Article
Fatal amyloid formation in a patient's antibody light chain is caused by a single point mutation.
eLife - 10 Mar 2020
Kazman Pamina, Vielberg Marie-Theres, Pulido Cendales María Daniela, Hunziger Lioba, Weber Benedikt, Hegenbart Ute, Zacharias Martin, Köhler Rolf, Schönland Stefan, Groll Michael, Buchner Johannes
Abstract excerpt
In systemic light chain amyloidosis, an overexpressed antibody light chain (LC) forms fibrils which deposit in organs and cause their failure. While it is well-established that mutations in the LC's VL domain are important prerequisites, the mechanisms which render a patient LC amyloidogenic are ill-defined. In this study, we performed an in-depth analysis of the factors and mutations responsible for the...
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