학술논문
D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile
Document Type
article
Author
Sophie Valleix; Guglielmo Verona; Noémie Jourde-Chiche; Brigitte Nédelec; P. Patrizia Mangione; Frank Bridoux; Alain Mangé; Ahmet Dogan; Jean-Michel Goujon; Marie Lhomme; Carolane Dauteuille; Michèle Chabert; Riccardo Porcari; Christopher A. Waudby; Annalisa Relini; Philippa J. Talmud; Oleg Kovrov; Gunilla Olivecrona; Monica Stoppini; John Christodoulou; Philip N. Hawkins; Gilles Grateau; Marc Delpech; Anatol Kontush; Julian D. Gillmore; Athina D. Kalopissis; Vittorio Bellotti
Source
Nature Communications, Vol 7, Iss 1, Pp 1-14 (2016)
Subject
Language
English
ISSN
2041-1723
Abstract
Decrease in Apolipoprotein C-III (ApoC-III) yields a cardioprotective lipoprotein profile. Here, Valleix et al.reveal a novel ApoC-III variant conferring low plasma ApoC-III concentration and cardioprotection despite renal insufficiency, and, unexpectedly, causing dominant hereditary systemic amyloidosis due to its fibrillogenic nature.