Associated Papers
Advances in Duchenne Muscular Dystrophy: Diagnostic Techniques and Dystrophin Domain Insights.
Sarvutiene J et al.
International Journal of Molecular Sciences, 2025
Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.
Toh ZY et al.
Plos One, 2016
The Dystrophin Complex: Structure, Function, and Implications for Therapy.
Gao QQ et al.
Comprehensive Physiology, 2015
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.
Juan-Mateu J et al.
Plos One, 2015
Thermodynamic stability, unfolding kinetics, and aggregation of the N-terminal actin-binding domains of utrophin and dystrophin.
Singh SM et al.
Proteins, 2012
Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-beta aggregates.
Singh SM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation.
Henderson DM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy.
Hamed S et al.
Clinical Genetics, 2005
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