Article
Effects of the N2144S mutation on backbone dynamics of a TB-cbEGF domain pair from human fibrillin-1.
Journal of molecular biology - 8 Feb 2002
Yuan Xuemei, Werner Jörn M, Lack Jeremy, Knott Vroni, Handford Penny A, Campbell Iain D, Downing A Kristina
Abstract excerpt
The calcium-binding epidermal growth factor-like (cbEGF) module and the transforming growth factor beta-binding protein-like (TB) module are the two major structural motifs found in fibrillin-1, the extracellular matrix (ECM) protein defective in the Marfan syndrome (MFS). An MFS-causing mutation, N2144S, which removes a calcium ligand in cbEGF32, does not detectably affect fibrillin-1 biosynthesis, rate of...
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