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Article

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer.

Human molecular genetics - 15 May 2010

Lostal William, Bartoli Marc, Bourg Nathalie, Roudaut Carinne, Bentaïb Azeddine, Miyake Katsuya, Guerchet Nicolas, Fougerousse Françoise, McNeil Paul, Richard Isabelle

Abstract excerpt

Deficiency of the dysferlin protein presents as two major clinical phenotypes: limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Dysferlin is known to participate in membrane repair, providing a potential hypothesis to the underlying pathophysiology of these diseases. The size of the dysferlin cDNA prevents its direct incorporation into an adeno-associated virus (AAV) vector for therapeutic gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20154340
DOI: 10.1093/hmg/ddq065

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Related research

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Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer.PMID 20154340Read ↗

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AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal ModelsSemantic proximity Read ↗

Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency.Semantic proximity Read ↗

Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities.Semantic proximity Read ↗

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping.Semantic proximity Read ↗

Dysferlin and Animal Models for DysferlinopathySemantic proximity Read ↗

The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5.Semantic proximity Read ↗

Full-length Dysferlin Transfer by the Hyperactive Sleeping Beauty Transposase Restores Dysferlin-deficient MuscleSemantic proximity Read ↗

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients’ CellsSemantic proximity Read ↗

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