Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies

Mitochondrion

Volumn 12, Issue 2, 2012, Pages 357-362

  Arredondo, Juan J ^a   Gallardo, M Esther ^a,b   García Pavía, Pablo ^c,d   Domingo, Verónica ^a   Bretón, Begoña ^a   García Silva, M Teresa ^e   Sedano, M Jesús ^f   Martín, Miguel A ^b,e   Arenas, Joaquín ^b,e   Cervera, Margarita ^a   Garesse, Rafael ^a,b   Bornstein, Belén ^a,b,c  

^a AUTONOMOUS UNIVERSITY OF MADRID   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

^d Red Tematica de Investigacion Clinica Y Basica en Insuficiencia Cardiaca (REDINSCOR)   (Spain)

^e HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^f HOSPITAL UNIVERSITARIO DE BURGOS   (Spain)

Author keywords

M.1628C>T; M.1644G>A; Mitochondrial cardiomyopathies; Mitochondrial diseases; Mitochondrial DNA; Mitochondrial tRNA quantification

Indexed keywords

ALANINE; CITRATE SYNTHASE; CYSTEINE; CYTOCHROME C OXIDASE; GLYCINE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); THREONINE; UBIQUINOL CYTOCHROME C REDUCTASE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DETERMINATION; DOWN REGULATION; ENZYME DEFECT; GENE TARGETING; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL GENE; MITOCHONDRIAL RESPIRATION; MITOCHONDRIAL TRNA VALINE GENE; MUTATIONAL ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESPIRATORY CHAIN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; STEADY STATE; UPREGULATION;

ADOLESCENT; ADULT; CARDIOMYOPATHIES; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; HUMANS; MALE; MITOCHONDRIAL DISEASES; MUTATION; RNA; RNA, TRANSFER, VAL; SEQUENCE ANALYSIS, DNA;

EID: 84858006537     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2011.09.010     Document Type: Article

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