Connectin

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  Subject Areas on Research

  • Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified TTN-Encoded Titin Truncating Variants. 
  • Antibodies in sera of patients with late-onset myasthenia gravis recognize the PEVK domain of titin. 
  • Atomic force microscopy captures length phenotypes in single proteins. 
  • Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. 
  • Drosophila stretchin-MLCK is a novel member of the Titin/Myosin light chain kinase family. 
  • Exploiting a Mechanical Perturbation of a Titin Domain to Identify How Force Field Parameterization Affects Protein Refolding Pathways. 
  • HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. 
  • Mechanical and chemical unfolding of a single protein: a comparison. 
  • Mechanical unfolding intermediates in titin modules. 
  • Mechanical unfolding of an ankyrin repeat protein. 
  • Multiple conformations of PEVK proteins detected by single-molecule techniques. 
  • Muscle giants: molecular scaffolds in sarcomerogenesis. 
  • Myotilin is mutated in limb girdle muscular dystrophy 1A. 
  • Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). 
  • Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. 
  • Overexpression of TNNI3K, a cardiac-specific MAPKKK, promotes cardiac dysfunction. 
  • Point mutations alter the mechanical stability of immunoglobulin modules. 
  • Regulatory and structural motifs of chicken gizzard myosin light chain kinase. 
  • Reverse engineering of the giant muscle protein titin. 
  • Reversible unfolding of fibronectin type III and immunoglobulin domains provides the structural basis for stretch and elasticity of titin and fibronectin. 
  • Single molecular force spectroscopy of modular proteins in the nervous system. 
  • Single protein misfolding events captured by atomic force microscopy. 
  • Stretching single protein molecules: titin is a weird spring. 
  • The clash in titin. 
  • The rho-guanine nucleotide exchange factor domain of obscurin activates rhoA signaling in skeletal muscle. 
  • The rho-guanine nucleotide exchange factor domain of obscurin regulates assembly of titin at the Z-disk through interactions with Ran binding protein 9. 
  • Titin and nebulin content in human skeletal muscle following eccentric resistance exercise. 
  • Titin truncations lead to impaired cardiomyocyte autophagy and mitochondrial function in vivo. 
  • Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. 
  • myotilin Mutation found in second pedigree with LGMD1A.