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Article

Human Genetic Evidence for New Targets in Prion Diseases: Opportunities and Challenges.

Sub-cellular biochemistry - 1 Jan 2025

Hill Elizabeth, Mead Simon

Abstract excerpt

Human genetics offers a powerful, causally grounded approach to therapeutic target identification in prion diseases. In this chapter, we examine strategies used to discover and evaluate gene candidates, emphasizing the complementary roles of literature-based hypotheses, expression profiling, cellular screening, and in vivo models. Although candidate selection using cellular and transcriptomic systems has yielded...

Topics

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Disease Models, Animal
PRNP gene
Genetic Predisposition to Disease
Genome-Wide Association Study
Prion Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41004060
DOI: 10.1007/978-3-031-97055-9_10

Genes

PRNP
GAL3ST1
STX6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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