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Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display

Lookup NU author(s): Faye Haldane, Dr Steven Laval, Dr Louise VB Anderson, Emerita Professor Katherine Bushby


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Mutations in dysferlin, a member of the fer1-like protein family that plays a role in membrane integrity and repair, can give rise to a spectrum of neuromuscular disorders with phenotypic variability including limbgirdle muscular dystrophy 2B, Myoshi myopathy and distal anterior compartment myopathy. To improve the tools available for understanding the pathogenesis of the dysferlinopathies, we have established a large source of highly specific antibody reagents against dysferlin by selection of heavy-chain antibody fragments originating from a nonimmune llama-derived phage-display library. By utilizing different truncated forms of recombinant dysferlin for selection and diverse selection methodologies, antibody fragments with specificity for two different dysferlin domains could be identified. The selected llama antibody fragments are functional in Western blotting, immunofluorescence microscopy and immunoprecipitation applications. Using these antibody fragments, we found that calpain 3, which shows a secondary reduction in the dysferlinopathies, interacts with dysferlin.

Publication metadata

Author(s): Huang Y, Verheesen P, Roussis A, Frankhuizen W, Ginjaar I, Haldane F, Laval S, Anderson LVB, Verrips T, Frants RR, de Haard H, Bushby K, den Dunnen J, van der Maarel SM

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2005

Volume: 13

Issue: 6

Pages: 721-730

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group


DOI: 10.1038/sj.ejhg.5201414

PubMed id: 15827562


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