Dysfunctional coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency

Human Molecular Genetics

Volumn 22, Issue 6, 2013, Pages 1233-1248

  García Corzo, Laura ^a,b   Luna Sánchez, Marta ^a,b   Doerrier, Carolina ^a,b   García, José A ^a,b   Guarás, Adela ^c   Acín Pérez, Rebeca ^c   Bullejos Peregrín, Javier ^a,b   López, Ana ^a,b   Escames, Germaine ^a,b   Enríquez, José A ^c   Acuña Castroviejo, Darío ^a,b   López, Luis C ^a,b  

^a Instituto de Biotecnología   (Spain)

^b UNIVERSITY OF GRANADA   (Spain)

^c CENTRO NACIONAL DE INVESTIGACIONES CARDIOVASCULARES CNIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; DEMETHOXYUBIQUINONE; MEMBRANE PROTEIN; UBIQUINONE; UBIQUINONE 7; UBIQUINONE 9; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; ASTROCYTOSIS; BIOENERGY; CELL VACUOLE; COENZYME; COENZYME Q10 DEFICIENCY; CONTROLLED STUDY; DEMYELINATION; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; HOMOZYGOTE; IMMUNOHISTOCHEMISTRY; MOUSE; MUTANT; NERVE CELL NECROSIS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RESPIRATION CONTROL; WESTERN BLOTTING;

ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATE; ANIMALS; BRAIN; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MITOCHONDRIAL ENCEPHALOMYOPATHIES; UBIQUINONE;

EID: 84874507385     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds530     Document Type: Article

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