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Genetic Factors in Mammalian Prion Diseases

Annual review of genetics, 2019-12, Vol.53, p.117

2019

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2.7 Å cryo-EM structure of ex vivo RML prion fibrils

Nature communications, 2022-07, Vol.13 (1), p.4004-4004, Article 4004

2022

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Safety and efficacy of quinacrine in human prion disease (PRION-1 study): a patient-preference trial

Lancet neurology, 2009-04, Vol.8 (4), p.334-344

2009

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Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

American journal of human genetics, 2013-03, Vol.92 (3), p.345-353

2013

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Bank vole prion protein extends the use of RT-QuIC assays to detect prions in a range of inherited prion diseases

Scientific reports, 2021-03, Vol.11 (1), p.5231-5231, Article 5231

2021

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Prion protein gene mutation detection using long-read Nanopore sequencing

Scientific reports, 2022-05, Vol.12 (1), p.8284-8284, Article 8284

2022

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Prion neuropathology follows the accumulation of alternate prion protein isoforms after infective titre has peaked

Nature communications, 2014-07, Vol.5 (1), p.4347, Article 4347

2014

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A high-content neuron imaging assay demonstrates inhibition of prion disease-associated neurotoxicity by an anti-prion protein antibody

Scientific reports, 2022-06, Vol.12 (1), p.9493-12, Article 9493

2022

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Structural features distinguishing infectious ex vivo mammalian prions from non-infectious fibrillar assemblies generated in vitro

Scientific reports, 2019-01, Vol.9 (1), p.376-376, Article 376

2019

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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

PloS one, 2023-11, Vol.18 (11), p.e0294465-e0294465

2023

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Single treatment with RNAi against prion protein rescues early neuronal dysfunction and prolongs survival in mice with prion disease

Proceedings of the National Academy of Sciences - PNAS, 2008-07, Vol.105 (29), p.10238-10243

2008

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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Nature genetics, 2005-08, Vol.37 (8), p.806-808

2005

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The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature

PloS one, 2018-01, Vol.13 (1), p.e0190818-e0190818

2018

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Genetic risk factors for variant Creutzfeldt–Jakob disease: a genome-wide association study

Lancet neurology, 2009, Vol.8 (1), p.57-66

2009

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Overexpression of mouse prion protein in transgenic mice causes a non-transmissible spongiform encephalopathy

Scientific reports, 2022-10, Vol.12 (1), p.17198-17198, Article 17198

2022

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Characterisation and prion transmission study in mice with genetic reduction of sporadic Creutzfeldt-Jakob disease risk gene Stx6

Neurobiology of disease, 2024-01, Vol.190, p.106363-106363, Article 106363

2024

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Targeting Cellular Prion Protein Reverses Early Cognitive Deficits and Neurophysiological Dysfunction in Prion-Infected Mice

Neuron (Cambridge, Mass.), 2007-02, Vol.53 (3), p.325-335

2007

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Spontaneous generation of prions and transmissible PrP amyloid in a humanised transgenic mouse model of A117V GSS

PLoS biology, 2020-06, Vol.18 (6), p.e3000725-e3000725

2020

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A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis

Nature communications, 2020-08, Vol.11 (1), p.3960-3960, Article 3960

2020

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Disease-Associated Prion Protein Oligomers Inhibit the 26S Proteasome

Molecular cell, 2007-04, Vol.26 (2), p.175-188

2007

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Superoxide dismutase 1 and tgSOD1 mouse spinal cord seed fibrils, suggesting a propagative cell death mechanism in amyotrophic lateral sclerosis

PloS one, 2010-05, Vol.5 (5), p.e10627

2010

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Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease

BMC neurology, 2021-06, Vol.21 (1), p.248-248, Article 248

2021

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A novel and rapid method for obtaining high titre intact prion strains from mammalian brain

Scientific reports, 2015-05, Vol.5 (1), p.10062-10062, Article 10062

2015

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Location and Properties of Metal-Binding Sites on the Human Prion Protein

Proceedings of the National Academy of Sciences - PNAS, 2001-07, Vol.98 (15), p.8531-8535

2001

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The role of CHMP2B in frontotemporal dementia

Biochemical Society transactions, 2009-02, Vol.37 (Pt 1), p.208

2009

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Genetic Factors in Mammalian Prion Diseases

2.7 Å cryo-EM structure of ex vivo RML prion fibrils

Safety and efficacy of quinacrine in human prion disease (PRION-1 study): a patient-preference trial

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

Bank vole prion protein extends the use of RT-QuIC assays to detect prions in a range of inherited prion diseases

Prion protein gene mutation detection using long-read Nanopore sequencing

Prion neuropathology follows the accumulation of alternate prion protein isoforms after infective titre has peaked

A high-content neuron imaging assay demonstrates inhibition of prion disease-associated neurotoxicity by an anti-prion protein antibody

Structural features distinguishing infectious ex vivo mammalian prions from non-infectious fibrillar assemblies generated in vitro

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

Single treatment with RNAi against prion protein rescues early neuronal dysfunction and prolongs survival in mice with prion disease

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature

Genetic risk factors for variant Creutzfeldt–Jakob disease: a genome-wide association study

Overexpression of mouse prion protein in transgenic mice causes a non-transmissible spongiform encephalopathy

Characterisation and prion transmission study in mice with genetic reduction of sporadic Creutzfeldt-Jakob disease risk gene Stx6

Targeting Cellular Prion Protein Reverses Early Cognitive Deficits and Neurophysiological Dysfunction in Prion-Infected Mice

Spontaneous generation of prions and transmissible PrP amyloid in a humanised transgenic mouse model of A117V GSS

A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis

Disease-Associated Prion Protein Oligomers Inhibit the 26S Proteasome

Superoxide dismutase 1 and tgSOD1 mouse spinal cord seed fibrils, suggesting a propagative cell death mechanism in amyotrophic lateral sclerosis

Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease

A novel and rapid method for obtaining high titre intact prion strains from mammalian brain

Location and Properties of Metal-Binding Sites on the Human Prion Protein

The role of CHMP2B in frontotemporal dementia

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