Missense Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function - Mohammed, Fiyaz; Odintsova, Elena; Chidgey, Martyn (International journal of molecular sciences, 2022)
Keywords: Alleles; Amino Acid Substitution; Amino acids; Cytoskeleton; Desmoplakins - chemistry; Desmoplakins - genetics; Desmoplakins - metabolism; Disease; E coli; Fluorescent Antibody Technique; Genetic Association Studies; Genetic Predisposition to Disease; HeLa Cells; Humans; Intermediate Filaments - chemistry; Intermediate Filaments - genetics; Intermediate Filaments - metabolism; Models, Molecular; Mutation; Mutation, Missense; Phenotype; Protein Conformation; Protein Interaction Domains and Motifs - genetics; Proteins; Recombinant Proteins; Solubility; Structure-Activity Relationship; desmoplakin; mutation; arrhythmogenic right ventricular cardiomyopathy; desmosome; plakin repeat domain