Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre

PLoS ONE

Volumn 9, Issue 9, 2014, Pages

  Henriques, Bárbara J ^a   Lucas, Tânia G ^a   Rodrigues, João V ^a,d   Frederiksen, Jane H ^a,b,e   Teixeira, Miguel S ^a   Tiranti, Valeria ^c   Bross, Peter ^b   Gomes, Cláudio M ^a  

^a INSTITUTO DE TECNOLOGIA QUÍMICA E BIOLÓGICA   (Portugal)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d INSTITUTO DE BIOLOGIA EXPERIMENTAL E TECNOLÓGICA   (Portugal)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLUTAMINE; IRON; METALLO BETA LACTAMASE; PROTEIN ETHE1; TRYPTOPHAN; UNCLASSIFIED DRUG; ETHE1 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; NUCLEOCYTOPLASMIC TRANSPORT PROTEIN; SULFIDE; ZINC;

ARTICLE; CATALYSIS; ENZYME ACTIVE SITE; ESCHERICHIA COLI; ETHE1 GENE; ETHYLMALONIC ENCEPHALOPATHY; GENE MUTATION; GENETIC VARIABILITY; METABOLIC ENCEPHALOPATHY; NONHUMAN; OXIDATION REDUCTION STATE; POINT MUTATION; PROTEIN CONFORMATION; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN STABILITY; THERMOSTABILITY; WILD TYPE; CHEMISTRY; CIRCULAR DICHROISM; COMPARATIVE STUDY; ELECTRON SPIN RESONANCE; GENE EXPRESSION REGULATION; GENETICS; HUMAN; METABOLISM; MITOCHONDRION; MUTATION; OXIDATION REDUCTION REACTION; PATHOLOGY; PURPURA;

BRAIN DISEASES, METABOLIC, INBORN; CIRCULAR DICHROISM; ELECTRON SPIN RESONANCE SPECTROSCOPY; GENE EXPRESSION REGULATION; HUMANS; IRON; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUTATION; NUCLEOCYTOPLASMIC TRANSPORT PROTEINS; OXIDATION-REDUCTION; PROTEIN CONFORMATION; PROTEIN STABILITY; PURPURA; SULFIDES; ZINC;

EID: 84911915073     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0107157     Document Type: Article

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