کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3070634 1580751 2006 9 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Characterization of the l-ferritin variant 460InsA responsible of a hereditary ferritinopathy disorder
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی عصب شناسی
پیش نمایش صفحه اول مقاله
Characterization of the l-ferritin variant 460InsA responsible of a hereditary ferritinopathy disorder
چکیده انگلیسی

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 able to form heteropolymers that showed a reduced capacity to incorporate iron in vitro. The Ln1 expressed in HeLa cells formed hybrid ferritins, with the endogenous H and L chains, and caused an iron excess phenotype. Ferritin inactivation and faster degradation in Ln1 transfectants concurred in increasing iron availability, which was probably responsible for the higher sensitivity to H2O2 toxicity and higher level of oxidized proteins. The findings suggest that the pathogenic effects of Ln1 expression are more likely due to deregulation of cellular iron homeostasis rather than to protein conformational problems.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Disease - Volume 23, Issue 3, September 2006, Pages 644–652
نویسندگان
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