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Article

Restoration of Dysferlin After Exon 32 Skipping in Patient Cells.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2025

Barthélémy Florian, Courrier Sébastien, Bartoli Marc

Abstract excerpt

Dysferlinopathies stand as uncommon genetic disorders that impact muscle function, stemming from mutations within the DYSF gene. Recent research has unveiled that exon 32 of DYSF is dispensable for dysferlin's functional properties. In this study, we introduce an approach to observe exon 32 skipping at both the RNA and protein levels, using an antisense oligonucleotide, within cells obtained from a patient...

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Share to Dysferlin
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Muscle Proteins

Share to Muscular Dystrophies, Limb-Girdle

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Share to Oligonucleotides, Antisense

Source

Identifiers

PMID: 40720037
DOI: 10.1007/978-1-0716-4730-1_30

Genes

DYSF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Restoration of Dysferlin After Exon 32 Skipping in Patient Cells.PMID 40720037Read ↗

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Therapeutic exon skipping for dysferlinopathies?Semantic proximity Read ↗

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