Search Results - "Collinge, J."

Molecular neurology of prion disease by Collinge, J

“…Prions are infectious pathogens principally composed of abnormal forms of a protein encoded in the host genome. They cause lethal neurodegenerative conditions…”
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Prion diseases of humans and animals : Their causes and molecular basis by COLLINGE, John

“…Prion diseases are transmissible neurodegenerative conditions that include Creutzfeldt-Jakob disease (CJD) in humans and bovine spongiform encephalopathy (BSE)…”
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Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series by Koriath, C., Kenny, J., Adamson, G., Druyeh, R., Taylor, W., Beck, J., Quinn, L., Mok, T. H., Dimitriadis, A., Norsworthy, P., Bass, N., Carter, J., Walker, Z., Kipps, C., Coulthard, E., Polke, J. M., Bernal-Quiros, M., Denning, N., Thomas, R., Raybould, R., Williams, J., Mummery, C. J., Wild, E. J., Houlden, H., Tabrizi, S. J., Rossor, M. N., Hummerich, H., Warren, J. D., Rowe, J. B., Rohrer, J. D., Schott, J. M., Fox, N. C., Collinge, J., Mead, S.

“…Next-generation genetic sequencing (NGS) technologies facilitate the screening of multiple genes linked to neurodegenerative dementia, but there are few…”
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Rapid cell-surface prion protein conversion revealed using a novel cell system by Goold, R., Rabbanian, S., Sutton, L., Andre, R., Arora, P., Moonga, J., Clarke, A.R., Schiavo, G., Jat, P., Collinge, J., Tabrizi, S.J.

“…Prion diseases are fatal neurodegenerative disorders with unique transmissible properties. The infectious and pathological agent is thought to be a misfolded…”
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Tissue distribution of protease resistant prion protein in variant Creutzfeldt-Jakob disease using a highly sensitive immunoblotting assay by Wadsworth, JDF, Joiner, S, Hill, AF, Campbell, TA, Desbruslais, M, Luthert, PJ, Collinge, J

“…Variant Creutzfeldt-Jakob disease (vCJD) has a pathogenesis distinct from other forms of human prion disease: disease-related prion protein (PrP Sc) is readily…”
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Crystal structure of human prion protein bound to a therapeutic antibody by Antonyuk, S.V, Trevitt, C.R, Strange, R.W, Jackson, G.S, Sangar, D, Batchelor, M, Cooper, S, Fraser, C, Jones, S, Georgiou, T, Khalili-Shirazi, A, Clarke, A.R, Hasnain, S.S, Collinge, J

“…Prion infection is characterized by the conversion of host cellular prion protein (PrPC) into disease-related conformers (PrPSc) and can be arrested in vivo by…”
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ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B) by PARKINSON, N, INCE, P. G, SHAW, P. J, FISHER, E. M. C, SMITH, M. O, HIGHLEY, R, SKIBINSKI, G, ANDERSEN, P. M, MORRISON, K. E, PALL, H. S, HARDIMAN, O, COLLINGE, J

“…Mutation in the CHMP2B gene has been implicated in frontotemporal dementia. The authors screened CHMP2B in patients with ALS and several cohorts of control…”
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Alternative fates of newly formed PrPSc upon prion conversion on the plasma membrane by Goold, Rob, McKinnon, Chris, Rabbanian, Samira, Collinge, John, Schiavo, Giampietro, Tabrizi, Sarah J

“…Prion diseases are fatal neurodegenerative diseases characterised by the accumulation of misfolded prion protein (PrP(Sc)) in the brain. They are caused by the…”
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On the Spectral Evolution of Cool, Helium-Atmosphere White Dwarfs: Detailed Spectroscopic and Photometric Analysis of DZ Stars by Dufour, P, Bergeron, P, Liebert, James, Harris, H. C, Knapp, G. R, Anderson, S. F, Hall, Patrick B, Strauss, Michael A, Collinge, Matthew J, Edwards, Matt C

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Review: Contribution of transgenic models to understanding human prion disease by Wadsworth, J. D. F., Asante, E. A., Collinge, J.

