Antisense oligonucleotide therapy for patients with Friedreich’s ataxia carrying the c.165+5G>C splicing mutation

Antisense oligonucleotide therapy for patients with Friedreich’s ataxia carrying the c.165+5G>C splicing mutation

Friedreich’s ataxia (FRDA) is a multisystem, progressive disease. 96% of patients carry biallelic GAA triplet expansion mutations in intron 1 of the frataxin gene (FXN). The remaining 4% have a pathogenic GAA expansion on one FXN allele and another mutation on the second allele. A point mutation, FX...

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Bibliographic Details
Main Authors: Pouiré Yameogo, Selina Aguilar, Thazha P. Prakash, Frank Rigo, David R. Lynch, Jill S. Napierala, Marek Napierala
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Molecular Therapy: Nucleic Acids
Subjects:
MT: Oligonucleotides: Therapies and Applications
Friedreich’s ataxia
antisense oligonucleotides
aberrant splicing
frataxin point mutation
compound heterozygous
Online Access:http://www.sciencedirect.com/science/article/pii/S2162253125001714
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