Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms

Journal of Biological Chemistry

Volumn 288, Issue 6, 2013, Pages 4116-4127

  Li, Hongqiao ^a   Gakh, Oleksandr ^a   Smith, Douglas Y ^a   Ranatunga, Wasantha K ^a   Isaya, Grazia ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIOXIDANT PROTECTION; BIOCHEMICAL EFFECTS; BIOCHEMICAL PROPERTIES; CELL-FREE SYSTEM; CELLULAR COMPARTMENTS; CELLULAR IRONS; CELLULAR MODEL; COFACTORS; FRATAXIN; HUMAN CELLS; INDIRECT EFFECTS; IRON METABOLISM; IRON-BINDING PROTEIN; IRON-SULFUR CLUSTERS; ISOFORMS; LABILE IRONS; MITOCHONDRIAL MATRIX; MOLECULAR DEFECTS; NUCLEAR GENES; OXIDATIVE DAMAGE; PATHOPHYSIOLOGICAL; PATHOPHYSIOLOGY; PHYSIOLOGICAL CONDITION; POINT MUTATIONS; SYNERGISTIC EFFECT; TRANSCRIPTIONAL SILENCING;

DNA SEQUENCES; GALLIUM ALLOYS; IRON; NEURODEGENERATIVE DISEASES; PHYSIOLOGICAL MODELS; PHYSIOLOGY; PORPHYRINS; PROTEINS;

GENES;

CELL PROTEIN; FRATAXIN; FXN PROTEIN; HEME; IRON; ISOPROTEIN; MITOCHONDRIAL PROTEIN; SULFUR; UNCLASSIFIED DRUG;

ALLELE; ANTIOXIDANT ACTIVITY; ARTICLE; CATALYSIS; CELL COMPARTMENTALIZATION; CELL DAMAGE; CELL FREE SYSTEM; CELL LEVEL; CELL PROTECTION; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; ENZYME DEFICIENCY; EXTRACELLULAR MATRIX; FRDA GENE; FRIEDREICH ATAXIA; GENE; GENE SILENCING; GENETIC ASSOCIATION; HOMEOSTASIS; HUMAN; HUMAN CELL; INTRON; IRON HOMEOSTASIS; IRON METABOLISM; MISSENSE MUTATION; MITOCHONDRIAL RESPIRATION; OXIDATIVE STRESS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STABILITY; PROTEIN SYNTHESIS; TRINUCLEOTIDE REPEAT;

ALLELES; AMINO ACID SUBSTITUTION; ANIMALS; CELL LINE, TUMOR; CELL-FREE SYSTEM; CERCOPITHECUS AETHIOPS; COS CELLS; FRIEDREICH ATAXIA; HUMANS; IRON-BINDING PROTEINS; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; PROTEIN ISOFORMS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84873644230     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M112.435263     Document Type: Article

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