“…J. D. F. Wadsworth, E. A. Asante and J. Collinge (2010) Neuropathology and Applied Neurobiology36, 576–597
Contribution of transgenic models to understanding…”
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Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series by Webb, T. E. F., Poulter, M., Beck, J., Uphill, J., Adamson, G., Campbell, T., Linehan, J., Powell, C., Brandner, S., Pal, S., Siddique, D., Wadsworth, J. D., Joiner, S., Alner, K., Petersen, C., Hampson, S., Rhymes, C., Treacy, C., Storey, E., Geschwind, M. D., Nemeth, A. H., Wroe, S., Collinge, J., Mead, S.

“…The largest kindred with inherited prion disease P102L, historically Gerstmann-Sträussler-Scheinker syndrome, originates from central England, with émigrés now…”
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High-b-Value Diffusion MR Imaging and Basal Nuclei Apparent Diffusion Coefficient Measurements in Variant and Sporadic Creutzfeldt-Jakob Disease by HYARE, H, THORNTON, J, STEVENS, J, MEAD, S, RUDGE, P, COLLINGE, J, YOUSRY, T. A, JÄGER, H. R

“…DWI using a standard b-value of 1000 s/mm(2) has emerged as the most sensitive sequence for the diagnosis of CJD. The purpose of this study was to investigate…”
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Post-natal knockout of prion protein alters hippocampal CA1 properties, but does not result in neurodegeneration by Mallucci, G.R., Ratté, S., Asante, E.A., Linehan, J., Gowland, I., Jefferys, J.G.R., Collinge, J.

“…Prion protein (PrP) plays a crucial role in prion disease, but its physiological function remains unclear Mice with gene deletions restricted to the coding…”
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Cortical Frontoparietal Network Dysfunction in CHMP2B -Frontotemporal Dementia by Musaeus, Christian Sandøe, Pedersen, Jette Stokholm, Kjær, Troels Wesenberg, Johannsen, Peter, Waldemar, Gunhild, Haverberg, Maria Joy Normann, Bacher, Theis, Nielsen, Jørgen Erik, Roos, Peter

“…A rare cause of inherited frontotemporal dementia (FTD) is a mutation in the gene on chromosome 3 leading to the autosomal dominantly inherited FTD ( -FTD)…”
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Catalog of Fundamental-Mode RR Lyrae Stars in the Galactic Bulge from the Optical Gravitational Lensing Experiment by Collinge, Matthew J, Sumi, Takahiro, Fabrycky, Daniel

“…We present a catalog of 1888 fundamental-mode RR Lyrae stars detected in the Galactic bulge fields of the second phase of the Optical Gravitational Lensing…”
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Early onset familial Alzheimer's disease: Mutation frequency in 31 families by JANSSEN, J. C, BECK, J. A, CAMPBELL, T. A, DICKINSON, A, FOX, N. C, HARVEY, R. J, HOULDEN, H, ROSSOR, M. N, COLLINGE, J

“…Three causative genes have been identified for autosomal dominant AD. To determine the proportion of patients with early onset AD with a positive family…”
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Reversible Conversion of Monomeric Human Prion Protein between Native and Fibrilogenic Conformations by Jackson, G. S., Hosszu, L. L. P., Power, A., Hill, A. F., Kenney, J., Saibil, H., Craven, C. J., Waltho, J. P., Clarke, A. R., Collinge, J.

“…Prion propagation involves the conversion of cellular prion protein (PrP$^C$) into a disease-specific isomer, PrP$^{Sc}$, shifting from a predominantly…”
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Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease by Beck, J A, Campbell, T A, Adamson, G, Poulter, M, Uphill, J B, Molou, E, Collinge, J, Mead, S

“…No susceptibility genes have been identified in human prion disase, apart from the prion protein gene (PRNP). The gene SPRN, encodes Shadoo (Sho, shadow of…”
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Cultural factors that affected the spatial and temporal epidemiology of kuru by Whitfield, J. T., Pako, W. H., Collinge, J., Alpers, M. P.

“…Kuru is a prion disease which became epidemic among the Fore and surrounding linguistic groups in Papua New Guinea, peaking in the late 1950s. It was…”
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Distinct neuropsychological profiles correspond to distribution of cortical thinning in inherited prion disease caused by insertional mutation by Alner, K, Hyare, H, Mead, S, Rudge, P, Wroe, S, Rohrer, J D, Ridgway, G R, Ourselin, S, Clarkson, M, Hunt, H, Fox, N C, Webb, T, Collinge, J, Cipolotti, L

“…BackgroundThe human prion diseases are a group of universally fatal neurodegenerative disorders associated with the auto-catalytic misfolding of the normal…”
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