Structure, Function, Folding, and Aggregation of a Neuroferritinopathy-related Ferritin Variant.

08:00 EDT 15th April 2019 | BioPortfolio

Summary of "Structure, Function, Folding, and Aggregation of a Neuroferritinopathy-related Ferritin Variant."

Neuroferritinopathy is a rare, adult-onset, dominantly inherited movement disorder caused by mutations in ferritin gene. A ferritin light chain variant related to neuroferritinopathy, in which alanine 96 is replaced with threonine (A96T), was expressed in Escherichia coli, purified, and characterized. The circular dichroism spectrum, analytical ultracentrifuge, and small-angle X-ray scattering studies have shown that both subunit structure and assembly of A96T are the same as those of wild-type human ferritin light chain (HuFTL). Iron-incorporation ability was also comparable to that of HuFTL. Although the structural stability against heat, acid, and denaturant was reduced, the structure was sufficiently stable under physiological conditions. The most remarkable defect observed for A96T was lower refolding efficiency and higher propensity to aggregate. The possible relationship between folding deficiency and disease is discussed.


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This article was published in the following journal.

Name: Biochemistry
ISSN: 1520-4995


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Medical and Biotech [MESH] Definitions

Stress-inducible members of the heat-shock proteins 70 family. HSP72 heat shock proteins function with other MOLECULAR CHAPERONES to mediate PROTEIN FOLDING and to stabilize pre-existent proteins against aggregation.

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A rapid biochemical reaction involved in the formation of proteins. It begins even before a protein has been completely synthesized and proceeds through discrete intermediates (primary, secondary, and tertiary structures) before the final structure (quaternary structure) is developed.

The processes of RNA tertiary structure formation.

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