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Article

Abnormal synaptic architecture in iPSC-derived neurons from a multi-generational family with genetic Creutzfeldt-Jakob disease.

Stem cell reports - 8 Oct 2024

Gojanovich Aldana D, Le Nhat T T, Mercer Robert C C, Park Seonmi, Wu Bei, Anane Alice, Vultaggio Janelle S, Mostoslavsky Gustavo, Harris David A

Abstract excerpt

Genetic prion diseases are caused by mutations in PRNP, which encodes the prion protein (PrPC). Why these mutations are pathogenic, and how they alter the properties of PrPC are poorly understood. We have consented and accessed 22 individuals of a multi-generational Israeli family harboring the highly penetrant E200K PRNP mutation and generated a library of induced pluripotent stem cells (iPSCs) representing nine...

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Cell Differentiation
Creutzfeldt-Jakob Syndrome
Induced Pluripotent Stem Cells
Neurons
Prion Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, N-Methyl-D-Aspartate

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Identifiers

PMID: 39332406
DOI: 10.1016/j.stemcr.2024.08.010
PMCID: PMC11561462

Genes

PRNP

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

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