Kinesin light chain 1 (KLC1) binds to the intracellular cytoplasmic domain of the type-1 membrane-spanning protein calsyntenin-1 (also known as alcadein-α) to mediate transport of a subset of vesicles. Here, we identify serine 460 in KLC1 (KLC1ser460) as a phosphorylation site and show that mutation of KLC1ser460 influences the binding of KLC1 to calsyntenin-1. Mutation of KLC1ser460 to an alan...

microtubule affinity-regulating kinase 2 (mark2) protein has a substantial role in regulation of vital cellular processes like induction of polarity, regulation of cell junctions, cytoskeleton structure and cell differentiation. the abnormal function of this protein has been associated with a number of pathological conditions like alzheimer disease, autism, several carcinomas and development of...

human serum albumin (hsa) is an abundant, multifunctional and nonglycosylated negatively charged plasma protein. hsa ascribed ligand-binding and transport properties, antioxidant functions and enzymatic activities. in the present study, the interaction and side effects of a new designed anti-cancer compound (1,10-phenanthroline butyl dithiocarbamato palladium(ii) nitrate) on hsa have been inves...

Abstract Background Mutations in the LMNA gene encoding Lamin A/C, a major component of nuclear lamina, cause laminopathies including dilated cardiomyopathy (DCM). DCM patients with mutations have particularly severe clinical courses such as heart transplantation and death due to failure. However, underlying mechanisms LMNA-induced remains elusive. Methods results We identified Q353R mutation f...

Objectives: Duchenne and Becker muscular dystrophies (DMD/BMD) are muscle diseases that show X-linked recessive inheritance. The disease occurs depending on large mutations, deletions/duplications, small point mutations mid-intronic of the gene encoding protein called dystrophin. Therefore, in this study, we aimed to investigate pathogenic variants DMD affected family. Methods: A 23-year-old ma...

localization may be cell-cycle dependent. Mutations in FA patients represent an important resource for understanding both the function of the FA proteins and the molecular basis of the disease. For instance, the FA patient-derived FANCC-L554P mutant, which has a leucine to proline mutation at amino acid 554, fails to complement the mitomycin-C sensitivity of FA-C cell lines7 and is defective in...

The cystic fibrosis transmembrane conductance regulator (CFTR) anion channel is essential to maintain fluid homeostasis in key organs. Functional impairment of CFTR due mutations the cftr gene leads fibrosis. Here, we show that first nucleotide-binding domain (NBD1) can spontaneously adopt an alternate conformation departs from canonical NBD fold previously observed. Crystallography reveals thi...