DETERMINING NORMAL PRION PROTEIN FUNCTION, EMPHASISING THE ROLE PLAYED BY PROTEIN CLEAVAGE, AND ALSO DEFINING THE RELATIONSHIP BETWEEN SURVEILLANCE INTENSITY AND ANNUAL SPORADIC CJD INCIDENCE

The real-time quaking-induced conversion assay for detection of human prion disease and study of other protein misfolding diseases

Matthias Schmitz, Maria Cramm, Franc Llorens, Dominik Mueller-Cramm, Steven Collins, Ryuichiro Atarashi, Katsuya Satoh, Christina D Orru, Bradley R Groveman, Saima Zafar, Walter J Schulz-Schaeffer, Byron Caughey, Inga Zerr

2016-11-01

The development and adaption of in vitro misfolded protein amplification systems has been a major innovation in the detection of a..

A 2-Substituted 8-Hydroxyquinoline Stimulates Neural Stem Cell Proliferation by Modulating ROS Signalling

Cathryn L Haigh, Carolin Tumpach, Steven J Collins, Simon C Drew

2016-09-01

Eight-hydroxyquinolines (8HQs) are a class of compounds that have been identified as potential therapeutics for a number of neurod..

LGI1 antibody encephalopathy overlapping with sporadic Creutzfeldt-Jakob disease

Boaz Kim, Patrick Yoo, Tom Sutherland, Alison Boyd, Christiane Stehmann, Catriona McLean, Steven Collins

2016-08-01

OBJECTIVE: To report a rare case of leucine-rich, glioma inactivated 1 (LGI1) antibody-mediated autoimmune encephalopathy clinical..

Prion protein "gamma-cleavage": characterizing a novel endoproteolytic processing event

Victoria Lewis, Vanessa A Johanssen, Peter J Crouch, Genevieve M Klug, Nigel M Hooper, Steven J Collins

2016-02-01

The cellular prion protein (PrP(C)) is a ubiquitously expressed protein of currently unresolved but potentially diverse function. ..

Quantifying prion disease penetrance using large population control cohorts

Eric Vallabh Minikel, Sonia M Vallabh, Monkol Lek, Karol Estrada, Kaitlin E Samocha, J Fah Sathirapongsasuti, Cory Y McLean, Joyce Y Tung, Linda PC Yu, Pierluigi Gambetti, Janis Blevins, Shulin Zhang, Yvonne Cohen, Wei Chen, Masahito Yamada, Tsuyoshi Hamaguchi, Nobuo Sanjo, Hidehiro Mizusawa, Yosikazu Nakamura, Tetsuyuki Kitamoto

2016-01-20

More than 100,000 genetic variants are reported to cause Mendelian disease in humans, but the penetrance-the probability that a ca..

Alzheimer's disease cerebrospinal fluid biomarkers are not influenced by gravity drip or aspiration extraction methodology

Alan Rembach, Lisbeth A Evered, Qiao-Xin Lii, Tabitha Nash, Lesley Vidaurre, Christopher J Fowler, Kelly K Pertile, Rebecca L Rumble, Brett O Trounson, Sarah Maher, Francis Mooney, Maree Farrow, Kevin Taddei, Stephanie Rainey-Smith, Simon M Laws, S Lance Macaulay, William Wilson, David G Darby, Ralph N Martins, David Ames

2015-11-19

INTRODUCTION: Cerebrospinal fluid (CSF) biomarkers, although of established utility in the diagnostic evaluation of Alzheimer's di..

A Genome Wide Association Study Links Glutamate Receptor Pathway to Sporadic Creutzfeldt-Jakob Disease Risk

Pascual Sanchez-Juan, Matthew T Bishop, Gabor G Kovacs, Miguel Calero, Yurii S Aulchenko, Anna Ladogana, Alison Boyd, Victoria Lewis, Claudia Ponto, Olga Calero, Anna Poleggi, Angel Carracedo, Sven J van der Lee, Thomas Stroebel, Fernando Rivadeneira, Albert Hofman, Stephane Haik, Onofre Combarros, Jose Berciano, Andre G Uitterlinden

2015-04-28

We performed a genome-wide association (GWA) study in 434 sporadic Creutzfeldt-Jakob disease (sCJD) patients and 1939 controls fro..

Antioxidant and Metal Chelation-Based Therapies in the Treatment of Prion Disease

Marcus W Brazier, Anthony G Wedd, Steven J Collins

2014-06-01

Many neurodegenerative disorders involve the accumulation of multimeric assemblies and amyloid derived from misfolded conformers o..

Unusual Clinical and Molecular-Pathological Profile of Gerstmann-Straussler-Scheinker Disease Associated With a Novel PRNP Mutation (V176G)

Marion Simpson, Vanessa Johanssen, Alison Boyd, Genevieve Klug, Colin L Masters, Qiao-Xin Li, Roger Pamphlett, Catriona McLean, Victoria Lewis, Steven J Collins

2013-09-01

IMPORTANCE: Here we describe the unusual clinical and molecular-neuropathological profile of a case of Gerstmann-Sträussler-Schein..

Cytosolic caspases mediate mislocalised SOD2 depletion in an in vitro model of chronic prion infection

Layla Sinclair, Victoria Lewis, Steven J Collins, Cathryn L Haigh

2013-07-01

Oxidative stress as a contributor to neuronal death during prion infection is supported by the fact that various oxidative damage ..

Immunotherapeutic approaches in prion disease: progress, challenges and potential directions

Marcus W Brazier, Alexandra I Mot, Anthony R White, Steven J Collins

2013-05-01

Therapeutic trials utilizing animal models of prion disease have explored a variety of compounds and a number of approaches with v..

Sporadic CreutzfeldtJakob disease presenting as spastic paraparesis

N Geevasinga, NG Simon, S Collins, ME Buckland, K Ng

2013-05-01

Characterising the uncommon corticobasal syndrome presentation of sporadic Creutzfeldt-Jakob disease

Will Lee, Marion Simpson, Helen Ling, Catriona Mclean, Steven Collins, David R Williams

2013-01-01

BACKGROUND: Corticobasal syndrome (CBS), which encompasses cortical sensory loss, alien limb, bradykinesia, rigidity, limb apraxia..

Microwave Synthesis of Prion Protein Fragments up to 111 Amino Acids in Length Generates Biologically Active Peptides

John A Karas, Martin Boland, Cathryn Haigh, Vanessa Johanssen, Andrew Hill, Kevin Barnham, Steven Collins, Denis Scanlon

2012-03-01

Misfolded conformers of the prion protein are aetiologically implicated in neurodegenerative conditions termed prion diseases (als..