowe, J., Norsworthy, P., Hummerich, H., Druyeh, R., Wadsworth, J.D.F., Brandner, S., Hyare, H., Mead, S. and Collinge, J. Brain 138, 3386-3399.

 

Mutant Huntingtin Does Not Affect the Intrinsic Phenotype of Human Huntington's Disease T Lymphocytes
Miller JR, Träger U, Andre R, Tabrizi SJ

Characterisation of immune cell function in fragment and full-length Huntington's disease mouse models.
Träger U, Andre R, Magnusson-Lind A, Miller JR, Connolly C, Weiss A, Grueninger S, Silajdžić E, Smith DL, Leavitt BR, Bates GP, Björkqvist M, Tabrizi S

A novel Alzheimer disease locus located near the gene encoding tau protein
Jun G, Ibrahim-Verbaas C, Vronskaya M, Lambert J, Chung J, Naj A, Kunkle B, Wang L, Bis J, Bellenguez C, Harold D, Lunetta KL, Destefano A, Grenier-Boley B, Sims R, Beecham G, Smith A, Chouraki V, Hamilton-Nelson K, Ikram M, Fievet N, Denning N, Martin E, Schmidt H, Kamatani Y, Dunstan M, Valladares O, Laza A, Zelenika D, Ramirez A, Foroud T, Choi S, Boland A, Becker T, Kukull W, van der Lee S, Pasquier F, Cruchaga C, Beekly D, Fitzpatrick A, Hanon O, Gill M, Barber R, Gudnason V, Campion D, Love S, Bennett D, Amin N, Berr C, Tsolaki M, Buxbaum J, Lopez O, Deramecourt V, Fox N, Cantwell L, Tárraga L, Dufouil C, Hardy J, Crane P, Eiriksdottir G, Hannequin D, Clarke R, Evans D, Mosley T Jr, Letenneur L, Brayne C, Maier W, De Jager P, Emilsson V, Dartigues J, Hampel H, Kamboh M, de Bruijn R, Tzourio C, Pastor P, Larson E, Rotter J, O'Donovan M, Montine T, Nalls M, Mead S, Reiman E, Jonsson P, Holmes C, St George-Hyslop P, Boada M, Passmore P, Wendland J, Schmidt R, Morgan K, Winslow A, Powell J, Carasquillo M, Younkin S, Jakobsdóttir J, Kauwe J, Wilhelmsen K, Rujescu D, Nöthen M, Hofman A, Jones L; IGAP Consortium, Haines J, Psaty B, Van Broeckhoven C, Holmans P, Launer L, Mayeux R, Lathrop M, Goate A, Escott-Price V, Seshadri S, Pericak-Vance M, Amouyel P, Williams J, van Duijn C, Schellenberg G, Farrer L.Mol Psychiatry. 2015, March 17. doi: 10.1038/mp.2015.23.

Evidence for human transmission of amyloid ß pathology and cerebral amyloid angiopathy Zane Jaunmuktane, Simon Mead, Matthew Ellis, Jonathan D. F. Wadsworth, Andrew J. Nicoll, Joanna Kenny,Francesca Launchbury, Jacqueline Linehan, Angela Richard-Loendt, A. Sarah Walker, Peter Rudge, John Collinge & Sebastian Brandner

Inherited mtDNA variations are not strong risk factors in human prion disease
Gavin Hudson, James Uphill, Holger Hummerich, Janice Blevins, Pierluigi Gambetti, Inga Zerr, John Collinge, Simon Mead, Patrick F. Chinnery

Transmission Properties of Human PrP 102L Prions Challenge the Relevance of Mouse Models of GSS. Asante EA, Grimshaw A, Smidak M, Jakubcova T, Tomlinson A, Jeelani A, Hamdan S, Powell C, Joiner S, Linehan JM, Brandner S, Wadsworth JD, Collinge J

CHCHD10 Pro34Ser is not a pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia. Abdelkarim, S., Morgan, S., Plagnol, V., Adamson, G., Lu, C.-H., Howard, R., Malaspina, A., Orrell, R., Sharma, N., Sidle, K., Clarke, J., Hardy, J, Fisher, E., Rohrer, J., Mead, S., Pitman, A., Fratta, P. (2015)  Brain.

