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MRC Prion Unit
From fundamental research to prevention and cure
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2011 Publications

Molecular pathology of human prion disease
Wadsworth JDF, Collinge J. Acta Neuropathol 2011; 121: 69-77.

Genetics of prion disease
Lloyd S, Mead S, Collinge J.  Top Curr Chem 2011; 305: 1-22.

Sex effects in mouse prion disease incubation time
Akhtar S, Wenborn A, Brandner S, Collinge J, Lloyd SE. PLoS One 2011; 6: e28741.

No evidence that extended tracts of homozygosity are associated with Alzheimer's disease.
Sims R, Dwyer S, Harold D, Gerrish A, Hollingworth P, Chapman J, Jones N, Abraham R, Ivanov D, Pahwa JS, Moskvina V, Dowzell K, Thomas C, Stretton A, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuiness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Livingston G, Bass NJ, Gurling H, McQuillin A, Jones L, Holmans PA, O'Donovan M, Owen MJ, Williams J.  Am J Med Genet B Neuropsychiatr Genet 2011; 156B: 764-71.

Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry
Deriziotis P, André R, Smith DM, Goold R, Kinghorn KJ, Kristiansen M, Nathan JA, Rosenzweig R, Krutauz D, Glickman MH, Collinge J, Goldberg AL, Tabrizi SJ.  EMBO J 2011; 30: 3065-77.

PRION-1 scales analysis supports use of functional outcome measures in prion disease
Mead S, Ranopa M, Gopalakrishnan GS, Thompson A, Rudge P, Wroe S, Kennedy A, Hudson F, Mackay A, Darbyshire J, Collinge J, Walker S.  Neurology 2011; 77: 1674-83.

Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors
Kaski DN, Pennington C, Beck J, Poulter M, Uphill J, Bishop MT, Linehan JM, O'Malley C, Wadsworth JDF, Joiner S, Knight RSG, Ironside JW, Brandner S, Collinge J, Mead S.  Brain 2011; 134: 1829-1838.

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Rüther E, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Gallacher J, Hüll M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC; the Alzheimer's Disease Neuroimaging Initiative, van Duijn CM, Breteler MM, Ikram MA, Destefano AL, Fitzpatrick AL, Lopez O, Launer LJ, Seshadri S; CHARGE consortium, Berr C, Campion D, Epelbaum J, Dartigues JF, Tzourio C, Alpérovitch A, Lathrop M; EADI1 consortium, Feulner TM, Friedrich P, Riehle C, Krawczak M, Schreiber S, Mayhaus M, Nicolhaus S, Wagenpfeil S, Steinberg S, Stefansson H, Stefansson K, Snædal J, Björnsson S, Jonsson PV, Chouraki V, Genier-Boley B, Hiltunen M, Soininen H, Combarros O, Zelenika D, Delepine M, Bullido MJ, Pasquier F, Mateo I, Frank-Garcia A, Porcellini E, Hanon O, Coto E, Alvarez V, Bosco P, Siciliano G, Mancuso M, Panza F, Solfrizzi V, Nacmias B, Sorbi S, Bossù P, Piccardi P, Arosio B, Annoni G, Seripa D, Pilotto A, Scarpini E, Galimberti D, Brice A, Hannequin D, Licastro F, Jones L, Holmans PA, Jonsson T, Riemenschneider M, Morgan K, Younkin SG, Owen MJ, O'Donovan M, Amouyel P, Williams J.  Nat Genet 2011; 43: 429-435.

No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration.
Rollinson S, Rohrer JD, van der Zee J, Sleegers K, Mead S, Engelborghs S, Collinge J, De Deyn P, Mann D, Van Broeckhoven C, Pickering-Brown S. Neurobiol Aging 2011; 32: 754-5.

Rapid cell-surface prion protein conversion revealed using a novel cell system
Goold R, Rabbanian S, Sutton L, Andre R, Arora P, Moonga J, Clarke AR, Schiavo G, Jat P, Collinge J, Tabrizi SJ. Nat Commun 2011; 2: 281.

Interaction between cellular prion protein and toxic Aβ oligomers can be therapeutically targeted at multiple sites
Freir DB, Nicoll AJ, Klyubin I, Panico S, Mc Donald JM, Risse E, Asante EA, Farrow -MA, Sessions RB, Saibil HR, Clarke AR, Rowan MJ, Walsh DM Collinge J. Nat Commun 2011; 2: 336

A novel exon 2 VCP variant is associated with dissimilar clinical :syndromes.
Rohrer JD, Warren JD, Reiman D, Uphill J, Beck J, Collinge J, Rossor MN, Isaacs AM, Mead S.
J Neurol 2011; 258: 1494-6.

