A novel mechanism of phenotypic heterogeneity in Creutzfeldt-Jakob disease.
129 M and 129 V proportion
129 M/V polymorphism
Epitope mapping
Mass spectrometry
Prion protein allotype
Journal
Acta neuropathologica communications
ISSN: 2051-5960
Titre abrégé: Acta Neuropathol Commun
Pays: England
ID NLM: 101610673
Informations de publication
Date de publication:
19 06 2020
19 06 2020
Historique:
received:
09
06
2020
accepted:
11
06
2020
entrez:
21
6
2020
pubmed:
21
6
2020
medline:
29
5
2021
Statut:
epublish
Résumé
One of remarkable features of sporadic Creutzfeldt-Jakob disease (sCJD) is the great phenotypic variability. Understanding the molecular basis of this variability has important implications for the development of therapeutic approaches. It is well established that, in many cases, phenotypic heterogeneity of sCJD is under control of two determinants: the genotype at the methionine (M)/valine (V) polymorphic codon 129 of the human prion protein gene and the type, 1 or 2, of the pathogenic and disease-related form of the prion protein, PrP
Identifiants
pubmed: 32560672
doi: 10.1186/s40478-020-00966-x
pii: 10.1186/s40478-020-00966-x
pmc: PMC7304206
doi:
Substances chimiques
Prion Proteins
0
Methionine
AE28F7PNPL
Valine
HG18B9YRS7
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
85Subventions
Organisme : National Institute of Allergy and Infectious Diseases
ID : P01AI106705
Pays : International
Organisme : NCEZID CDC HHS
ID : UR8/CCU515004
Pays : United States
Organisme : National Institute of Allergy and Infectious Diseases
ID : 5R01NS083687
Pays : International
Organisme : NIAID NIH HHS
ID : P01 AI077774
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM094357
Pays : United States
Organisme : NIAID NIH HHS
ID : P01 AI106705
Pays : United States
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