Author: Elisa Pagan

An innovative gene editing technique enables multiple rare diseases to be treated with a single therapy.

Autor: Hasier Eraña Un equipo de investigadores estadounidenses ha publicado en la prestigiosa revista Nature una técnica revolucionaria de edición genética (técnica que permite introducir cambios en el material genético de las células) que podría cambiar la forma en que abordamos el tratamiento de diversas enfermedades genéticas o de origen familiar de baja prevalencia, también […]

New study reveals the need for earlier access to palliative care in prion diseases

Un reciente estudio publicado en la revista Neurology (pueden acceder artículo original aquí) analiza cómo se utilizan los recursos de los cuidados paliativos en pacientes con enfermedades priónicas, como la enfermedad de Creutzfeldt-Jakob, basándose en la experiencia de varias clínicas de EE. UU. Las enfermedades priónicas son dolencias raras, rápidas y devastadoras, para las que […]

The Risk of Transmission of Genetic Prion Diseases is Greater Than 50%

The Risk of Transmission of Genetic Prion Diseases is Greater Than 50% Durante décadas se ha asumido que las enfermedades priónicas hereditarias siguen las reglas básicas de Mendel: un 50% de probabilidad de transmitir la mutación a cada hijo. Pero ¿y si ese pilar de la genética clásica estuviera equivocado? Este estudio revela un hallazgo […]

Promising advances in gene therapy for Huntington's disease

Autor: Josu Galarza La enfermedad de Huntington es un trastorno neurodegenerativo clasificado como enfermedad rara, con una incidencia de entre 5 y 10 casos por cada 100.000 habitantes. De carácter hereditario, sus principales manifestaciones clínicas son los movimientos involuntarios, así como alteraciones cognitivas y psiquiátricas. La presencia de agregados proteicos tóxicos en el cerebro, junto […]

A comprehensive phylogeny of mammalian PRNP gene reveals no influence of prion misfolding propensity on the evolution of this gene

The study shows that prion properties are conserved without post-translational modifications. An international team led by researchers from IRTA-CReSA and CIC bioGUNE has shown that the fastest known prion strain, CWD-vole, maintains its properties even in the absence of glycosylation and membrane anchoring. Using...

Effect of primary structural variation on cervid prion protein in flexibility, stability, and spontaneous misfolding propensity

Cofactors favour prion misfolding, but are not essential to generate infectivity A multidisciplinary team led by researchers from CIC bioGUNE and in collaboration with partners from the NEURO-COOP project, has demonstrated that the prion protein [...]

Characterization of prion strains and peripheral prion infectivity patterns in E200K genetic CJD patients

Researchers from the Centre for Encephalopathies and Emerging Communicable Diseases of the University of Zaragoza, within the framework of the NEURO-COOP project, have managed to detect prions (PrP^Sc) in the oocytes and ovaries of sheep naturally infected with classical scrapie, using the ultra-sensitive PMCA (Protein Misfolding Cyclic Amplification) technique.

Detection of prions in oocytes and ovaries of ewes naturally infected with classical scrapie

Researchers from the Centre for Encephalopathies and Emerging Communicable Diseases of the University of Zaragoza, within the framework of the NEURO-COOP project, have managed to detect prions (PrP^Sc) in the oocytes and ovaries of sheep naturally infected with classical scrapie, using the ultra-sensitive PMCA (Protein Misfolding Cyclic Amplification) technique.

Conservation of strain properties of bank vole-adapted chronic wasting disease in the absence of glycosylation and membrane anchoring

The study shows that prion properties are conserved without post-translational modifications. An international team led by researchers from IRTA-CReSA and CIC bioGUNE has shown that the fastest known prion strain, CWD-vole, maintains its properties even in the absence of glycosylation and membrane anchoring. Using...

Cofactors facilitate bona fide prion misfolding in vitro but are not necessary for the infectivity of recombinant murine prions

Cofactors favour prion misfolding, but are not essential to generate infectivity A multidisciplinary team led by researchers from CIC bioGUNE and in collaboration with partners from the NEURO-COOP project, has demonstrated that the prion protein [...]