Associated Papers
Advances in Duchenne Muscular Dystrophy: Diagnostic Techniques and Dystrophin Domain Insights.
Sarvutiene J et al.
International Journal of Molecular Sciences, 2025
Clinical and genetic characteristics of female dystrophinopathy carriers.
Zhong J et al.
Molecular Medicine Reports, 2019
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
Thermodynamic stability, unfolding kinetics, and aggregation of the N-terminal actin-binding domains of utrophin and dystrophin.
Singh SM et al.
Proteins, 2012
SDM--a server for predicting effects of mutations on protein stability and malfunction.
Worth CL et al.
Nucleic Acids Research, 2011
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
Opening of tandem calponin homology domains regulates their affinity for F-actin.
Galkin VE et al.
Nature Structural & Molecular Biology, 2010
DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy.
Hamed S et al.
Clinical Genetics, 2005
The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy.
Norwood FL et al.
Structure (london, England : 1993), 2000
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