[HTML][HTML] Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis: a potential disease-causing mechanism in Marfan …
DP Reinhardt, RN Ono, H Notbohm, PK Muller… - Journal of Biological …, 2000 - ASBMB
Most extracellular proteins consist of various modules with distinct functions. Mutations in
one common type, the calcium-binding epidermal growth factor-like module (cbEGF), can
lead to a variety of genetic disorders. Here, we describe as a model system structural and
functional consequences of two typical mutations in cbEGF modules of fibrillin-1 (N548I,
E1073K), resulting in the Marfan syndrome. Large (80–120 kDa) wild-type and mutated
polypeptides were recombinantly expressed in mammalian cells. Both mutations did not …
one common type, the calcium-binding epidermal growth factor-like module (cbEGF), can
lead to a variety of genetic disorders. Here, we describe as a model system structural and
functional consequences of two typical mutations in cbEGF modules of fibrillin-1 (N548I,
E1073K), resulting in the Marfan syndrome. Large (80–120 kDa) wild-type and mutated
polypeptides were recombinantly expressed in mammalian cells. Both mutations did not …