Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.

Doimo, Mara; Trevisson, Eva; Airik, Rannar; Bergdoll, Marc; Santos-Ocaña, Carlos; Hildebrandt, Friedhelm; Navas, Placido; Pierrel, Fabien; Salviati, Leonardo

Doimo, Mara; Trevisson, Eva; Airik, Rannar; Bergdoll, Marc; Santos-Ocaña, Carlos; Hildebrandt, Friedhelm; Navas, Placido; Pierrel, Fabien; Salviati, Leonardo.

Affiliation

Doimo M; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy; IRP Città della Speranza, Padova, Italy.

Biochim Biophys Acta ; 1842(1): 1-6, 2014 Jan.

Article in En | MEDLINE | ID: mdl-24140869

Subject(s)

Aminobenzoates/pharmacology; Hydroxybenzoates/pharmacology; Mutation; Saccharomyces cerevisiae Proteins/genetics; Saccharomyces cerevisiae/drug effects; Ubiquinone/genetics; Vanillic Acid/pharmacology; Amino Acid Sequence; Ataxia/drug therapy; Ataxia/enzymology; Ataxia/genetics; Gene Expression; Humans; Mitochondria/drug effects; Mitochondria/enzymology; Mitochondria/genetics; Mitochondrial Diseases/drug therapy; Mitochondrial Diseases/enzymology; Mitochondrial Diseases/genetics; Models, Molecular; Molecular Sequence Data; Muscle Weakness/drug therapy; Muscle Weakness/enzymology; Muscle Weakness/genetics; Saccharomyces cerevisiae/enzymology; Saccharomyces cerevisiae/genetics; Saccharomyces cerevisiae Proteins/chemistry; Saccharomyces cerevisiae Proteins/metabolism; Sequence Alignment; Sequence Homology, Amino Acid; Ubiquinone/analogs & derivatives; Ubiquinone/chemistry; Ubiquinone/deficiency; Ubiquinone/metabolism

Key words

3,4 diHB; 3,4 dihydroxybenzoic acid; 4-hydroxybenzoate; 4HB; COQ6; COQ8-ADCK3; CYC1; CoQ; CoQ(10); Coenzyme Q; FAD; SRNS; Steroid-resistant nephrotic syndrome; VA; Vanillic acid; aarF domain containing kinase 3; coenzyme Q; coenzyme Q(10); cytochrome c1; flavin adenine dinucleotide; flavin-dependent monooxygenase; pHBH; para-hydroxybenzoate hydroxylase; steroid resistant nephrotic syndrome; vanillic acid

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Saccharomyces cerevisiae / Vanillic Acid / Ubiquinone / Saccharomyces cerevisiae Proteins / Aminobenzoates / Hydroxybenzoates / Mutation Limits: Humans Language: En Journal: Biochim Biophys Acta Year: 2014 Document type: Article Affiliation country: Italy Country of publication: Netherlands

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