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.
Nature Reviews NeuroscienceWiseman, F.K., Fisher, E.M.C.*, Al-Janabi, T., Hardy, J., Karmiloff-Smith, A., Nizetic, D., Tybulewicz, V.L.J, Strydom, A.  (2015)

Identification of a compound which disrupts binding of amyloid-beta to the prion protein using a novel fluorescence-based assay Emmanuel Risse, Andrew J. Nicoll, William A. Taylor, Daniel Wright, Mayank Badoni, Xiaofan Yang, Mark A. Farrow and John Collinge J Biol Chem. 2015; 290 17020-8.

A novel and rapid method for obtaining high titre intact prion strains from mammalian brain  Adam Wenborn, Cassandra Terry, Natalie Gros, Susan Joiner, Laura D’Castro, Silvia Panico, Jessica Sells, Sabrina Cronier, Jacqueline M. Linehan, Sebastian Brandner, Helen R. Saibil, John Collinge & Jonathan D. F. Wadsworth

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis. Rohrer JD, Isaacs AM, Mizielinska S, Mead S, Lashley T, Wray S, Sidle K, Fratta P, Orrell RW, Hardy J, Holton J, Revesz T, Rossor MN, Warren JD. Lancet Neurol. 2015 Mar;14(3):291-301. doi: 10.1016/S1474-4422(14)70233-9. Epub 2015 Jan 29. Review. Erratum in: Lancet Neurol. 2015 Apr;14(4):350. PMID: 25638642

A naturally occurring variant of the human prion protein completely prevents prion disease   Emmanuel A. Asante, Michelle Smidak, Andrew Grimshaw1, Richard Houghton, Andrew Tomlinson, Asif Jeelani, Tatiana Jakubcova, Shyma Hamdan, Angela Richard-Londt, Jacqueline M. Linehan, Sebastian Brandner, Michael Alpers, Jerome Whitfield, Simon Mead, Jonathan D.F. Wadsworth and John Collinge

Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patients
Wild EJ, Boggio R, Langbehn D, Robertson N, Haider S, Miller JR, Zetterberg H, Leavitt BR, Kuhn R, Tabrizi SJ, Macdonald D, Weiss A.

Increased Cerebral Vascular Reactivity in the Tau Expressing rTg4510 mouse: Evidence Against the Role of Tau Pathology to Impair Vascular Health in Alzheimer’s Disease. Wells, J.A., Holmes, H.E., O’Callaghan, J.M., Colgan, N., Ismail, O., Fisher, E.M.C., Siow, B., Murray, T.K., Schwarz, A.J., O’Neill, M.J., Collins, E.C., Lythgoe, M.F. J Cereb Blood Flow Metab.35:359-62. doi: 10.1038/jcbfm.2014.224. 

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity Joyce,P.I., McGoldrick, P., Saccon, R. A., Weber, W., Fratta, P., West, S. J., Zhu, N., Carter, S., Phatak, V., Stewart, M., Simon, M., Kumar, S., Heise, I., Bros-Facer, V., Dick, J., Luong, T., Nolan, P.M., Meyer, T., Brandner, S., Bennett, D.L.H., Ozdinler, P.H.,Greensmith, L., Fisher, E.M.C Hum. Molec. Genet. 24: 1883-1897

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion
Fratta P, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, Beck J, Preza E, Devoy A, Sidle K, Howard R, Malaspina A, Orrell RW, Clarke J, Lu CH, Mok K, Collins T, Shoaii M, Nanji T, Wray S, Adamson G, Pittman A, Renton AE, Traynor BJ, Sweeney MG, Revesz T, Houlden H, Mead S, Isaacs AM, Fisher EM.C Neurobiol Aging. 36: 546.e1–546.e7