Sporadic Creutzfeldt-Jakob disease VM1: phenotypic and molecular characterization of a novel subtype of human prion disease

The methionine (M)—valine (V) polymorphic codon 129 of the prion protein gene (PRNP) plays a central role in both susceptibility and phenotypic expression of sporadic Creutzfeldt-Jakob diseases (sCJD). Experimental transmissions of sCJD in humanized transgenic mice led to the isolation of five prion...

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Detalles Bibliográficos
Autores principales: Gelpi, Ellen, Baiardi, Simone, Nos, Carlos, Dellavalle, Sofia, Aldecoa, Iban, Ruiz-Garcia, Raquel, Ispierto, Lourdes, Escudero, Domingo, Casado, Virgina, Barranco, Elena, Boltes, Anuncia, Molina-Porcel, Laura, Bargalló, Nuria, Rossi, Marcello, Mammana, Angela, Tiple, Dorina, Vaianella, Luana, Stoegmann, Elisabeth, Simonitsch-Klupp, Ingrid, Kasprian, Gregor, Klotz, Sigrid, Höftberger, Romana, Budka, Herbert, Kovacs, Gabor G., Ferrer, Isidre, Capellari, Sabina, Sanchez-Valle, Raquel, Parchi, Piero
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9387077/
https://www.ncbi.nlm.nih.gov/pubmed/35978418
http://dx.doi.org/10.1186/s40478-022-01415-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9387077/
https://www.ncbi.nlm.nih.gov/pubmed/35978418
http://dx.doi.org/10.1186/s40478-022-01415-7

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