Article
Characterization of the l-ferritin variant 460InsA responsible of a hereditary ferritinopathy disorder.
Neurobiology of disease - 1 Sept 2006
Cozzi Anna, Santambrogio Paolo, Corsi Barbara, Campanella Alessandro, Arosio Paolo, Levi Sonia
Abstract excerpt
Hereditary ferritinopathies are dominant inherited movement disorders associated with extensive alterations of the l-ferritin C-terminus peptide caused by nucleotide insertions in l-ferritin gene (FTL). We describe the characterization of the most common variant, produced by the 460InsA mutations and here named Ln1. The recombinant Ln1 assembled into 24-mer ferritin shells with low efficiency, however, it was...
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