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

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

Abstract 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 f...

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Main Authors: Ellen Gelpi, Simone Baiardi, Carlos Nos, Sofia Dellavalle, Iban Aldecoa, Raquel Ruiz-Garcia, Lourdes Ispierto, Domingo Escudero, Virgina Casado, Elena Barranco, Anuncia Boltes, Laura Molina-Porcel, Nuria Bargalló, Marcello Rossi, Angela Mammana, Dorina Tiple, Luana Vaianella, Elisabeth Stoegmann, Ingrid Simonitsch-Klupp, Gregor Kasprian, Sigrid Klotz, Romana Höftberger, Herbert Budka, Gabor G. Kovacs, Isidre Ferrer, Sabina Capellari, Raquel Sanchez-Valle, Piero Parchi
Format: Article
Language:English
Published: BMC 2022-08-01
Series:Acta Neuropathologica Communications
Subjects:
CJD
PrP
Prion disease
Histotype
Classification
PRNP
Online Access:https://doi.org/10.1186/s40478-022-01415-7

Internet

https://doi.org/10.1186/s40478-022-01415-7

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