The importance of ongoing international surveillance for Creutzfeldt–Jakob disease
Creutzfeldt–Jakob disease (CJD) is a rapidly progressive, fatal and transmissible
neurodegenerative disease associated with the accumulation of misfolded prion protein in …
neurodegenerative disease associated with the accumulation of misfolded prion protein in …
Towards a treatment for genetic prion disease: trials and biomarkers
Prion disease is a rare, fatal, and exceptionally rapid neurodegenerative disease. Although
incurable, prion disease follows a clear pathogenic mechanism, in which a single gene …
incurable, prion disease follows a clear pathogenic mechanism, in which a single gene …
Brainwide silencing of prion protein by AAV-mediated delivery of an engineered compact epigenetic editor
Prion disease is caused by misfolding of the prion protein (PrP) into pathogenic self-
propagating conformations, leading to rapid-onset dementia and death. However …
propagating conformations, leading to rapid-onset dementia and death. However …
Evaluating drug targets through human loss-of-function genetic variation
Naturally occurring human genetic variants that are predicted to inactivate protein-coding
genes provide an in vivo model of human gene inactivation that complements knockout …
genes provide an in vivo model of human gene inactivation that complements knockout …
Effect of neprilysin inhibition on Alzheimer disease plasma biomarkers: a secondary analysis of a randomized clinical trial
Methods| In a post hoc exploratory analysis of a 52-week randomized clinical trial
(NCT03552575), we examined the effect of sacubitril/valsartan vs valsartan (ie, neprilysin …
(NCT03552575), we examined the effect of sacubitril/valsartan vs valsartan (ie, neprilysin …
Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study
Background Human prion diseases are rare and usually rapidly fatal neurodegenerative
disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in …
disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in …
[HTML][HTML] Genetic counseling for prion disease: updates and best practices
JS Goldman, SM Vallabh - Genetics in Medicine, 2022 - Elsevier
Prion disease is a rare, fatal, and often rapidly progressive neurodegenerative disease. Ten
to fifteen percent of cases are caused by autosomal dominant gain-of-function variants in the …
to fifteen percent of cases are caused by autosomal dominant gain-of-function variants in the …
Smart Nanoscale Extracellular Vesicles in the Brain: Unveiling their Biology, Diagnostic Potential, and Therapeutic Applications
Information exchange is essential for the brain, where it communicates the physiological and
pathological signals to the periphery and vice versa. Extracellular vesicles (EVs) are a …
pathological signals to the periphery and vice versa. Extracellular vesicles (EVs) are a …
Genetic aspects of human prion diseases
Human prion diseases are rapidly progressive and fatal neurodegenerative conditions
caused by a disease-causing isoform of the native prion protein. The prion protein gene …
caused by a disease-causing isoform of the native prion protein. The prion protein gene …
[HTML][HTML] Regional variability and genotypic and pharmacodynamic effects on PrP concentration in the CNS
Prion protein (PrP) concentration controls the kinetics of prion replication and is a genetically
and pharmacologically validated therapeutic target for prion disease. In order to evaluate …
and pharmacologically validated therapeutic target for prion disease. In order to evaluate …