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MRC Prion Unit
From fundamental research to prevention and cure
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2009 Publications

Preventing prion pathogenicity by targeting the cellular prion protein
Nicoll AJ, Collinge J. Infect Disord Drug Targets 2009; 9: 48-57.

The role of CHMP2B in frontotemporal dementia
Urwin H, Ghazi-Noori S, Collinge J, Isaacs A.  Biochem Soc Trans 2009; 37: 208-12

HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10q.
Lloyd SE, Rossor M, Fox N, Mead S, Collinge J.  BMC Med Genet 2009; 10: 90. 

The R1441C mutation alters thefolding properties of the ROC domain of LRRK2
Li Y, Dunn L, Greggio E, Krumm B, Jackson GS, Cookson MR, Lewis PA, Deng J.
Biochim Biophys Acta 2009; 1792: 1194-7.

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere M, Singh Pahwa J, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan A, Lovestone S, Powell J, Priotsi P, Brayne C, Rubinzstein D, Gill M, Lawlor B, Morgan K, Brown K, Passmore P, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith D, Lehmann D, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Nöthen M, Maier W, Jessen F, Schürmann B, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Goate A, Kauwe JSK, Cruchaga C, Nowotny P, Morris JC, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, van Broeckhoven C, Bettens K, Sleegers K, Singleton A, Guerreiro R, Muehlesien T, Moebus S, Jöckel KH, Klopp N, Wichmann H, Younkin S, Carrasquillo M, Pankratz S, Holmans P, O’Donovan M, Owen MJ, Williams J.  Nat Genet 2009; 41: 1088-93.

Clinical trials and methodological problems in prion diseases - Authors' reply
Mead S, Rudge P, Hudson F, Walker S, Darbyshire J, Collinge J; for the PRION-1 investigators.
Lancet Neurol 2009; 8: 782-783.

Variant CJD in an individual heterozygous for PRNP codon 129
Kaski D, Mead S, Hyare H, Cooper S, Jampana R, Overell J, Knight R, Collinge J, Rudge P.  Lancet 2009; 374: 2128.

A novel protective prion protein variant co-localises with kuru exposure
Mead S, Whitfield J, Poulter M, Shah P, Uphill J, Campbell T, Al-Doujaily H, Hummerich H, Beck J, Mein C, Verzilli C, Whittaker J, Alpers M, Collinge J. N Engl J Med 2009; 361: 2056-65.

Shadoo (Sprn) and prion disease incubation time in mice
Lloyd SE, Grizenkova J, Pota H, Collinge J.  Mamm Genome 2009; 20: 367-74.

Conformational properties of beta -PrP
Hosszu LL, Trevitt CR, Jones S, Batchelor M, Scott DJ, Jackson GS, Collinge J, Waltho JP, Clarke AR.  J Biol Chem 2009; 284: 21981-90.

Folding kinetics of the human prion protein probed by temperature jump.
Hart T, Hosszu LL, Trevitt CR, Jackson GS, Waltho JP, Collinge J, Clarke AR.
Proc Natl Acad Sci USA 2009; 106: 5651-6.

Corticobasal syndrome associated with a novel 1048_1049insG progranulin mutation
Rohrer JD, Beck J, Warren JD, Revesz T, Holton J, Collinge J, Warrington EK, Mead S.
J Neurol Neurosurg Psychiatry 2009; 80: 1297-8.

Safety and efficacy of quinacrine in human prion disease (PRION-1 study): a patientpreference trial.
Collinge J, Gorham M, Hudson F, Kennedy A, Keogh G, Pal S, Rossor M, Rudge P, Siddique D, Syper M, Thomas D, Walker S, Webb T, Wroe S, Darbyshire J.  Lancet Neurol 2009; 8: 334-44.

Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins
Asante EA, Gowland I, Grimshaw A, Linehan JM, Smidak M, Houghton R, Osiguwa O, Tomlinson A, Joiner S, Brandner S, Wadsworth JD, Collinge J.  J Gen Virol 2009; 90: 546-58.

A role of cellular prion protein in programming T-cell cytokine responses in disease
Ingram RJ, Isaacs JD, Kaur G, Lowther DE, Reynolds CJ, Boyton RJ, Collinge J, Jackson GS, Altmann DM.  FASEB J 2009; 23: 1672-84.

Unswitched immunoglobulin M response prolongs mouse survival in prion disease
Tayebi M, Collinge J, Hawke S.  J Gen Virol 2009; 90: 777-82.

