John Collinge
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View article: Intracellular trafficking SNARE protein, syntaxin-6, modifies prion cellular phenotypes and risk of disease development in vivo
Intracellular trafficking SNARE protein, syntaxin-6, modifies prion cellular phenotypes and risk of disease development in vivo Open
Increased expression of syntaxin-6, a SNARE protein involved in intracellular protein trafficking, is a proposed genetic risk mechanism for sporadic prion disease and progressive supranuclear palsy, as well as being implicated in Alzheimer…
View article: Corrigendum to “Prion Propagation is Dependent on Key Amino Acids in Charge Cluster 2 within the Prion Protein” [J. Mol. Biol. 435(4) (2023) 167925]
Corrigendum to “Prion Propagation is Dependent on Key Amino Acids in Charge Cluster 2 within the Prion Protein” [J. Mol. Biol. 435(4) (2023) 167925] Open
View article: Intracellular Trafficking SNARE Protein, Syntaxin-6, is a Modifier of Prion and Tau Pathogenesis <i>in vivo</i> and in Cellular Models
Intracellular Trafficking SNARE Protein, Syntaxin-6, is a Modifier of Prion and Tau Pathogenesis <i>in vivo</i> and in Cellular Models Open
Syntaxin-6, a SNARE protein involved in intracellular protein trafficking, is a proposed risk factor for sporadic prion disease, progressive supranuclear palsy and Alzheimer’s disease. However, no study has validated its functional role in…
View article: Isolation of a novel human prion strain from a PRNP codon 129 heterozygous vCJD patient
Isolation of a novel human prion strain from a PRNP codon 129 heterozygous vCJD patient Open
The epizootic prion disease of cattle, bovine spongiform encephalopathy (BSE), caused variant Creutzfeldt-Jakob disease (vCJD) in humans following dietary exposure. Codon 129 polymorphism of the human prion protein gene ( PRNP ), encoding …
View article: Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes
Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes Open
Prions are assemblies of misfolded prion protein that cause several fatal and transmissible neurodegenerative diseases, with the most common phenotype in humans being sporadic Creutzfeldt-Jakob disease (sCJD). Aside from variation of the p…
View article: Genome wide association study of clinical duration and age at onset of sporadic CJD
Genome wide association study of clinical duration and age at onset of sporadic CJD Open
Human prion diseases are rare, transmissible and often rapidly progressive dementias. The most common type, sporadic Creutzfeldt-Jakob disease (sCJD), is highly variable in clinical duration and age at onset. Genetic determinants of late o…
View article: Induction and characterisation of Aβ and tau pathology in<i>App<sup>NL-F/NL-F</sup></i>mice following inoculation with Alzheimer’s disease brain homogenate
Induction and characterisation of Aβ and tau pathology in<i>App<sup>NL-F/NL-F</sup></i>mice following inoculation with Alzheimer’s disease brain homogenate Open
Alzheimer’s disease (AD) is defined by the accumulation of neurofibrillary tangles containing hyperphosphorylated Tau and plaques containing Amyloid-β (Aβ). The aggregation of these two proteins is considered central to the disease. The la…
View article: Population structure and migration in the Eastern Highlands of Papua New Guinea, a region impacted by the kuru epidemic
Population structure and migration in the Eastern Highlands of Papua New Guinea, a region impacted by the kuru epidemic Open
View article: Iatrogenic Alzheimer’s disease in recipients of cadaveric pituitary-derived growth hormone
Iatrogenic Alzheimer’s disease in recipients of cadaveric pituitary-derived growth hormone Open
View article: The effect of prion protein expression on amyloid‐beta pathology
The effect of prion protein expression on amyloid‐beta pathology Open
Background We have developed multiple knock‐in mouse models that express humanised Aβ (App NL‐F ) with varying levels of PrP C expression (App NL‐F , App NL‐F _Tg20, App NL‐F _PrPKO, App NL‐F _hTauKI and App NL‐F _hTauKI_PrPKO) to investig…
View article: Characterisation and prion transmission study in mice with genetic reduction of sporadic Creutzfeldt-Jakob disease risk gene Stx6
Characterisation and prion transmission study in mice with genetic reduction of sporadic Creutzfeldt-Jakob disease risk gene Stx6 Open
View article: Two mouse models of Alzheimer’s disease accumulate amyloid at different rates and have distinct Aβ oligomer profiles unaltered by ablation of cellular prion protein
Two mouse models of Alzheimer’s disease accumulate amyloid at different rates and have distinct Aβ oligomer profiles unaltered by ablation of cellular prion protein Open
Oligomers formed from monomers of the amyloid β-protein (Aβ) are thought to be central to the pathogenesis of Alzheimer’s disease (AD). Unsurprisingly for a complex disease, current mouse models of AD fail to fully mimic the clinical disea…
View article: Genome wide association study of clinical duration and age at onset of sporadic CJD
Genome wide association study of clinical duration and age at onset of sporadic CJD Open
Human prion diseases are rare, transmissible and often rapidly progressive dementias. The most common type, sporadic Creutzfeldt-Jakob disease (sCJD), is highly variable in clinical duration and age at onset. Genetic determinants of late o…
View article: Clinical considerations in early-onset cerebral amyloid angiopathy
Clinical considerations in early-onset cerebral amyloid angiopathy Open
Cerebral amyloid angiopathy (CAA) is an important cerebral small vessel disease associated with brain haemorrhage and cognitive change. The commonest form, sporadic amyloid-β CAA, usually affects people in mid- to later life. However, earl…
View article: Loss of Residues 119–136, Including the First β-strand of Human Prion Protein, Generates an Aggregation-competent Partially “Open” Form
Loss of Residues 119–136, Including the First β-strand of Human Prion Protein, Generates an Aggregation-competent Partially “Open” Form Open
In prion replication, the cellular form of prion protein (PrPC) must undergo a full conformational transition to its disease-associated fibrillar form. Transmembrane forms of PrP have been implicated in this structural conversio…
