Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

Human Molecular Genetics

Volumn 16, Issue 9, 2007, Pages 1091-1097

  López Martín, José M ^a   Salviati, Leonardo ^b   Trevisson, Eva ^b   Montini, Giovanni ^b   DiMauro, Salvatore ^c   Quinzii, Catarina ^c   Hirano, Michio ^c   Rodriguez Hernandez, Angeles ^a   Cordero, Mario D ^a   Sánchez Alcázar, José A ^a   Santos Ocaña, Carlos ^a   Navas, Plácido ^a  

^a UNIVERSIDAD PABLO DE OLAVIDE   (Spain)

^b UNIVERSITY OF PADOVA   (Italy)

^c Columbia University College of Physicians and Surgeons ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COENZYME Q 2; COENZYME Q 6; MITOCHONDRIAL DNA; POLYPRENYL P HYDROXYBENZOATE TRANSFERASE; QUINONE DERIVATIVE; TRANSFERASE; UBIDECARENONE; UBIQUINONE; UNCLASSIFIED DRUG;

ARTICLE; BIOENERGY; BRAIN DISEASE; CONTROLLED STUDY; ENZYME ACTIVITY; GENETIC CODE; GROWTH RATE; HELA CELL; HUMAN; HUMAN CELL; KIDNEY DISEASE; MISSENSE MUTATION; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PYRIMIDINE SYNTHESIS; RESPIRATORY CHAIN; YEAST;

ALKYL AND ARYL TRANSFERASES; AMINO ACID SEQUENCE; BASE SEQUENCE; CELL DIVISION; CELLS, CULTURED; COENZYMES; ENERGY METABOLISM; ENZYME ACTIVATION; FIBROBLASTS; GENETIC COMPLEMENTATION TEST; HELA CELLS; HUMANS; IMMUNOBLOTTING; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PYRIMIDINES; SACCHAROMYCES CEREVISIAE; SEQUENCE ALIGNMENT; UBIQUINONE; URIDINE;

EID: 34447295112     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm058     Document Type: Article

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