Crystal structure of human prion protein bound to a therapeutic antibody
Antonyuk SV, Trevitt CR, Strange RW, Jackson GS, Sangar D, Batchelor M, Cooper S, Fraser C, Jones S, Georgiou T, Khalili-Shirazi A, Clarke AR, Hasnain SS, Collinge J. Proc Natl Acad Sci USA 2009; 106: 2554-8.

Highly sensitive, quantitative cell-based assay for prions adsorbed to solid surfaces
Edgeworth JA, Jackson GS, Clarke AR, Weissmann C, Collinge J.  Proc Natl Acad Sci USA 2009; 106: 3479-83.

Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration
Rollinson S, Rizzu P, Sikkink S, Baker M, Halliwell N, Snowden J, Traynor BJ, Ruano D, Cairns N, Rohrer JD, Mead S, Collinge J, Rossor M, Akay E, Guerreiro R, Rademakers R, Morrison KE, Pastor P, Alonso E, Martinez-Lage P, Graff-Radford N, Neary D, Heutink P, Mann DM, Van Swieten J, Pickering-Brown SM.  Neurobiol Aging 2009; 30: 656-65

Seven year discordance in age at onset in monozygotic twins with inherited prion disease (P102L)
Webb T, Mead S, Beck J, Uphill J, Pal S, Hampson S, Wadsworth JD, Mena ID, O'Malley C, Brandner S, Schapira A, Wroe S, Collinge J.  Neuropathol Appl Neurobiol 2009; 35: 427-32.

Corticobasal syndrome associated with a novel 1048_1049insG proganulin mutation
J D Rohrer, J Beck, D Warren, King, Al Sarraj, Holton, Revesz, J Collinge,  S Mead  J Neurol Neuorsurg Pyschiatry 2009;80:1297-8

Age of onset and death in inherited prion disease are heritable
Webb TE, Whittaker J, Collinge J, Mead S. Am J Med Genet B Neuropsychiatr Genet. 2009; 5: 496-501

Human Prion Diseases
Collinge J. Principles & Practice of Clinical Virology, 6th edn 2009

Prion disease. In: Gelder MG, Andreasen NC, Lopez-Ibor JJ, Geddes JR, eds. New Oxford Textbook of Psychiatry, 2nd edn
Collinge J.  Oxford University Press, 2009: 351-61

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 2009 May 13

HECTD2 is associated with susceptibility to mouse and human prion disease
Lloyd SE, Maytham EG, Pota H, Grizenkova J, Molou E, Uphill J, Hummerich H, Whitfield J, Alpers MP, Mead S, Collinge J.
PLoS Genet 2009; 5:

Preventing prion pathogenicity by targeting the cellular prion protein
Nicoll A J, Collinge J Infect Disord Drug Targets. 2009 Feb;9(1):48-57.

The role of CHMP2B in frontotemporal dementia
Urwin H, Ghazi-Noori S, Collinge J, Isaacs A. Biochem Soc Trans. 2009 Feb;37(Pt 1):208-12.

Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study
Mead S, Poulter M, Uphill J, Beck J, Whitfield J, Webb TE, Campbell T, Adamson G, Deriziotis P, Tabrizi SJ, Hummerich H, Verzilli C, Alpers MP, Whittaker JC, Collinge J. Lancet Neurol. 2009 Jan;8(1):57-66.

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Harold D, Abraham R, Mead S, Collinge J, et al Nature Genetics 41, 1088 - 1093

Presymptomatic Generalized Brain Atrophy in Frontotemporal Dementia Caused by CHMP2B Mutation
Rohrer JD, Ahsan RL, Isaacs AM, Nielsen JE, Ostergaard L, Scahill R, Warren JD, Rossor MN, Fox NC, Johannsen P.
Dement Geriatr Cogn Disord 2009; 27:182-186

Cortical volumes and atrophy rates in FTD-3 CHMP2B mutation carriers and related non-carriers
Eskildsen SF, Ostergaard LR, Rodell AB, Ostergaard L, Nielsen JE, Isaacs AM, Johannsen P.
Neuroimage 2009;45:713-21

The heritability and genetics of frontotemporal lobar degeneration
Rohrer JD, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, Beck J, Isaacs AM, Authier A, Ferrari R, Fox NC, Mackenzie IR, Warren JD, de Silva R, Holton J, Revesz T, Hardy J, Mead S, Rossor MN. Neurology 2009; 73: 1451-6.