Comment on validation of diagnostic criteria for variant Creutzfeldt-Jakob disease
Lukic A, Mead S, Rudge P, Collinge J.  Ann Neurol 2011; 69: 212.

Detection of prion infection in variant Creutzfeldt-Jakob disease: a blood-based assay.
Edgeworth JA, Farmer M, Sicilia A, Tavares P, Beck J, Campbell T, Lowe J, Mead S, Rudge P, Collinge J, Jackson GS. Lancet 2011; 377: 487-93.

Familial Alzheimer’s disease and inherited prion disease in the UK are poorly ascertained
Stevens JC, Beck J, Lukic A, Ryan N, Abbs S, Collinge J, Fox NC, Mead S. J Neurol Neurosurg Psychiatry 2011; 82: 1054-1057.

Tau, prions and Aβ: The triad of neurodegeneration
Reiniger L, Lukic A, Linehan J, Rudge P, Collinge J, Mead S, Brandner S.  Acta Neuropathol 2011; 121: 5- 20.

Threshold for epileptiform activity is elevated in prion knockout mice
Ratte S, Vreugdenhil M, Boult JK, Patel A, Asante EA, Collinge J, Jefferys JG. 
Neuroscience 2011; 179: 56-61.

Effect of fixation on brain and lymphoreticular vCJD prions and bioassay of key positive specimens from a retrospective vCJD prevalence study
Wadsworth JDF, Dalmau-Mena I, Joiner S, Linehan J, O'Malley C, Powell C, Brandner S, Asante EA, Ironside JW, Hilton DA, Collinge J.  J Pathol 2011; 223: 511-8.

Prion propagation and toxicity in vivo occur in two distinct mechanistic phases
Sandberg MK, Al-Doujaily H, Sharps B, Clarke AR, Collinge J.  Nature 2011; 470: 540-2.

Standardised comparison of commercially available prion decontamination reagents using the standard Steel Binding Assay
Edgeworth JA, Sicilia A, Linehan J, Brandner S, Jackson GS, Collinge J.  J Gen Virol 2011; 92: 718-26.

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration
Rohrer JD, Lashley T, Schott JM, Warren JE, Mead S, Isaacs AM, Beck J, Hardy J, de Silva R, Warrington E, Troakes C, Al-Sarraj S, King A, Borroni B, Clarkson MJ, Ourselin S, Holton JL, Fox NC, Revesz T, Rossor MN, Warren JD. Brain 2011; 134: 2565-81.

Activation of nuclear factor-kappa B signalling promotes cellular senescence
Rovillain E, Mansfield L, Caetano C, Alvarez-Fernandez M, Caballero OL, Medema  RH, Hummerich H, Jat PS.Oncogene 2011; 30: 2356-66.

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina
Sergouniotis PI, Davidson AE, Mackay DS, Lenassi E, Li Z, Robson AG, Yang X, Kam JH, Isaacs TW, Holder GE, Jeffery G, Beck JA, Moore AT, Plagnol V, Webster AR.  Am J Hum Genet 2011; 89: 782-91.

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis.
Rollinson S, Mead S, Snowden J, Richardson A, Rohrer J, Halliwell N, Usher S, Neary D, Mann D, Hardy J, Pickering-Brown S. Neurobiol Aging 2011; 32: 758.e1-7.

prions and Aβ: the triad of neurodegeneration
Reiniger L, Lukic A, Linehan J, Rudge P, Collinge J, Mead S, Brandner S. Tau,  Acta Neuropathol 2011; 121: 5- 20.

Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease
Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Peters O, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Rüther E, Carrasquillo MM, Pankratz VS, Younkin SG, Hardy J, O'Donovan MC, Owen MJ, Williams J. PLoS One 2010; 5: e13950. Erratum in: PLoS One 2011; 6.

Alzheimer's disease and inherited prion disease in the UK are poorly ascertained
Stevens JC, Beck J, Lukic A, Ryan N, Abbs S, Collinge J, Fox NC, Mead S. Familial . J Neurol Neurosurg Psychiatry 2011; 82: 1054-7.