Targeting a pathogenic cryptic exon that drives HLRCC to induce exon skipping

Targeting a pathogenic cryptic exon that drives HLRCC to induce exon skipping

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant cancer predisposition syndrome driven by the loss of fumarate hydratase (FH) activity. Recently, we identified a pathogenic variant in intron 9 of the FH gene that disrupts splicing by creating a novel splice accepto...

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Bibliographic Details
Main Authors: Siddhardha S. Maligireddy, Mariana D. Mandler, Judith C. Lunger, Madeline Yuen, Sneha Kulkarni, Alexendar R. Perez, Christina M. Fitzsimmons, Daniel R. Crooks, Raj Chari, W. Marston Linehan, Pedro J. Batista
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Molecular Therapy: Nucleic Acids
Subjects:
MT: Oligonucleotides: Therapies and Applications
splicing
ASO
CRISPR-Cas9
FH
HLRCC
Online Access:http://www.sciencedirect.com/science/article/pii/S2162253125002227
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