Molecular basis for a novel systemic form of human hereditary apoA-I amyloidosis with vision loss
Isabel M Morgado, Pierre-Raphaël Rothschild, Afra Panahi, Jean‐Claude Aldigier, Andrew G. Burwash, Madhurima Das, Magali Colombat, Thierry Frouget, Jean Philippe Rerolle, François Paraf, Nathalie C. Rioux-Leclercq, Jean‐Michel Goujon, Caroline Beugnet, Antoine Dürrbach, Didier Samuel, , Sophie Valleix
The paper identifies a novel form of hereditary apoA-I amyloidosis caused by Glu34Lys mutation, revealing structural changes that lead to amyloid formation and vision loss.
bioRxiv · Jun 22, 2018 · PreprintMolecular Biology