Article
Structural consequences of cysteine substitutions C1977Y and C1977R in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1.
The Journal of biological chemistry - 3 Dec 2004
Suk Ji Young, Jensen Sacha, McGettrick Aileen, Willis Antony C, Whiteman Pat, Redfield Christina, Handford Penny A
Abstract excerpt
The largest group of disease-causing mutations affecting calcium-binding epidermal growth factor-like (cbEGF) domain function in a wide variety of extracellular and transmembrane proteins is that which results in cysteine substitutions. Although known to introduce proteolytic susceptibility, the detailed structural consequences of cysteine substitutions in cbEGF domains are unknown. Here, we studied pathogenic...
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