Reversal of C9orf72 mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision.

doi:10.1073/pnas.2307814121

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Article

Reversal of C9orf72 mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision.

Proceedings of the National Academy of Sciences of the United States of America - 23 Apr 2024

Sachdev Aradhana, Gill Kamaljot, Sckaff Maria, Birk Alisha M, Aladesuyi Arogundade Olubankole, Brown Katherine A, Chouhan Runvir S, Issagholian-Lewin Patrick Oliver, Patel Esha, Watry Hannah L, Bernardi Mylinh T, Keough Kathleen C, Tsai Yu-Chih, Smith Alec Simon Tulloch, Conklin Bruce R, Clelland Claire Dudley

Abstract excerpt

Efforts to genetically reverse C9orf72 pathology have been hampered by our incomplete understanding of the regulation of this complex locus. We generated five different genomic excisions at the C9orf72 locus in a patient-derived induced pluripotent stem cell (iPSC) line and a non-diseased wild-type (WT) line (11 total isogenic lines), and examined gene expression and pathological hallmarks of C9 frontotemporal...

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PMID: 38621131
DOI: 10.1073/pnas.2307814121
PMCID: PMC11047104

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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