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Article

V180I mutation of the prion protein gene associated with atypical PrPSc glycosylation.

Neuroscience letters - 20 Nov 2006

Chasseigneaux Stéphanie, Haïk Stéphane, Laffont-Proust Isabelle, De Marco Olivier, Lenne Martine, Brandel Jean-Philippe, Hauw Jean-Jacques, Laplanche Jean-Louis, Peoc'h Katell

Abstract excerpt

A valine to isoleucine mutation at residue 180 was identified in a French patient with Creutzfeldt-Jakob disease (CJD). The mutation is located in the close vicinity of one of the two N-glycosylation sites of the cellular prion protein (PrP(C)). Western blot analysis revealed accumulation in the brain of the pathogenic proteinase K-resistant PrP (PrP(Sc)) isoform with the notable absence of the diglycosylated...

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Identifiers

PMID: 17029785
DOI: 10.1016/j.neulet.2006.08.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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