Systematic Review of Clinical and Pathophysiological Features of Genetic Creutzfeldt-Jakob Disease Caused by a Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene.
V180I
Val-to-Ile substitution at codon 180
genetic Creutzfeldt–Jakob disease
genetic prion disease
normal prion proteins
pathological prion proteins
prion protein gene
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
02 Dec 2022
02 Dec 2022
Historique:
received:
05
11
2022
revised:
28
11
2022
accepted:
28
11
2022
entrez:
11
12
2022
pubmed:
12
12
2022
medline:
15
12
2022
Statut:
epublish
Résumé
Genetic Creutzfeldt-Jakob disease (gCJD) is a subtype of genetic prion diseases (gPrDs) caused by the accumulation of mutated pathological prion proteins (PrP
Identifiants
pubmed: 36499498
pii: ijms232315172
doi: 10.3390/ijms232315172
pmc: PMC9737045
pii:
doi:
Substances chimiques
Prion Proteins
0
Prions
0
Codon
0
Types de publication
Journal Article
Review
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Grant-in-Aid from the Research Committee of Prion Disease and Slow Virus Infection of the Ministry of Health, Labour, and Welfare of Japan
ID : 20FC1054
Organisme : Grant-in-Aid from the Research Committee of Surveillance and Infection Control of Prion Disease of the Ministry of Health, Labour, and Welfare of Japan
ID : 20FC2001
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