Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Phenotypic Heterogeneity of Variably Protease-Sensitive Prionopathy: A Report of Three Cases Carrying Different Genotypes at PRNP Codon 129.

Viruses - 10 Feb 2022

Baiardi Simone, Mammana Angela, Rossi Marcello, Ladogana Anna, Carlà Benedetta, Gambetti Pierluigi, Capellari Sabina, Parchi Piero

Abstract excerpt

Variably protease-sensitive prionopathy is an exceedingly rare, likely underestimated, sporadic prion disease that is characterized by heterogeneous and often non-specific clinical and pathological features posing diagnostic challenges. We report the results of a comprehensive analysis of three emblematic cases carrying different genotypes at the methionine (M)/valine (V) polymorphic codon 129 in the prion...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Brain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endopeptidase K

Share to Genotype

Share to Phenotype

Share to Prion Diseases

Share to PrPSc Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 35215959
DOI: 10.3390/v14020367
PMCID: PMC8879235

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic Heterogeneity of Variably Protease-Sensitive Prionopathy: A Report of Three Cases Carrying Different Genotypes at PRNP Codon 129.PMID 35215959Read ↗

Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein.Semantic proximity Read ↗

A novel form of human disease with a protease-sensitive prion protein and heterozygosity methionine/valine at codon 129: Case report.Semantic proximity Read ↗

Variably protease-sensitive prionopathy, a unique prion variant with inefficient transmission properties.Semantic proximity Read ↗

Phenotypic variability of sporadic human prion disease and its molecular basis: past, present, and future.Semantic proximity Read ↗

Search for a genetic cause of variably protease-sensitive prionopathySemantic proximity Read ↗

Variably protease-sensitive prionopathy in a PRNP codon 129 heterozygous UK patient with co-existing tau, α synuclein and Aβ pathology.Semantic proximity Read ↗

Clinicopathological phenotype of codon 129 valine homozygote sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects.Semantic proximity Read ↗

Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.Semantic proximity Read ↗

Variably protease-sensitive prionopathy: a novel disease of the prion protein.Semantic proximity Read ↗

Type 1 protease resistant prion protein and valine homozygosity at codon 129 of PRNP identify a subtype of sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Phenotypic variability in human prion diseases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.