Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

Mitochondrion

Volumn 21, Issue , 2015, Pages 1-10

  Chatfield, Kathryn C ^a   Coughlin, Curtis R ^b   Friederich, Marisa W ^b   Gallagher, Renata C ^b   Hesselberth, Jay R ^a   Lovell, Mark A ^a,c   Ofman, Rob ^d   Swanson, Michael A ^b   Thomas, Janet A ^b   Wanders, Ronald J A ^d   Wartchow, Eric P ^c   Van Hove, Johan L K ^b  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b University of Colorado Denver and Children s Hospital Colorado   (United States)

^c CHILDREN S HOSPITAL COLORADO   (United States)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

HSD10 disease; MHBD disease; MRPP2; RNA processing; RNase P

Indexed keywords

2 METHYL 3 HYDROXY BUTYRYL COA DEHYDROGENASE; BRAIN NATRIURETIC PEPTIDE; BUTYRYL COENZYME A DEHYDROGENASE; CITRATE SYNTHASE; CYTOCHROME C; CYTOCHROME C OXIDASE; LACTIC ACID; MITOCHONDRIAL DNA; RIBONUCLEASE P; SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG; 3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACETYL COENZYME A ACETYLTRANSFERASE; HSD17B10 PROTEIN, HUMAN;

ANEMIA; ARTICLE; ASTROCYTOSIS; AUTOPSY; BIOENERGY; BIOGENESIS; BRAIN DISEASE; CARDIOMEGALY; CASE REPORT; CELL VACUOLE; CENTRAL NERVOUS SYSTEM DISEASE; DEATH; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; ENZYME DEFICIENCY; GASTROENTERITIS; GENE MUTATION; GENE SEQUENCE; HEART; HEART FAILURE; HEMIZYGOSITY; HEPATOMEGALY; HUMAN; HUMAN TISSUE; HYPERAMMONEMIA; HYPERKALEMIA; HYPOCALCEMIA; HYPONATREMIA; INFANT; KETOACIDOSIS; LACTIC ACIDOSIS; LIVER; METABOLIC ACIDOSIS; MITOCHONDRIAL ENERGY TRANSFER; MITOCHONDRIAL RESPIRATION; MUSCLE TISSUE; NORTHERN BLOTTING; PATENT DUCTUS ARTERIOSUS; PERICARDIAL EFFUSION; PROGNOSIS; PROTEIN EXPRESSION; PROTEIN PROCESSING; PROTHROMBIN TIME; REAL TIME POLYMERASE CHAIN REACTION; RESPIRATORY CHAIN; RESUSCITATION; RNA ISOLATION; RNA PROCESSING; STOMACH TUBE; TACHYCARDIA; THROMBOCYTOPENIA; TRANSMISSION ELECTRON MICROSCOPY; UPREGULATION; WESTERN BLOTTING; CELL RESPIRATION; DEFICIENCY; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; ELECTRON TRANSPORT; ENERGY METABOLISM; GENE EXPRESSION; GENETIC TRANSCRIPTION; GENETICS; HEART MUSCLE; MALE; METABOLISM; MITOCHONDRION; MUSCLE; NEWBORN; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY;

3-HYDROXYACYL COA DEHYDROGENASES; ACETYL-COA C-ACETYLTRANSFERASE; CELL RESPIRATION; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; ENERGY METABOLISM; GENE EXPRESSION; HUMANS; INFANT; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; LIVER; MALE; MITOCHONDRIA; MUSCLES; MYOCARDIUM; RNA PROCESSING, POST-TRANSCRIPTIONAL; TRANSCRIPTION, GENETIC;

EID: 84921522088     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2014.12.005     Document Type: Article

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