PRNP c.671C>T ;(p.A224V)

Variant ID: 20-4680537-C-T

NM_000311.3(PRNP):c.671C>T;(p.A224V)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Two distinct conformers of PrPD type 1 of sporadic Creutzfeldt-Jakob disease with codon 129VV genotype faithfully propagate in vivo.

Acta Neuropathologica Communications
Cali, Ignazio I; Espinosa, Juan Carlos JC; Nemani, Satish K SK; Marin-Moreno, Alba A; Camacho, Manuel V MV; Aslam, Rabail R; Kitamoto, Tetsuyuki T; Appleby, Brian S BS; Torres, Juan Maria JM; Gambetti, Pierluigi P
Publication Date: 2021-03-25

Variant appearance in text: CJD: A224V
PubMed Link: 33766126
Variant Present in the following documents:
  • 40478_2021_Article_1132.pdf
View BVdb publication page



Involvement of N- and C-terminal region of recombinant cervid prion protein in its reactivity to CWD and atypical BSE prions in real-time quaking-induced conversion reaction in the presence of high concentrations of tissue homogenates.

Prion
Suzuki, Akio A; Sawada, Kazuhei K; Yamasaki, Takeshi T; Denkers, Nathaniel D ND; Mathiason, Candace K CK; Hoover, Edward A EA; Horiuchi, Motohiro M
Publication Date: 2020-12

Variant appearance in text: CJD: A224V
PubMed Link: 33345717
Variant Present in the following documents:
  • KPRN_14_1858694.pdf
View BVdb publication page



Understanding Prion Strains: Evidence from Studies of the Disease Forms Affecting Humans.

Viruses
Rossi, Marcello M; Baiardi, Simone S; Parchi, Piero P
Publication Date: 2019-03-29

Variant appearance in text: CJD: A224V
PubMed Link: 30934971
Variant Present in the following documents:
  • viruses-11-00309.pdf
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Recent advances in the histo-molecular pathology of human prion disease.

Brain Pathology (Zurich, Switzerland)
Baiardi, Simone S; Rossi, Marcello M; Capellari, Sabina S; Parchi, Piero P
Publication Date: 2019-03

Variant appearance in text: CJD: A224V
PubMed Link: 30588685
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Takada, Leonel T LT; Kim, Mee-Ohk MO; Cleveland, Ross W RW; Wong, Katherine K; Forner, Sven A SA; Gala, Ignacio Illán II; Fong, Jamie C JC; Geschwind, Michael D MD
Publication Date: 2017-01

Variant appearance in text: PRNP: A224V
PubMed Link: 27943639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Modulation of Creutzfeldt-Jakob disease prion propagation by the A224V mutation.

Annals Of Neurology
Watts, Joel C JC; Giles, Kurt K; Serban, Ana A; Patel, Smita S; Oehler, Abby A; Bhardwaj, Sumita S; Guan, Shenheng S; Greicius, Michael D MD; Miller, Bruce L BL; DeArmond, Stephen J SJ; Geschwind, Michael D MD; Prusiner, Stanley B SB
Publication Date: 2015-10

Variant appearance in text: CJD: A224V
PubMed Link: 26094969
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease.

Bmc Medical Genetics
Bishop, Matthew T MT; Kovacs, Gabor G GG; Sanchez-Juan, Pascual P; Knight, Richard S G RS
Publication Date: 2008-04-21

Variant appearance in text: PRNP: Ala224Val
PubMed Link: 18426579
Variant Present in the following documents:
  • 1471-2350-9-31.pdf
View BVdb publication page