ArticleAnnals of neurology2015
Modulation of Creutzfeldt-Jakob disease prion propagation by the A224V mutation.
Article in Annals of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 25 citations in OpenAlex.
- The molecular determinants of a universal prion acceptor.PLoS pathogens · 2024Article
- Therapeutic Trial of anle138b in Mouse Models of Genetic Prion Disease.Journal of virology · 2023Article
- Two distinct conformers of PrPActa neuropathologica communications · 2021Article
- Article
- Spontaneous generation of prions and transmissible PrP amyloid in a humanised transgenic mouse model of A117V GSS.PLoS biology · 2020Article
- Understanding Prion Strains: Evidence from Studies of the Disease Forms Affecting Humans.Viruses · 2019Review
- Recent advances in the histo-molecular pathology of human prion disease.Brain pathology (Zurich, Switzerland) · 2019Review
- Genetic PrP Prion Diseases.Cold Spring Harbor perspectives in biology · 2018Review
- Prion disease.Handbook of clinical neurology · 2018Review
- Experimental Models of Inherited PrP Prion Diseases.Cold Spring Harbor perspectives in medicine · 2017Review
- Strains of Pathological Protein Aggregates in Neurodegenerative Diseases.Discoveries (Craiova, Romania) · 2017Review
- Polymorphism at 129 dictates metastable conformations of the human prion protein N-terminal β-sheet.Chemical science · 2017Article
- Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017Review
- Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis.Neuron · 2016Article
- Towards authentic transgenic mouse models of heritable PrP prion diseases.Acta neuropathologica · 2016Article
- Prion Diseases.Continuum (Minneapolis, Minn.) · 2015Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
objectiveMutations in the gene encoding the prion protein (PrP) are responsible for approximately 10 to 15% of cases of prion disease in humans, including Creutzfeldt-Jakob disease (CJD). Here, we report on the discovery of a previously unreported C-terminal PrP mutation (A224V) in a CJD patient exhibiting a disease similar to the rare VV1 subtype of sporadic (s) CJD and investigate the role of this mutation in prion replication and transmission.
methodsWe generated transgenic (Tg) mice expressing human PrP with the V129 polymorphism and A224V mutation, denoted Tg(HuPrP,V129,A224V) mice, and inoculated them with different subtypes of sCJD prions.
resultsTransmission of sCJD VV2 or MV2 prions was accelerated in Tg(HuPrP,V129,A224V) mice, compared to Tg(HuPrP,V129) mice, with incubation periods of ∼110 and ∼210 days, respectively. In contrast, sCJD MM1 prions resulted in longer incubation periods in Tg(HuPrP,V129,A224V) mice, compared to Tg(HuPrP,V129) mice (∼320 vs. ∼210 days). Prion strain fidelity was maintained in Tg(HuPrP,V129,A224V) mice inoculated with sCJD VV2 or MM1 prions, despite the altered replication kinetics.
interpretationOur results suggest that A224V is a risk factor for prion disease and modulates the transmission behavior of CJD prions in a strain-specific manner, arguing that residues near the C-terminus of PrP are important for controlling the kinetics of prion replication.
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