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Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa

11 Oct 2006

Abstract excerpt

To elucidate the molecular mechanisms of impaired elastic fiber formation in recessive cutis laxa, we have investigated two disease-causing missense substitutions in fibulin-5, C217R and S227P. Pulse-chase immunoprecipitation experiments indicated that S227P mutant fibulin-5 was synthesized and secreted by skin fibroblasts at a reduced rate when compared with the wild-type protein. Both mutants failed to be...

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PMID: 17035250
DOI: 10.1093/hmg/ddl414

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