Article

NMDA receptor misalignment in iPSC-derived neurons from a multi-generational family with inherited Creutzfeldt-Jakob disease

2022-05-23

Abstract excerpt

<h4>Summary</h4> The most common subtype of genetic prion disease is caused by the E200K mutation of the prion protein. We have obtained samples from 22 members of a multi-generational Israeli family harboring this mutation, and generated a library of induced pluripotent stem cells (iPSCs) representing nine carriers and four non-carriers. Whole-exome sequencing was performed on all individuals. A comparison of ne...

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Literature Corpus work: 0567a26d-92b8-5543-9a5c-f7218e163b4c
DOI: 10.1101/2022.05.20.491674

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