Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation

Molecular Genetics and Metabolism

Volumn 109, Issue 2, 2013, Pages 154-160

  Wen, Bing ^a   Li, Duoling ^a   Shan, Jingli ^a   Liu, Shuping ^a   Li, Wei ^a   Zhao, Yuying ^a   Lin, Pengfei ^a   Zheng, Jinfan ^a   Li, Danian ^a   Gong, Yaoqin ^b   Yan, Chuanzhu ^a,b  

^a SHANDONG UNIVERSITY   (China)

^b SHANDONG UNIVERSITY   (China)

Author keywords

CoQ10; ETFDH gene; Mitochondrion; Riboflavin

Indexed keywords

CITRATE SYNTHASE; ELECTRON TRANSFERRING FLAVOPROTEIN; MITOCHONDRIAL DNA; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR ALPHA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOFLAVIN; UBIDECARENONE;

ADOLESCENT; ADULT; ARTICLE; BIOSYNTHESIS; CHILD; DRUG RESPONSE; ETFDH GENE; FEMALE; GENE; GENE DOSAGE; GENE EXPRESSION; GENE MUTATION; GROUPS BY AGE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LIPID METABOLISM; MALE; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE MITOCHONDRION; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; UPREGULATION; WESTERN BLOTTING;

ADOLESCENT; ADULT; CHILD; DNA, MITOCHONDRIAL; ELECTRON-TRANSFERRING FLAVOPROTEINS; FEMALE; GENE EXPRESSION; HUMANS; IRON-SULFUR PROTEINS; LIPID METABOLISM; MALE; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL DYNAMICS; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUSCLE, SKELETAL; MUTATION, MISSENSE; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; RIBOFLAVIN; UBIQUINONE; YOUNG ADULT;

EID: 84878476812     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.04.007     Document Type: Article

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