An amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaques.

doi:10.1006/bbrc.1993.1447

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Article

An amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaques.

Biochemical and biophysical research communications - 30 Apr 1993

Kitamoto T, Iizuka R, Tateishi J

Abstract excerpt

We found an amber mutation in the open reading frame of the prion protein (PrP) gene. The codon 145 mutation (tyrosine to stop) was recognized on a PrP allele of a patient with Alzheimer-type clinical course. Pathologic examination revealed many amyloid plaques and neurofibrillary changes. Howeve...

Topics

Adult
Amino Acid Sequence
Base Sequence
Codon
DNA
DNA Mutational Analysis
Female
Gerstmann-Straussler-Scheinker Disease
Humans
Immunohistochemistry
Molecular Sequence Data
Mutation
Nerve Tissue Proteins
Open Reading Frames
PrPSc Proteins
Prions
RNA, Messenger

Source

Open in PubMed

Identifiers

PMID: 8097911
DOI: 10.1006/bbrc.1993.1447

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8097911-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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