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Article

Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein.

Acta neuropathologica communications - 13 Nov 2013

Kobayashi Atsushi, Iwasaki Yasushi, Otsuka Hiroyuki, Yamada Masahito, Yoshida Mari, Matsuura Yuichi, Mohri Shirou, Kitamoto Tetsuyuki

Abstract excerpt

BACKGROUND: Sporadic Creutzfeldt-Jakob disease is classified according to the genotype at polymorphic codon 129 (M or V) of the prion protein (PrP) gene and the type (1 or 2) of abnormal isoform of PrP (PrPSc) in the brain. The most complicated entity in the current classification system is MV2, since it shows wide phenotypic variations, i.e., MV2 cortical form (MV2C), MV2 with kuru plaques (MV2K), or a mixed...

Topics

Animals
Blotting, Western
Brain
Codon
Creutzfeldt-Jakob Syndrome
Gene Knock-In Techniques
Genotype
Humans
Immunohistochemistry
Mice, Transgenic
Polymorphism, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

PrPSc Proteins

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Identifiers

PMID: 24252157
DOI: 10.1186/2051-5960-1-74
PMCID: PMC3833290

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