View article: Seed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease
Seed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease Open
Human prion diseases are remarkable for long incubation times followed typically by rapid clinical decline. Seed amplification assays and neurodegeneration biofluid biomarkers are remarkably useful in the clinical phase, but their potentia…
View article: Direct Observation of Competing Prion Protein Fibril Populations with Distinct Structures and Kinetics
Direct Observation of Competing Prion Protein Fibril Populations with Distinct Structures and Kinetics Open
In prion diseases, fibrillar assemblies of misfolded prion protein (PrP) self-propagate by incorporating PrP monomers. These assemblies can evolve to adapt to changing environments and hosts, but the mechanism of prion evolution is poorly …
View article: Alanine replacements in the structured C-terminal domain of the prion protein reveal conformationally variable regions as major determinants for prion propagation
Alanine replacements in the structured C-terminal domain of the prion protein reveal conformationally variable regions as major determinants for prion propagation Open
Mutational analysis of the cellular prion protein (PrP C ) has revealed various regions of the protein that modulate prion propagation. However, most approaches involve deletions, insertions, or replacements in the presence of the wild-typ…
View article: A structural basis for prion strain diversity
A structural basis for prion strain diversity Open
View article: Characterisation and prion transmission study in mice with genetic reduction of sporadic Creutzfeldt-Jakob Disease risk gene<i>Stx6</i>
Characterisation and prion transmission study in mice with genetic reduction of sporadic Creutzfeldt-Jakob Disease risk gene<i>Stx6</i> Open
Sporadic Creutzfeldt-Jakob disease (sCJD), the most common human prion disease, is thought to occur when the cellular prion protein (PrP C ) spontaneously misfolds and assembles into prion fibrils, culminating in fatal neurodegeneration. I…
View article: Prion Propagation is Dependent on Key Amino Acids in Charge Cluster 2 within the Prion Protein
Prion Propagation is Dependent on Key Amino Acids in Charge Cluster 2 within the Prion Protein Open
To dissect the N-terminal residues within the cellular prion protein (PrPC) that are critical for efficient prion propagation, we generated a library of point, double, or triple alanine replacements within residues 23-111 of PrP…
View article: Trajectories of neurodegeneration and seed amplification biomarkers prior to disease onset in individuals at risk of prion disease
Trajectories of neurodegeneration and seed amplification biomarkers prior to disease onset in individuals at risk of prion disease Open
Human prion diseases are remarkable for long incubation times followed by typically rapid clinical decline. Seed amplification assays and neurodegeneration biofluid biomarkers are remarkably useful in the clinical phase, but their potentia…
View article: Overexpression of mouse prion protein in transgenic mice causes a non-transmissible spongiform encephalopathy
Overexpression of mouse prion protein in transgenic mice causes a non-transmissible spongiform encephalopathy Open
View article: Population Structure and Migration in the Eastern Highlands of Papua New Guinea; a Region Impacted by the kuru Epidemic
Population Structure and Migration in the Eastern Highlands of Papua New Guinea; a Region Impacted by the kuru Epidemic Open
Populations of the Eastern Highlands of Papua New Guinea (EHPNG, area 11,157 km 2 ) lived in relative isolation from the rest of the world until the mid-20 th century, and the region contains a wealth of linguistic and cultural diversity. …
View article: Impact of cellular prion protein expression on disease progression and pathology in two mouse models of Alzheimer’s disease
Impact of cellular prion protein expression on disease progression and pathology in two mouse models of Alzheimer’s disease Open
The aggregation of amyloid-β (Aβ) monomers increases their neurotoxicity, and these oligomeric species are thought to be central to the pathogenesis of Alzheimer’s disease. Unsurprisingly for such a complex disease, current Alzheimer’s dis…
View article: Loss of the first β-strand of human prion protein generates an aggregation-competent partially “open” form
Loss of the first β-strand of human prion protein generates an aggregation-competent partially “open” form Open
Prion diseases, a group of incurable, lethal neurodegenerative disorders of mammals including humans, are caused by prions, assemblies of misfolded host prion protein (PrP). The pathway of PrP misfolding is still unclear, though previous d…
View article: Single-nuclei transcriptomics of mammalian prion diseases identifies dynamic gene signatures shared between species
Single-nuclei transcriptomics of mammalian prion diseases identifies dynamic gene signatures shared between species Open
Mammalian prion diseases are fatal and transmissible neurological conditions caused by the propagation of prions, self-replicating multimeric assemblies of misfolded forms of host cellular prion protein (PrP). The most common human form of…
View article: Prion strains viewed through the lens of cryo-EM
Prion strains viewed through the lens of cryo-EM Open
Mammalian prions are lethal transmissible pathogens that cause fatal neurodegenerative diseases in humans and animals. They consist of fibrils of misfolded, host-encoded prion protein (PrP) which propagate through templated protein polymer…
View article: DNA methylation analysis of archival lymphoreticular tissues in Creutzfeldt–Jakob disease
DNA methylation analysis of archival lymphoreticular tissues in Creutzfeldt–Jakob disease Open
View article: Direct Observation of Competing Prion Protein Fibril Populations with Distinct Structures and Kinetics
Direct Observation of Competing Prion Protein Fibril Populations with Distinct Structures and Kinetics Open
Summary In prion diseases, fibrillar assemblies of misfolded prion protein (PrP) self-propagate by incorporating PrP monomers. Using total internal reflection and transient amyloid binding super-resolution microscopy, our study analyses el…