Article
An ER-directed gelsolin nanobody targets the first step in amyloid formation in a gelsolin amyloidosis mouse model.
Human molecular genetics - 1 May 2015
Van Overbeke Wouter, Wongsantichon Jantana, Everaert Inge, Verhelle Adriaan, Zwaenepoel Olivier, Loonchanta Anantasak, Burtnick Leslie D, De Ganck Ariane, Hochepied Tino, Haigh Jody, Cuvelier Claude, Derave Wim, Robinson Robert C, Gettemans Jan
Abstract excerpt
Hereditary gelsolin amyloidosis is an autosomal dominantly inherited amyloid disorder. A point mutation in the GSN gene (G654A being the most common one) results in disturbed calcium binding by the second gelsolin domain (G2). As a result, the folding of G2 is hampered, rendering the mutant plasma gelsolin susceptible to a proteolytic cascade. Consecutive cleavage by furin and MT1-MMP-like proteases generates 8...
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