Smooth muscle cell-specific myosin heavy chain, encoded by , is selectively expressed in smooth muscle cells (s). Pathogenic variants in predispose to a number of disorders, including heritable thoracic aortic disease associated with patent ductus arteriosus, visceral myopathy, and megacystis-microcolon-intestinal hypoperistalsis syndrome. Rare variants of uncertain significance occur throughout the gene, including p.
View Article and Find Full Text PDFA VMYH motif was determined to help ketosynthases in polyketide assembly lines select α,β-unsaturated intermediates from an equilibrium mediated by an upstream dehydratase. Alterations of this motif decreased ketosynthase selectivity within a model tetraketide synthase, most significantly when replaced by the TNGQ motif of ketosynthases that accept D-β-hydroxy intermediates.
View Article and Find Full Text PDFAn HLA variant confers protective immunity against COVID-19 through cross-reactive T cells induced by seasonal coronaviruses.
View Article and Find Full Text PDFThe loops of modular polyketide synthases (PKSs) serve diverse functions but are largely uncharacterized. They frequently contain amino acid repeats resulting from genetic events such as slipped-strand mispairing. Determining the tolerance of loops to amino acid changes would aid in understanding and engineering these multidomain molecule factories.
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