Cargando…
Novel mutation of the PRNP gene of a clinical CJD case
BACKGROUND: Transmissible spongiform encephalopathies (TSEs), a group of neurodegenerative diseases, are thought to be caused by an abnormal isoform of a naturally occurring protein known as cellular prion protein, PrP(C). The abnormal form of prion protein, PrP(Sc )accumulates in the brain of affec...
Autores principales: | Kotta, Konstantia, Paspaltsis, Ioannis, Bostantjopoulou, Sevasti, Latsoudis, Helen, Plaitakis, Andreas, Kazis, Dimitrios, Collinge, John, Sklaviadis, Theodoros |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2006
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1693557/ https://www.ncbi.nlm.nih.gov/pubmed/17129366 http://dx.doi.org/10.1186/1471-2334-6-169 |
Ejemplares similares
-
Miller-Fisher Syndrome: Are Anti-GAD Antibodies Implicated in Its Pathophysiology?
por: Dagklis, Ioannis E., et al.
Publicado: (2016) -
Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP: comparative analysis of patients identified in the Chinese National CJD Surveillance System
por: Shi, Qi, et al.
Publicado: (2021) -
Elevated E200K Somatic Mutation of the Prion Protein Gene (PRNP) in the Brain Tissues of Patients with Sporadic Creutzfeldt–Jakob Disease (CJD)
por: Won, Sae-Young, et al.
Publicado: (2023) -
Assessing initial MRI reports for suspected CJD patients
por: Jesuthasan, Aaron, et al.
Publicado: (2022) -
Imaging and CSF analyses effectively distinguish CJD from its mimics
por: Rudge, Peter, et al.
Publicado: (2018)