Structure–Function Analysis of Friedreich’s Ataxia Mutants Reveals Determinants of Frataxin Binding and Activation of the Fe–S Assembly Complex

Friedreich’s ataxia (FRDA) is a progressive neurodegenerative disease associated with the loss of function of the protein frataxin (FXN) that results from low FXN levels due to a GAA triplet repeat expansion or, occasionally, from missense mutations in the FXN gene. Here biochemical and structural p...

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Veröffentlicht in:	Biochemistry (Easton) 2011-08, Vol.50 (33), p.7265-7274
Hauptverfasser:	Bridwell-Rabb, Jennifer, Winn, Andrew M, Barondeau, David P
Format:	Artikel
Sprache:	eng
Schlagworte:	60 APPLIED LIFE SCIENCES Allosteric Regulation BASIC BIOLOGICAL SCIENCES Carbon-Sulfur Lyases - genetics Carbon-Sulfur Lyases - metabolism Crystallography, X-Ray CYSTEINE DEFECTS Enzyme Activation Frataxin Friedreich Ataxia - genetics Friedreich Ataxia - metabolism GENETICS Humans IN VITRO Iron-Binding Proteins - chemistry Iron-Binding Proteins - genetics Iron-Binding Proteins - metabolism Iron-Regulatory Proteins - metabolism Iron-Sulfur Proteins - genetics Iron-Sulfur Proteins - metabolism Kinetics Models, Molecular Mutant Proteins - genetics Mutant Proteins - metabolism MUTANTS Mutation, Missense - genetics MUTATIONS NERVOUS SYSTEM DISEASES Protein Binding Protein Conformation PROTEINS Structure-Activity Relationship STRUCTURE-ACTIVITY RELATIONSHIPS Sulfides - metabolism
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