Article
D18G transthyretin is monomeric, aggregation prone, and not detectable in plasma and cerebrospinal fluid: a prescription for central nervous system amyloidosis?
Biochemistry - 10 Jun 2003
Hammarström Per, Sekijima Yoshiki, White Joleen T, Wiseman R Luke, Lim Amareth, Costello Catherine E, Altland Klaus, Garzuly Ferenc, Budka Herbert, Kelly Jeffery W
Abstract excerpt
Over 70 transthyretin (TTR) mutations facilitate amyloidosis in tissues other than the central nervous system (CNS). In contrast, the D18G TTR mutation in individuals of Hungarian descent leads to CNS amyloidosis. D18G forms inclusion bodies in Escherichia coli, unlike the other disease-associated TTR variants overexpressed to date. Denaturation and reconstitution of D18G from inclusion bodies afford a folded...
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